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Entry
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- #194050 - WILLIAMS-BEUREN SYNDROME; WBS
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- OMIM
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<p>
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<span class="h4">#194050</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="/clinicalSynopsis/194050"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#history">History</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=WILLIAMS-BEUREN SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://decipher.sanger.ac.uk/syndrome/3" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=145&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1249/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/7501" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/williams-syndrome" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=194050[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=904" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/5b18b1cf-3c52-4fb0-92a2-f4d2dfead0f9/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:1928" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/194050" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA002115/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:1928" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:194050" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 63247009<br />
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<strong>ICD10CM:</strong> Q93.82<br />
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<strong>ORPHA:</strong> 904<br />
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<strong>DO:</strong> 1928<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
|
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<span class="text-danger"><strong>#</strong></span>
|
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194050
|
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
|
<span class="mim-font">
|
|
|
|
WILLIAMS-BEUREN SYNDROME; WBS
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
CHROMOSOME 7q11.23 DELETION SYNDROME, 1.5- TO 1.8-MB<br />
|
|
WILLIAMS SYNDROME; WMS; WS
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/7/310?start=-3&limit=10&highlight=310">7q11.23</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr7:72700001-77900000&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">7:72,700,001-77,900,000</a> </span>
|
|
</em>
|
|
</strong>
|
|
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/7/310?start=-3&limit=10&highlight=310">
|
|
7q11.23
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Williams-Beuren syndrome
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/194050"> 194050 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved">4</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/194050" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Weight </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Abnormal weight gain <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/161833006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">161833006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R63.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R63.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0332544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0332544</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Intrauterine growth retardation (IUGR) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22033007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22033007</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/764.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">764.90</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/764.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">764.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015934&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015934</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001511" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001511</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001511" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001511</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Medial eyebrow flare <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844562&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844562</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010747" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010747</a>]</span><br /> -
|
|
Flat midface <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1858085&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858085</a>, <a href="https://bioportal.bioontology.org/search?q=C1853242&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853242</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011800" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011800</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000272" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000272</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011800" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011800</a>]</span><br /> -
|
|
Periorbital fullness (puffy eyes) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860298&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860298</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000629</a>]</span><br /> -
|
|
Epicanthal folds <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74824007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74824007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0678230&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0678230</a>, <a href="https://bioportal.bioontology.org/search?q=C0229249&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0229249</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000286</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000286</a>]</span><br /> -
|
|
Long philtrum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865014&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865014</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000343" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000343</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000343" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000343</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6e8169f9668cf95ffe7aad93a28f672b" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Philtrum,Long-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6e8169f9668cf95ffe7aad93a28f672b" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Sensorineural hearing loss, mild to moderate <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860299&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860299</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60700002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60700002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.1</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span><br /> -
|
|
Hyperacusis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25289003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25289003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/194399009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">194399009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H93.23" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H93.23</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/388.42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">388.42</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034880&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034880</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010780" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010780</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010780" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010780</a>]</span><br /> -
|
|
Phonophobia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/313387002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">313387002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0751466&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0751466</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002183" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002183</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002183" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002183</a>]</span><br /> -
|
|
Abnormal brain auditory evoked responses (BAER) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860300&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860300</a>]</span><br /> -
|
|
Decreased or absent ipsilateral acoustic reflex response to maximum stimulation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860301&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860301</a>]</span><br />
|
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</span>
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</div>
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|
</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Stellate pattern of iris <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860302&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860302</a>]</span><br /> -
|
|
Strabismus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22066006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22066006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038379</a>, <a href="https://bioportal.bioontology.org/search?q=C2020541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2020541</a>, <a href="https://bioportal.bioontology.org/search?q=C1423541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1423541</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span><br /> -
|
|
Altered visual acuity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277708&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277708</a>]</span><br />
|
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</span>
|
|
</div>
|
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nose </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Depressed nasal bridge <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836542&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836542</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005280</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005280</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=7043769fd21a78a413fd758918cdda17" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Nasal_Bridge,Depressed-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=7043769fd21a78a413fd758918cdda17" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Anteverted nares <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/708670007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">708670007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840077&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840077</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000463" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000463</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000463" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000463</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=656ef0aca7742d97c5769f51f0dd56de" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Nares,Anteverted-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=656ef0aca7742d97c5769f51f0dd56de" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
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</span>
|
|
</div>
|
|
</div>
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Thick lips <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836543&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836543</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012471" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012471</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012471" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012471</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
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|
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<div>
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|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Teeth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypodontia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64969001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64969001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K00.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K00.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020608&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020608</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000668" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000668</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000668" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000668</a>]</span><br /> -
|
|
Microdontia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32337007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32337007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K00.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K00.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3891292&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3891292</a>, <a href="https://bioportal.bioontology.org/search?q=C0240340&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240340</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000691" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000691</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000691" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000691</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=e20d406d085f08e5a5f007032d800b18" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Microdontia-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=e20d406d085f08e5a5f007032d800b18" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
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|
|
</div>
|
|
|
|
|
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|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Supravalvular aortic stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/268185002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">268185002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q25.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q25.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003499&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003499</a>, <a href="https://bioportal.bioontology.org/search?q=C1414382&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1414382</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004381" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004381</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004381" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004381</a>]</span><br /> -
|
|
Valvular aortic stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60573004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60573004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003507&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003507</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001650</a>]</span><br /> -
|
|
Bicuspid aortic valve <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72352009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72352009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q23.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q23.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5193127&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5193127</a>, <a href="https://bioportal.bioontology.org/search?q=C0149630&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0149630</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001647" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001647</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001647" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001647</a>]</span><br /> -
|
|
Mitral valve prolapse <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409712001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409712001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8074002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8074002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026267&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026267</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001634" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001634</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001634" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001634</a>]</span><br /> -
|
|
Mitral regurgitation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48724000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48724000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026266&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026266</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001653" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001653</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001653" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001653</a>]</span><br /> -
|
|
Coronary artery stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/233970002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">233970002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242231&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242231</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005145" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005145</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005145" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005145</a>]</span><br /> -
|
|
Pulmonary valve stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56786000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56786000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034089&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034089</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001642" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001642</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001642" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001642</a>]</span><br /> -
|
|
Atrial septal defect <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253366007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253366007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405752007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405752007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70142008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70142008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018817</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001631" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001631</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001631" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001631</a>]</span><br /> -
|
|
Ventricular septal defect <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30288003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30288003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253549006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253549006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/768552007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">768552007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/745.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018818&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018818</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001629</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001629</a>]</span><br />
|
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</span>
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</div>
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</div>
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<div>
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|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Peripheral pulmonary artery stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253631001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253631001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0345030&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0345030</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004969" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004969</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004969" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004969</a>]</span><br /> -
|
|
Systemic hypertension <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38341003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38341003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/401-405.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">401-405.99</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/997.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">997.91</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020538&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020538</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000822</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
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<div>
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|
<div>
|
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<span class="h5 mim-font">
|
|
<em> Larynx </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Vocal cord paralysis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302912005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302912005</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/478.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">478.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042928&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042928</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001605" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001605</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001605" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001605</a>]</span><br />
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</span>
|
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</div>
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</div>
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</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CHEST </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ribs Sternum Clavicles & Scapulae </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pectus excavatum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/391987005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">391987005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/391982004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">391982004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016842&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016842</a>, <a href="https://bioportal.bioontology.org/search?q=C2051831&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2051831</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000767" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000767</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000767" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000767</a>]</span><br />
|
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|
</span>
|
|
</div>
|
|
</div>
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</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Features </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Inguinal hernia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/396232000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">396232000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K40.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K40.90</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/550" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">550</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019294&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019294</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000023</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000023</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Chronic constipation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/236069009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">236069009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K59.09" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K59.09</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0401149&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0401149</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012450" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012450</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012450" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012450</a>]</span><br /> -
|
|
Diverticulosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63532004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63532004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/562" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">562</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1510475&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1510475</a>]</span><br /> -
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Colic <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/9991008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">9991008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R10.83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R10.83</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0232488&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0232488</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011848" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011848</a>]</span><br /> -
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Difficulty feeding <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/78164000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">78164000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R63.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R63.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0232466&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0232466</a>, <a href="https://bioportal.bioontology.org/search?q=C2183415&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2183415</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011968" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011968</a>]</span><br /> -
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Gastroesophageal reflux <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/235595009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">235595009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/722884003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">722884003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/698065002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">698065002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K21" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K21</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K21.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K21.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/530.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">530.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3813607&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3813607</a>, <a href="https://bioportal.bioontology.org/search?q=C4317146&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4317146</a>, <a href="https://bioportal.bioontology.org/search?q=C0017168&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017168</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002020" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002020</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002020" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002020</a>]</span><br /> -
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Textured-food intolerance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277707&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277707</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> GENITOURINARY </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Kidneys </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Small kidneys <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/359563005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">359563005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/236448000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">236448000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32659003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32659003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N27.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N27.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q60.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q60.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N27" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N27</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/589.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">589.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/589" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">589</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266295&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266295</a>, <a href="https://bioportal.bioontology.org/search?q=C0156247&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0156247</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000089" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000089</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000089" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000089</a>]</span><br /> -
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Solitary kidney <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q60.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q60.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266294&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266294</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000122" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000122</a>]</span><br /> -
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Pelvic kidney <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56108007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56108007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221209&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221209</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000125" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000125</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000125" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000125</a>]</span><br /> -
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Nephrocalcinosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48638002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48638002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027709&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027709</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000121" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000121</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000121" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000121</a>]</span><br /> -
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|
Renal insufficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/723188008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">723188008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42399005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42399005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/236423003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">236423003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N19" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N19</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/586" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">586</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1565489&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1565489</a>, <a href="https://bioportal.bioontology.org/search?q=C0035078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035078</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</a>]</span><br /> -
|
|
Renal artery stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/282664001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">282664001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302233006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302233006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035067&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035067</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001920" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001920</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001920" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001920</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<em> Ureters </em>
|
|
</span>
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</div>
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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|
- Vesicoureteral reflux <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197811007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197811007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.70</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/593.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">593.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042580&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042580</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000076" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000076</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000076" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000076</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<em> Bladder </em>
|
|
</span>
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</div>
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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|
- Bladder diverticula <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197866008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197866008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N32.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N32.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/596.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">596.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0156273&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0156273</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000015</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000015</a>]</span><br /> -
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|
Urethral stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/236647003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">236647003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/76618002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">76618002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N35.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N35.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N35.919" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N35.919</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N35" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N35</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/598.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">598.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/598" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">598</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0041974&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0041974</a>, <a href="https://bioportal.bioontology.org/search?q=C4551691&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551691</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012227" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012227</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0008661" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008661</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008661" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008661</a>]</span><br /> -
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Recurrent urinary tract infections <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197927001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197927001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/473116008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">473116008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0262655&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0262655</a>, <a href="https://bioportal.bioontology.org/search?q=C3532611&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3532611</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000010" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000010</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000010" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000010</a>]</span><br /> -
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Voiding frequency/urgency <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277706</a>]</span><br /> -
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Enuresis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8009008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8009008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42112009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42112009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N39.44" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N39.44</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R32" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R32</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F98.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F98.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/307.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">307.6</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/788.36" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">788.36</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0403670&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0403670</a>, <a href="https://bioportal.bioontology.org/search?q=C0014394&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014394</a>, <a href="https://bioportal.bioontology.org/search?q=C0270327&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0270327</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010677</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000805" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000805</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000805" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000805</a>]</span><br /> -
|
|
Delayed toilet training <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248537002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248537002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424873&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424873</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> SKELETAL </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Joint contractures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7890003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7890003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M24.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M24.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/718.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.4</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/718.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009918&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009918</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034392" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034392</a>]</span><br /> -
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Joint laxity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298203008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298203008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/788453008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">788453008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862377</a>, <a href="https://bioportal.bioontology.org/search?q=C0086437&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086437</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001382</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001382</a>]</span><br /> -
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Osteopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/312894000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">312894000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029453&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029453</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000938</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000938</a>]</span><br /> -
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Osteoporosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64859006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64859006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Z82.62" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Z82.62</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M81.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M81.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/733.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">733.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/V17.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">V17.81</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/733.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">733.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2911643&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2911643</a>, <a href="https://bioportal.bioontology.org/search?q=C0029456&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029456</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000939" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000939</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000939" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000939</a>]</span><br />
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</span>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
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|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Kyphoscoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405771009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405771009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405772002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405772002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405773007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405773007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0600033&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0600033</a>, <a href="https://bioportal.bioontology.org/search?q=C0575158&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0575158</a>, <a href="https://bioportal.bioontology.org/search?q=C0345392&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0345392</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002751</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0008453" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008453</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002751</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
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</div>
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|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Joint limitation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842225&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842225</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Feet </em>
|
|
</span>
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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|
|
- Hallux valgus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/122480009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">122480009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/65358001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">65358001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/53842005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">53842005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M20.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M20.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M20.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M20.10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/735.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">735.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265656&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265656</a>, <a href="https://bioportal.bioontology.org/search?q=C0018536&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018536</a>, <a href="https://bioportal.bioontology.org/search?q=C0158458&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158458</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001822</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001822</a>]</span><br />
|
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</span>
|
|
</div>
|
|
</div>
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</div>
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</div>
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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|
|
- Decreased skin stiffness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4231322&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4231322</a>]</span><br /> -
|
|
Easier stretching <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4231321&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4231321</a>]</span><br /> -
|
|
Soft skin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844592&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844592</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000977" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000977</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000977" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000977</a>]</span><br /> -
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Increased wrinkles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4231320&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4231320</a>]</span><br /> -
|
|
Abnormal scarring <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0683371&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0683371</a>]</span><br /> -
|
|
Less pressure required to lift skin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4231319&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4231319</a>]</span><br /> -
|
|
Longer retraction time after stretching <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4231318&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4231318</a>]</span><br /> -
|
|
Decreased viscoelasticity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4231317&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4231317</a>]</span><br /> -
|
|
Premature aging, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277710&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277710</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/88587007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">88587007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399959003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399959003</a>]</span><br />
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</span>
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</div>
|
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nails </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypoplastic nails <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11375002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11375002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0263523&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0263523</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001792" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001792</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001792" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001792</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hair </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Premature graying <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/387833009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">387833009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L67.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L67.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0263498&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0263498</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002216" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002216</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002216" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002216</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
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|
|
|
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|
|
|
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|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Mental retardation (average IQ 56) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860291&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860291</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
|
|
Relative sparing of language <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860292&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860292</a>]</span><br /> -
|
|
Poor visual-motor integration (Range 41-80) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860293&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860293</a>]</span><br /> -
|
|
Poor visual-spatial construction <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749815&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749815</a>]</span><br /> -
|
|
Hypersensitivity to sound <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860294&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860294</a>]</span><br /> -
|
|
Hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br /> -
|
|
Hyperreflexia (particularly in lower extremities, more prevalent in adolescents and adults) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277704&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277704</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86854008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86854008</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001347</a>]</span><br /> -
|
|
Poor balance <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249985001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249985001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234964&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234964</a>]</span><br /> -
|
|
Poor coordination <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0563243&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0563243</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002370" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002370</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002370" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002370</a>]</span><br /> -
|
|
Type I Chiari malformation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253185002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253185002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0750929&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0750929</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007099" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007099</a>]</span><br />
|
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|
|
</span>
|
|
</div>
|
|
</div>
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Behavioral Psychiatric Manifestations </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Attention deficit disorder <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7461003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7461003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35253001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35253001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/406506008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">406506008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F90.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F90.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F90</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F90.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F90.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/314.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">314.01</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/314" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">314</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/314.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">314.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/314.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">314.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0339002&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0339002</a>, <a href="https://bioportal.bioontology.org/search?q=C0041671&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0041671</a>, <a href="https://bioportal.bioontology.org/search?q=C1263846&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1263846</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000752" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000752</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0007018" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007018</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007018" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007018</a>]</span><br /> -
|
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Friendly personality <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749816&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749816</a>]</span><br /> -
|
|
Gregarious <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/286722006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">286722006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0564536&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0564536</a>]</span><br /> -
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Cocktail party personality <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860295&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860295</a>]</span><br /> -
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Strong attraction to music <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860296&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860296</a>]</span><br /> -
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Anxiety <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48694002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48694002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197480006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197480006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F41.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F41.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003469&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003469</a>, <a href="https://bioportal.bioontology.org/search?q=C0003467&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003467</a>, <a href="https://bioportal.bioontology.org/search?q=C0860603&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0860603</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000739" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000739</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000739" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000739</a>]</span><br /> -
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Phobias <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/386808001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">386808001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/386810004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">386810004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F40.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F40.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/300.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">300.20</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/300.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">300.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349231&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349231</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:5200232" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:5200232</a>]</span><br /> -
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Obsessive-compulsive traits <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834433&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834433</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008770" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008770</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008770" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008770</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> VOICE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Harsh, brassy, or hoarse voice <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860305&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860305</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> ENDOCRINE FEATURES </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Hypercalcemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/166702002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">166702002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/66931009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">66931009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E83.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E83.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/275.42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">275.42</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020437&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020437</a>, <a href="https://bioportal.bioontology.org/search?q=C5700155&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5700155</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003072" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003072</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003072" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003072</a>]</span><br /> -
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Glucose intolerance <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267426009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267426009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/9414007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">9414007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R73.03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R73.03</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0271650&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0271650</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001952" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001952</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001952" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001952</a>]</span><br /> -
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Diabetes mellitus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/73211009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">73211009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E08-E13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E08-E13</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">250</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011849&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011849</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000819" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000819</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000819" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000819</a>]</span><br /> -
|
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Early-onset puberty (menarche about 2 years early) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277703&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277703</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/400179000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">400179000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E30.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E30.1</a>]</span><br /> -
|
|
Hypothyroidism, subclinical <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54823002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54823002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0271790&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0271790</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008223" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008223</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> LABORATORY ABNORMALITIES </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
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|
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- Hemizygous deletion at 7q11.23 <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860304&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860304</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Incidence 1 in 8,000 live births<br /> -
|
|
Main aspects of phenotype attributed to defects in GTF2IRD1 (<a href="/entry/604318">604318</a>) and GTF2I (<a href="/entry/601679">601679</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> MOLECULAR BASIS </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Contiguous gene syndrome resulting from hemizygous deletion 1.5 - 1.8 Mb on 7q11.2<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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</div>
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<div>
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<p>A number sign (#) is used with this entry because Williams-Beuren syndrome (WBS) is a contiguous gene deletion syndrome resulting from the hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23.</p><p>For a discussion of the genes deleted in this syndrome and possible genotype/phenotype correlations, see below.</p>
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<p>Williams-Beuren syndrome (WBS) is a multisystem disorder caused by hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23, which contains approximately 28 genes. <a href="#113" class="mim-tip-reference" title="Pober, B. R. <strong>Williams-Beuren syndrome.</strong> New Eng. J. Med. 362: 239-252, 2010. Note: Erratum: New Eng. J. Med. 362: 2142 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20089974/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20089974</a>] [<a href="https://doi.org/10.1056/NEJMra0903074" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20089974">Pober (2010)</a> reviewed the clinical features of Williams-Beuren syndrome as well as the genomic and genetic basis and clinical management. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20089974" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>See also the distal chromosome 7q11.23 deletion syndrome (<a href="/entry/613729">613729</a>), which occurs between the WBS region and the MAGI2 gene (<a href="/entry/606382">606382</a>).</p>
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<p><a href="#155" class="mim-tip-reference" title="Williams, J. C., Barratt-Boyes, B. G., Lowe, J. B. <strong>Supravalvular aortic stenosis.</strong> Circulation 24: 1311-1318, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14007182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14007182</a>] [<a href="https://doi.org/10.1161/01.cir.24.6.1311" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14007182">Williams et al. (1961)</a> described a syndrome characterized by supravalvular aortic stenosis (SVAS), mental retardation, and distinctive facial features. <a href="#3" class="mim-tip-reference" title="Beuren, A. J., Apitz, J., Harmjanz, D. <strong>Supravalvular aortic stenosis in association with mental retardation and certain facial appearance.</strong> Circulation 26: 1235-1240, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13967885/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13967885</a>] [<a href="https://doi.org/10.1161/01.cir.26.6.1235" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13967885">Beuren et al. (1962)</a> described a similar syndrome with the additional features of dental anomalies and peripheral pulmonary artery stenosis. Two features of the syndrome had been described as distinct entities: supravalvular aortic stenosis (<a href="#130" class="mim-tip-reference" title="Sissman, N. J., Neill, C. A., Spencer, F. C., Taussig, H. B. <strong>Congenital aortic stenosis.</strong> Circulation 19: 458-468, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13629808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13629808</a>] [<a href="https://doi.org/10.1161/01.cir.19.3.458" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13629808">Sissman et al., 1959</a>) and infantile hypercalcemia (<a href="#33" class="mim-tip-reference" title="Fanconi, G., Girardet, P., Schlesinger, B., Butler, N., Black, J. A. <strong>Chronische Hypercalcaemie, kombiniert mit Osteosklerose, Hyperazotaemie, Minderwuchs und kongenitalen Missbildungen.</strong> Helv. Paediat. Acta 7: 314-334, 1952.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12980492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12980492</a>]" pmid="12980492">Fanconi et al., 1952</a>). <a href="#6" class="mim-tip-reference" title="Black, J. A., Bonham-Carter, R. E. <strong>Association between aortic stenosis and facies of severe infantile hypercalcemia.</strong> Lancet 282: 745-749, 1963. Note: Originally Volume 2."None>Black and Bonham-Carter (1963)</a> pointed out the similarity of the facial features described in these reports to those described by <a href="#155" class="mim-tip-reference" title="Williams, J. C., Barratt-Boyes, B. G., Lowe, J. B. <strong>Supravalvular aortic stenosis.</strong> Circulation 24: 1311-1318, 1961.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14007182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14007182</a>] [<a href="https://doi.org/10.1161/01.cir.24.6.1311" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14007182">Williams et al. (1961)</a> and <a href="#3" class="mim-tip-reference" title="Beuren, A. J., Apitz, J., Harmjanz, D. <strong>Supravalvular aortic stenosis in association with mental retardation and certain facial appearance.</strong> Circulation 26: 1235-1240, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13967885/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13967885</a>] [<a href="https://doi.org/10.1161/01.cir.26.6.1235" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13967885">Beuren et al. (1962)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13629808+14007182+12980492+13967885" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#50" class="mim-tip-reference" title="Grimm, T., Wesselhoeft, H. <strong>Zur Genetik des Williams-Beuren-Syndroms und der isolierten Form der supravalvulaeren Aortenstenose (Untersuchungen von 128 Familien).</strong> Z. Kardiol. 69: 168-172, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7456592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7456592</a>]" pmid="7456592">Grimm and Wesselhoeft (1980)</a> suggested that full-blown Williams syndrome includes supravalvular aortic stenosis, multiple peripheral pulmonary arterial stenoses, 'elfin face,' mental and statural deficiency, characteristic dental malformation, and infantile hypercalcemia. In a series of cases ascertained through supravalvular aortic stenosis, they found patients with mental retardation without 'elfin facies' and patients with 'elfin facies' who were mentally normal. <a href="#4" class="mim-tip-reference" title="Beuren, A. J. <strong>Supravalvular aortic stenosis: a complex syndrome with and without mental retardation.</strong> Birth Defects Orig. Art. Ser. VIII(5): 45-56, 1972."None>Beuren (1972)</a> presented compelling evidence that supravalvular aortic stenosis and idiopathic infantile hypercalcemia are part of the same disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7456592" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Among 19 patients with the Williams syndrome not ascertained through a cardiologic hospital, <a href="#60" class="mim-tip-reference" title="Jones, K. L., Smith, D. W. <strong>The Williams elfin facies syndrome: a new perspective.</strong> J. Pediat. 86: 718-723, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1133652/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1133652</a>] [<a href="https://doi.org/10.1016/s0022-3476(75)80356-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1133652">Jones and Smith (1975)</a> found 6 without supravalvular aortic stenosis, peripheral pulmonary stenosis, or hypoplastic aorta. <a href="#99" class="mim-tip-reference" title="Oppenheimer, E. H. <strong>Partial atresia of the main branches of the pulmonary artery occurring in infancy and accompanied by calcification of the pulmonary artery and aorta.</strong> Bull. Johns Hopkins Hosp. 63: 261-275, 1938."None>Oppenheimer (1938)</a> reported a 17-month-old child with pulmonary artery stenosis and calcification of the aorta and pulmonary artery; this may have been an early case. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1133652" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#154" class="mim-tip-reference" title="White, R. A., Preus, M., Watters, G. V., Fraser, F. C. <strong>Familial occurrence of the Williams syndrome.</strong> J. Pediat. 91: 614-616, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/908984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">908984</a>] [<a href="https://doi.org/10.1016/s0022-3476(77)80516-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="908984">White et al. (1977)</a> described second cousins with the characteristic facies and mental retardation but no documented hypercalcemia and no cardiovascular abnormality. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=908984" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#117" class="mim-tip-reference" title="Preus, M. <strong>The Williams syndrome: objective definition and diagnosis.</strong> Clin. Genet. 25: 422-428, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6723102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6723102</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1984.tb02011.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6723102">Preus (1984)</a>, in 2 companion articles, used numerical taxonomy (<a href="#115" class="mim-tip-reference" title="Preus, M. <strong>The numerical versus intuitive approach to syndrome nosology.</strong> Birth Defects Orig. Art. Ser. XV(5): 93-104, 1980."None>Preus, 1980</a>) to sharpen the definition of the Williams syndrome and used the diagnostic index so derived in the differential diagnosis of the Williams and Noonan syndromes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6723102" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Burn, J. <strong>Williams syndrome.</strong> J. Med. Genet. 23: 389-395, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3537294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3537294</a>] [<a href="https://doi.org/10.1136/jmg.23.5.389" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3537294">Burn (1986)</a> reviewed the features of Williams syndrome and suggested that the term 'elfin facies' be dropped. He described the characteristic facial features as broad forehead, medial eyebrow flare, periorbital fullness, strabismus, stellate iris pattern, flat nasal bridge, malar flattening, full cheeks and lips, a long smooth philtrum, a pointed chin, and a wide mouth. The face becomes more coarse with age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3537294" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#114" class="mim-tip-reference" title="Preus, M. <strong>Iris pattern in patients with the Williams syndrome. (Letter)</strong> J. Pediat. 87: 840, 1975."None>Preus (1975)</a> pointed out that the iris pattern, described by her as 'lacey' and by others as 'stellate,' can be a useful diagnostic clue in infants. <a href="#55" class="mim-tip-reference" title="Holmstrom, G., Almond, G., Temple, K., Taylor, D., Baraitser, M. <strong>The iris in Williams syndrome.</strong> Arch. Dis. Child. 65: 987-989, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2221973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2221973</a>] [<a href="https://doi.org/10.1136/adc.65.9.987" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2221973">Holmstrom et al. (1990)</a> had 3 ophthalmologists and 4 geneticists examine eye photographs from 43 children with Williams syndrome and 124 control subjects. A stellate pattern was noted in the irides of 51% of the Williams syndrome patients and in 12% of the control subjects. The pattern was more difficult to detect or was absent in heavily pigmented irides. <a href="#56" class="mim-tip-reference" title="Hotta, Y., Kishishita, H., Wakita, M., Inagaki, Y., Momose, T., Kato, K. <strong>Ocular findings of Williams' syndrome.</strong> Acta Paediat. Scand. 79: 869-870, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2239289/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2239289</a>] [<a href="https://doi.org/10.1111/j.1651-2227.1990.tb11571.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2239289">Hotta et al. (1990)</a> reported on the iris pattern in 3 cases. <a href="#156" class="mim-tip-reference" title="Winter, M., Pankau, R., Amm, M., Gosch, A., Wessel, A. <strong>The spectrum of ocular features in the Williams-Beuren syndrome.</strong> Clin. Genet. 49: 28-31, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8721568/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8721568</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1996.tb04320.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8721568">Winter et al. (1996)</a> assessed the frequency and severity of ophthalmologic features in 152 patients with Williams-Beuren syndrome. Eighty-two (54%) had strabismus, while 149 had esotropia. Blue irides were present in 117 (77%), green irides in 10 (7%), and brown irides in 25 (16%). A typical stellate iris pattern of the anterior stroma was found in 112 (74%). Whitish anomalies were also detected in brown irides. Retinal vascular tortuosity was found in 22% of patients with funduscopy. Two 9-year-old patients and a 46-year-old patient had initial cataract. No ocular manifestations of hypercalcemia were noted. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2221973+8721568+2239289" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#106" class="mim-tip-reference" title="Pankau, R., Partsch, C.-J., Gosch, A., Oppermann, H. C., Wessel, A. <strong>Statural growth in Williams-Beuren syndrome.</strong> Europ. J. Pediat. 151: 751-755, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1425797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1425797</a>] [<a href="https://doi.org/10.1007/BF01959084" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1425797">Pankau et al. (1992)</a> analyzed the statural growth in 165 patients (75 girls and 90 boys). Intrauterine growth retardation was present in 35% of the girls and 22% of the boys. Poor growth was noted during the first 2 years of life. Until age 9 years in girls and 11 years in boys, mean growth followed the 3rd percentile. A pubertal growth spurt with normal growth rate was seen at age 10 years in girls and 13 years in boys, i.e., 1 to 2 years earlier than normal. Menarche also occurred earlier than normal. Mean adult height was 153.9 +/- 6.9 cm in 17 girls and 168.2 +/- 6.9 cm in 27 boys, approximately corresponding to the 3rd percentile in both sexes. The mean deficit of adult height compared to target height was 10.2 cm in girls and 9.1 cm in boys. Skeletal development progressed at an approximately normal rate in both sexes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1425797" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#105" class="mim-tip-reference" title="Pankau, R., Gosch, A., Wessel, A. <strong>Radioulnar synostosis in Williams-Beuren syndrome: a component manifestation. (Letter)</strong> Am. J. Med. Genet. 45: 783 only, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8456863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8456863</a>] [<a href="https://doi.org/10.1002/ajmg.1320450625" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8456863">Pankau et al. (1993)</a> conducted a retrospective study of 119 patients with Williams syndrome. Results showed limitation of supination at the elbow with radioulnar synostosis in 9 patients. One patient had bilateral radioulnar synostosis. <a href="#105" class="mim-tip-reference" title="Pankau, R., Gosch, A., Wessel, A. <strong>Radioulnar synostosis in Williams-Beuren syndrome: a component manifestation. (Letter)</strong> Am. J. Med. Genet. 45: 783 only, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8456863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8456863</a>] [<a href="https://doi.org/10.1002/ajmg.1320450625" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8456863">Pankau et al. (1993)</a> suggested that radioulnar synostosis should be considered a common manifestation of the syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8456863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Patients with Williams syndrome are often described as having a harsh, brassy, or hoarse voice (<a href="#47" class="mim-tip-reference" title="Gosch, A., Stading, G., Pankau, R. <strong>Linguistic abilities in children with Williams-Beuren syndrome.</strong> Am. J. Med. Genet. 52: 291-296, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7528971/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7528971</a>] [<a href="https://doi.org/10.1002/ajmg.1320520308" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7528971">Gosch et al., 1994</a>). <a href="#133" class="mim-tip-reference" title="Stewart, F. J., Dalzell, M., McReid, M., Cinnamond, M. J. <strong>Bilateral vocal cord paralysis in Williams syndrome.</strong> Clin. Genet. 44: 164-165, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8275577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8275577</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1993.tb03870.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8275577">Stewart et al. (1993)</a> described a patient with bilateral vocal cord paralysis, developing at the age of 9 years, which required tracheostomy. <a href="#136" class="mim-tip-reference" title="Takamatsu, I. <strong>Bilateral vocal cord paralysis in children.</strong> Nippon Jibiinkoka Gakkai Kaiho. 99: 91-102, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8822258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8822258</a>] [<a href="https://doi.org/10.3950/jibiinkoka.99.91" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8822258">Takamatsu (1996)</a> studied 18 cases of bilateral vocal cord paralysis in children, including 1 patient with WS. <a href="#146" class="mim-tip-reference" title="Vaux, K. K., Wojtczak, H., Benirschke, K., Lyons Jones, K. <strong>Vocal cord abnormalities in Williams syndrome: a further manifestation of elastin deficiency.</strong> Am. J. Med. Genet. 119A: 302-304, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12784297/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12784297</a>] [<a href="https://doi.org/10.1002/ajmg.a.20169" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12784297">Vaux et al. (2003)</a> described 2 WS patients who had bilateral vocal cord abnormalities (1 of whom required tracheostomy because of bilateral vocal cord paralysis), bringing to 4 the number of children with WS in whom such defects had been documented. They suggested that vocal cord abnormalities may be a far more common feature of WS than previously suspected, and that mild vocal cord dysfunction caused by abnormal vocal cord elastin may be the cause of the hoarse voice in this condition. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8275577+12784297+8822258+7528971" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#97" class="mim-tip-reference" title="Narin, N., Ozyurek, R., Bakiler, A. R., Parlar, A., Arcasoy, M., Koprubasi, F. <strong>Williams syndrome and subaortic stenosis. (Letter)</strong> Clin. Genet. 44: 223, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8261654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8261654</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1993.tb03885.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8261654">Narin et al. (1993)</a> reported an 8-year-old boy with Williams syndrome who had subvalvular aortic stenosis--seemingly the first report of subvalvular location of obstruction in this disorder. <a href="#157" class="mim-tip-reference" title="Wollack, J. B., Kaifer, M., LaMonte, M. P., Rothman, M. <strong>Stroke in Williams syndrome.</strong> Stroke 27: 143-146, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8553392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8553392</a>] [<a href="https://doi.org/10.1161/01.str.27.1.143" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8553392">Wollack et al. (1996)</a> described a 19-year-old girl with Williams syndrome who developed an ischemic stroke of the internal capsule and putamen but who was not found to have stenotic lesion on angiography. They reviewed 5 other cases of stroke in Williams syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8261654+8553392" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#22" class="mim-tip-reference" title="Cortada, X., Taysi, K., Hartmann, A. F. <strong>Familial Williams syndrome.</strong> Clin. Genet. 18: 173-176, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7192194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7192194</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1980.tb00866.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7192194">Cortada et al. (1980)</a> reported the disorder in mother and both twin daughters, presumably dizygotic. One twin had supravalvular and valvular aortic stenosis. The other twin had mild peripheral pulmonary stenosis and mild coarctation of the left pulmonary artery. One twin, who died during cardiac surgery, and the mother had mitral valve prolapse. Intelligence was normal. A stellate pattern of the irides was present in both twins. All 3 had pectus excavatum, hypoplastic nails, and hallux valgus. <a href="#96" class="mim-tip-reference" title="Murphy, M. B., Greenberg, F., Wilson, G., Hughes, M., DiLiberti, J. <strong>Williams syndrome in twins.</strong> Am. J. Med. Genet. Suppl. 6: 97-99, 1990."None>Murphy et al. (1990)</a> added 2 sets of concordantly affected monozygotic twins to the 2 previously reported sets. To the 5 sets of monozygotic twins with WMS previously reported, <a href="#104" class="mim-tip-reference" title="Pankau, R., Gosch, A., Simeoni, E., Wessel, A. <strong>Williams-Beuren syndrome in monozygotic twins with variable expression.</strong> Am. J. Med. Genet. 47: 475-477, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8256808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8256808</a>] [<a href="https://doi.org/10.1002/ajmg.1320470408" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8256808">Pankau et al. (1993)</a> added a pair concordant for the disorder but showing variable expression. Both had typical facial appearance, developmental delay, mild supravalvular aortic stenosis, hypoplasia of both pulmonary arteries, multiple peripheral pulmonary stenoses, and inguinal hernia. One twin had unilateral renal agenesis. A presumably separate disorder was cleft palate in both twins; the father, grandfather, and great-grandfather all had cleft lip with or without cleft palate. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7192194+8256808" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>To the 6 pairs of previously reported monozygotic twins with Williams syndrome, <a href="#14" class="mim-tip-reference" title="Castorina, P., Selicorni, A., Bedeschi, F., Dalpra, L., Larizza, L. <strong>Genotype-phenotype correlation in two sets of monozygotic twins with Williams syndrome.</strong> Am. J. Med. Genet. 69: 107-111, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9066894/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9066894</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19970303)69:1<107::aid-ajmg21>3.0.co;2-s" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9066894">Castorina et al. (1997)</a> added 2 further sets. Monozygosity was confirmed by DNA microsatellite analysis and the clinical diagnosis was confirmed by FISH using a WS-specific probe. Analysis of concordance was assisted by a long follow-up. Most clinical signs were concordant in the twins of each pair, with differences present at younger ages, mainly minor facial anomalies, being attenuated with time. Developmental delay was substantially concordant. Inguinal hernia was present in a single twin in 1 pair. Facial anomalies and other signs attributable to connective tissue abnormalities were also displayed by only 1 twin in both sets, suggesting that the WS genotype has only a predisposing role in the development of these signs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9066894" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Biesecker, L. G., Laxova, R., Friedman, A. <strong>Renal insufficiency in Williams syndrome.</strong> Am. J. Med. Genet. 28: 131-135, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3314505/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3314505</a>] [<a href="https://doi.org/10.1002/ajmg.1320280119" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3314505">Biesecker et al. (1987)</a> described a 19-year-old patient with Williams syndrome who had renal cystic dysplasia and gradual deterioration of renal function, with recurrent episodes of dehydration secondary to a concentrating defect. They suggested that this is a more frequent complication than previously realized. In studies of 40 persons with Williams syndrome who were assessed at an average age of about 7 years, <a href="#112" class="mim-tip-reference" title="Pober, B. R., Lacro, R. V., Rice, C., Mandell, V., Teele, R. L. <strong>Renal findings in 40 individuals with Williams syndrome.</strong> Am. J. Med. Genet. 46: 271-274, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8488870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8488870</a>] [<a href="https://doi.org/10.1002/ajmg.1320460306" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8488870">Pober et al. (1993)</a> found renal abnormalities in 7: nephrocalcinosis in 2, marked asymmetry in kidney size in 2, small kidneys in 1, solitary kidney in 1, and pelvic kidney in 1. Renal artery stenosis was sought in 9 persons who underwent abdominal angiography during cardiac catheterization. Unilateral or bilateral mild renal artery narrowing was found in 4 persons and normal renal arteries in the remaining 5. Persistent hypertension was found in only 2 individuals and did not correlate with renal artery status. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3314505+8488870" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#67" class="mim-tip-reference" title="Knudtzon, J., Aksnes, L., Akslen, L. A., Aarskog, D. <strong>Elevated 1,25-dihydroxyvitamin D and normocalcaemia in presumed familial Williams syndrome.</strong> Clin. Genet. 32: 369-374, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3436085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3436085</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1987.tb03151.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3436085">Knudtzon et al. (1987)</a> described 2 brothers with Williams syndrome who did not have hypercalcemia. One boy died during the first month of life. His brother developed severe microcephaly and cataract and died at the age of 9 years. The skeleton was osteosclerotic at birth and became osteoporotic by the age of 2 years. This brother had persistently elevated 1,25-dihydroxyvitamin D levels during the first 2 years of life, in spite of normocalcemia. At autopsy, microcalcifications were found in the brain and kidneys. <a href="#75" class="mim-tip-reference" title="Maisuls, H., Alday, L. E., Thuer, O. <strong>Cardiovascular findings in the Williams-Beuren syndrome.</strong> Am. Heart J. 114: 897-899, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3661375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3661375</a>] [<a href="https://doi.org/10.1016/0002-8703(87)90803-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3661375">Maisuls et al. (1987)</a> described 2 patients with Williams syndrome and severe mitral regurgitation requiring surgical treatment at ages 8 and 11. Another patient had coarctation of the abdominal aorta. <a href="#51" class="mim-tip-reference" title="Hallidie-Smith, K. A., Karas, S. <strong>Cardiac anomalies in Williams-Beuren syndrome.</strong> Arch. Dis. Child. 63: 809-813, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3415298/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3415298</a>] [<a href="https://doi.org/10.1136/adc.63.7.809" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3415298">Hallidie-Smith and Karas (1988)</a> described the cardiologic findings in 66 patients with the Williams-Beuren syndrome; systemic hypertension was present in 7.8% of the patients, mitral valve prolapse by clinical and echocardiographic criteria in 15%, and bicuspid aortic valve in 11.6%. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3661375+3436085+3415298" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#93" class="mim-tip-reference" title="Morris, C. A., Demsey, S. A., Leonard, C. O., Dilts, C., Blackburn, B. L. <strong>Natural history of Williams syndrome: physical characteristics.</strong> J. Pediat. 113: 318-326, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2456379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2456379</a>] [<a href="https://doi.org/10.1016/s0022-3476(88)80272-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2456379">Morris et al. (1988)</a> reviewed the natural history of Williams syndrome. After delayed growth in the first 4 years of life, catch-up growth occurred with the ultimate attainment of low-normal adult height. Older children developed progressive joint limitation and hypertonia. Hypertension was frequent in adulthood, being present in 8 of 17 adults. <a href="#93" class="mim-tip-reference" title="Morris, C. A., Demsey, S. A., Leonard, C. O., Dilts, C., Blackburn, B. L. <strong>Natural history of Williams syndrome: physical characteristics.</strong> J. Pediat. 113: 318-326, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2456379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2456379</a>] [<a href="https://doi.org/10.1016/s0022-3476(88)80272-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2456379">Morris et al. (1988)</a> referred to the Williams Syndrome National Association, which was a source of patients for review. <a href="#94" class="mim-tip-reference" title="Morris, C. A., Leonard, C. O., Dilts, C., Demsey, S. A. <strong>Adults with Williams syndrome.</strong> Am. J. Med. Genet. Suppl. 6: 102-107, 1990."None>Morris et al. (1990)</a> evaluated 13 adults with Williams syndrome and reviewed the case reports of 16 patients older than 16 years. Hypercalcemia may persist into adulthood. Hypertension was common. Recurrent urinary tract infections led to studies that showed urethral stenosis in some patients and bladder diverticula and vesicoureteral reflux in others. Gastrointestinal problems included chronic constipation and diverticulosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2456379" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 10 adults with Williams syndrome, <a href="#73" class="mim-tip-reference" title="Lopez-Rangel, E., Maurice, M., McGillivray, B., Friedman, J. M. <strong>Williams syndrome in adults.</strong> Am. J. Med. Genet. 44: 720-729, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1481839/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1481839</a>] [<a href="https://doi.org/10.1002/ajmg.1320440605" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1481839">Lopez-Rangel et al. (1992)</a> found supravalvular aortic stenosis in 4, mitral valve prolapse in 3, bicuspid aortic valve in 1, valvular aortic stenosis in 1, and pulmonary stenosis with right ventricular hypertrophy in 1. Mental retardation was seen in all patients. Verbal skills were better developed than motor skills. All patients led active lives and most were involved in sports. Some held supervised jobs. <a href="#21" class="mim-tip-reference" title="Conway, E. E., Jr., Noonan, J., Marion, R. W., Steeg, C. N. <strong>Myocardial infarction leading to sudden death in the Williams syndrome: report of three cases. (Abstract)</strong> Am. J. Hum. Genet. 47 (suppl.): A52, 1990."None>Conway et al. (1990)</a> reported 3 children, aged 8 years, 16 years, and 59 months, who died suddenly with myocardial ischemia following cardiac catheterization. In addition to supravalvular aortic stenosis, all showed stenosis of the left coronary artery and its branches and regions of recent and/or remote myocardial infarction. <a href="#149" class="mim-tip-reference" title="Voit, T., Kramer, H., Thomas, C., Wechsler, W., Reichmann, H., Lenard, H. G. <strong>Mypopathy (sic) in Williams-Beuren syndrome.</strong> Europ. J. Pediat. 150: 521-526, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1915507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1915507</a>] [<a href="https://doi.org/10.1007/BF01958438" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1915507">Voit et al. (1991)</a> pointed to clinical and morphologic evidence of myopathy in this syndrome giving rise to hypotonia in infancy, delayed walking, joint contractures, scoliosis, and increased exhaustion on exertion. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1915507+1481839" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#152" class="mim-tip-reference" title="Wessel, A., Pankau, R., Kececioglu, D., Ruschewski, W., Bursch, J. H. <strong>Three decades of follow-up of aortic and pulmonary vascular lesions in the Williams-Beuren syndrome.</strong> Am. J. Med. Genet. 52: 297-301, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7810560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7810560</a>] [<a href="https://doi.org/10.1002/ajmg.1320520309" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7810560">Wessel et al. (1994)</a> reported results of follow-up cardiologic examination of 59 patients with Williams syndrome. Supravalvular aortic stenosis was found in 57 patients, 17 of whom underwent surgery because of severe stenosis. Aortic hypoplasia was diagnosed in 24 patients, peripheral pulmonary stenosis in 49, and coarctation of the aorta in 4. If patients with SVAS had a pressure gradient of less than 20 mm Hg in infancy, their gradient remained unchanged for the next 20 years. If patients with SVAS had a pressure gradient of more than 20 mm Hg in infancy, their gradient increased in later life. Four of 6 patients with aortic hypoplasia and surgery for SVAS developed restenosis, whereas patients without aortic hypoplasia remained free of restenosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7810560" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#49" class="mim-tip-reference" title="Greenberg, F. <strong>Williams syndrome professional symposium.</strong> Am. J. Med. Genet. Suppl. 6: 85-88, 1990."None>Greenberg (1990)</a> expressed the opinion that no well-documented cases of parent-to-child transmission of classic Williams syndrome have been reported.</p><p>In 3 unrelated families, <a href="#95" class="mim-tip-reference" title="Morris, C. A., Thomas, I. T., Greenberg, F. <strong>Williams syndrome: autosomal dominant inheritance.</strong> Am. J. Med. Genet. 47: 478-481, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8256809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8256809</a>] [<a href="https://doi.org/10.1002/ajmg.1320470409" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8256809">Morris et al. (1993)</a> described Williams syndrome in parent and child: father and son in 1 family and mother and daughter in the other 2. None of the patients had supravalvular aortic stenosis or chromosomal abnormalities. In all 3 families, the parent was diagnosed after identification of the syndrome in the affected child. <a href="#124" class="mim-tip-reference" title="Sadler, L. S., Robinson, L. K., Verdaasdonk, K. R., Gingell, R. <strong>The Williams syndrome: evidence for possible autosomal dominant inheritance.</strong> Am. J. Med. Genet. 47: 468-470, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8256806/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8256806</a>] [<a href="https://doi.org/10.1002/ajmg.1320470406" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8256806">Sadler et al. (1993)</a> reported Williams syndrome in mother and son. <a href="#103" class="mim-tip-reference" title="Ounap, K., Laidre, P., Bartsch, O., Rein, R., Lipping-Sitska, M. <strong>Familial Williams-Beuren syndrome.</strong> Am. J. Med. Genet. 80: 491-493, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9880214/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9880214</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19981228)80:5<491::aid-ajmg10>3.0.co;2-j" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9880214">Ounap et al. (1998)</a> reported WBS in mother and son. The diagnosis was confirmed in the son by molecular cytogenetic analysis using FISH; the mother was deceased and was thus not studied by FISH. Two traits uncommon in WBS were unilateral renal hypoplasia in the mother and a hemivertebra at L5 in the son. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9880214+8256809+8256806" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#65" class="mim-tip-reference" title="Kaplan, P., Levinson, M., Kaplan, B. S. <strong>Cerebral artery stenoses in Williams syndrome cause strokes in childhood.</strong> J. Pediat. 126: 943-945, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7776101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7776101</a>] [<a href="https://doi.org/10.1016/s0022-3476(95)70216-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7776101">Kaplan et al. (1995)</a> pointed out that stenoses in the cerebral arteries can cause strokes with brain damage and chronic hemiparesis in children with Williams syndrome. Increased irritability, loss of consciousness, and seizures were initial signs in 2 patients. One patient, aged 22 years, had episodes of cerebral vascular insufficiency beginning at the age of 3 years at which time moyamoya was diagnosed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7776101" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#128" class="mim-tip-reference" title="Scothorn, D. J., Butler, M. G. <strong>How common is precocious puberty in patients with Williams syndrome? (Letter)</strong> Clin. Dysmorph. 6: 91-93, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9018426/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9018426</a>]" pmid="9018426">Scothorn and Butler (1997)</a> reported the case of a girl with Williams syndrome who had onset of puberty at 7.5 years of age and menarche at 8.5 years of age. They suggested that because intellectual and emotional development of children with this disorder are delayed, pharmacologic and hormonal intervention to delay puberty may be warranted to allow for intellectual and emotional maturation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9018426" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#108" class="mim-tip-reference" title="Partsch, C.-J., Japing, I., Siebert, R., Gosch, A., Wessel, A., Sippell, W. G., Pankau, R. <strong>Central precocious puberty in girls with Williams syndrome.</strong> J. Pediat. 141: 441-444, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12219071/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12219071</a>] [<a href="https://doi.org/10.1067/mpd.2002.127280" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12219071">Partsch et al. (2002)</a> reported a mean age of menarche of 11.5 +/- 1.7 years in 86 females with Williams syndrome compared with 12.9 +/- 1.1 years in a contemporary cohort of 759 girls. They estimated the prevalence of precocious puberty in Williams syndrome as 1 in 5 to 6 girls (18.3%). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12219071" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Broder, K., Reinhardt, E., Ahern, J., Lifton, R., Tamborlane, W., Pober, B. <strong>Elevated ambulatory blood pressure in 20 subjects with Williams syndrome.</strong> Am. J. Med. Genet. 83: 356-360, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10232742/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10232742</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19990423)83:5<356::aid-ajmg2>3.0.co;2-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10232742">Broder et al. (1999)</a> confirmed previous findings of hypertension in Williams syndrome. They studied blood pressure using 24-hour ambulatory BP monitoring in 20 WS subjects and found that they had significantly higher ambulatory blood pressures than controls. The diagnosis of WS added approximately 10 mm Hg to mean daytime and nighttime BPs. Hypertension, defined by elevated mean daytime BP, was present in 40% of WS patients versus 14% of controls; among the children studied, this difference was even more dramatic, with 46% of WS children versus 6% of control children classified as hypertensive. Parental reporting of a history of infantile hypercalcemia was strongly associated with the presence of hypertension. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10232742" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Since the elastin protein is a major component of elastic fibers in the dermis of the skin, <a href="#27" class="mim-tip-reference" title="Dridi, S. M., Ghomrasseni, S., Bonnet, D., Aggoun, Y., Vabres, P., Bodemer, C., Lyonnet, S., de Prost, Y., Fraitag, S., Pellat, B., Sidi, D., Godeau, G. <strong>Skin elastic fibers in Williams syndrome.</strong> Am. J. Med. Genet. 87: 134-138, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10533027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10533027</a>]" pmid="10533027">Dridi et al. (1999)</a> evaluated elastic fibers in the dermis of 10 Williams syndrome patients, all of whom were shown by FISH to have 7q11.23 deletions. Patients with Williams syndrome showed disorganized pre-elastic and mature elastic fibers when compared with 5 healthy children and 1 patient with isolated supravalvular aortic stenosis. The authors concluded that skin biopsies may provide a simple means to elucidate the extracellular matrix anomalies associated with Williams syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10533027" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#68" class="mim-tip-reference" title="Kozel, B. A., Bayliss, S. J., Berk, D. R., Waxler, J. L., Knutsen, R. H., Danback, J. R., Pober, B. R. <strong>Skin findings in Williams syndrome.</strong> Am. J. Med. Genet. 164A: 2217-2225, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24920525/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24920525</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24920525[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.36628" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24920525">Kozel et al. (2014)</a> specifically evaluated the dermatologic features of 94 WBS patients ranging from 7 to 50 years of age. Compared to the general population, WBS patients had higher incidences of soft skin (83%), premature graying of the hair (80% of those 20 years or older), wrinkles (92%), and abnormal scarring (33%). Biomechanical studies showed that patients had statistically significant differences in the pressure required to lift the skin, the time required to raise the skin through a prescribed gradient, viscoelasticity, and skin displacement parameters compared to controls, all consistent with easier stretching and decreased stiffness of WBS skin. The differences in skin elasticity observed in WBS patients did not correlate with the presence of vascular defects, suggesting the presence of tissue-specific modifiers that modulate the impact of elastin insufficiency resulting from haploinsufficiency of the elastin gene (ELN; <a href="/entry/130160">130160</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24920525" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#123" class="mim-tip-reference" title="Sadler, L. S., Pober, B. R., Grandinetti, A., Scheiber, D., Fekete, G., Sharma, A. N., Urban, Z. <strong>Differences by sex in cardiovascular disease in Williams syndrome.</strong> J. Pediat. 139: 849-853, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11743512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11743512</a>] [<a href="https://doi.org/10.1067/mpd.2001.118889" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11743512">Sadler et al. (2001)</a> did a retrospective analysis of the incidence and severity of cardiovascular disease in Williams syndrome in 127 patients. The prevalence of SVAS was 44 (35%) of 127. Statistical analysis revealed that the severity of both SVAS and total cardiovascular disease was significantly greater in male than female patients. <a href="#123" class="mim-tip-reference" title="Sadler, L. S., Pober, B. R., Grandinetti, A., Scheiber, D., Fekete, G., Sharma, A. N., Urban, Z. <strong>Differences by sex in cardiovascular disease in Williams syndrome.</strong> J. Pediat. 139: 849-853, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11743512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11743512</a>] [<a href="https://doi.org/10.1067/mpd.2001.118889" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11743512">Sadler et al. (2001)</a> also observed that the clinical diagnosis of WS was made at a significantly younger age in male patients and that this was partly because of increased incidence and severity of cardiovascular disease. <a href="#120" class="mim-tip-reference" title="Rose, C., Wessel, A., Pankau, R., Partsch, C.-J., Bursch, J. <strong>Anomalies of the abdominal aorta in Williams-Beuren syndrome--another cause of arterial hypertension.</strong> Europ. J. Pediat. 160: 655-658, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11760021/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11760021</a>] [<a href="https://doi.org/10.1007/s004310100835" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11760021">Rose et al. (2001)</a> followed 112 patients with WS since 1975 and studied 25 of them by aortography. Twenty of 25 patients had vascular stenosis, of whom 19 were affected by segmental narrowing either of the thoracic aorta (9) or the abdominal aorta (7) or both (3). Hypoplasia of the abdominal aorta was characterized by the smallest diameters at the renal artery level and an increased diameter of the infrarenal abdominal aorta. Eleven patients had renal artery stenosis associated with narrowing of other aortic segments in 10 cases. Of 17 patients with hypertension, 2 had no vascular lesions; and in the remaining 15 patients, stenosis was present in more than 1 segment. <a href="#120" class="mim-tip-reference" title="Rose, C., Wessel, A., Pankau, R., Partsch, C.-J., Bursch, J. <strong>Anomalies of the abdominal aorta in Williams-Beuren syndrome--another cause of arterial hypertension.</strong> Europ. J. Pediat. 160: 655-658, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11760021/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11760021</a>] [<a href="https://doi.org/10.1007/s004310100835" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11760021">Rose et al. (2001)</a> concluded that hypertension is a common symptom and must be regarded as a manifestation of generalized arteriopathy rather than renal hypoperfusion. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11760021+11743512" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#43" class="mim-tip-reference" title="Giannotti, A., Tiberio, G., Castro, M., Virgilii, F., Colistro, F., Ferretti, F., Digilio, M. C., Gambarara, M., Dallapiccola, B. <strong>Coeliac disease in Williams syndrome.</strong> J. Med. Genet. 38: 767-768, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11694549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11694549</a>] [<a href="https://doi.org/10.1136/jmg.38.11.767" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11694549">Giannotti et al. (2001)</a> reported a study of celiac disease (<a href="/entry/212750">212750</a>) in 63 Italian WS patients. The dosage of antigliadin antibodies and antiendomisium antibodies was analyzed, and 6 patients positive for these antibodies underwent small bowel biopsy. Celiac disease was present in 6 (9.5%) WS patients, compared with 1 of 184 (0.54%) Italian children (p less than 0.001). <a href="#43" class="mim-tip-reference" title="Giannotti, A., Tiberio, G., Castro, M., Virgilii, F., Colistro, F., Ferretti, F., Digilio, M. C., Gambarara, M., Dallapiccola, B. <strong>Coeliac disease in Williams syndrome.</strong> J. Med. Genet. 38: 767-768, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11694549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11694549</a>] [<a href="https://doi.org/10.1136/jmg.38.11.767" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11694549">Giannotti et al. (2001)</a> suggested screening for celiac disease in patients with WS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11694549" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a retrospective study of 75 patients with WS, <a href="#31" class="mim-tip-reference" title="Eronen, M., Peippo, M., Hiippala, A., Raatikka, M., Arvio, M., Johansson, R., Kahkonen, M. <strong>Cardiovascular manifestations in 75 patients with Williams syndrome.</strong> J. Med. Genet. 39: 554-558, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12161592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12161592</a>] [<a href="https://doi.org/10.1136/jmg.39.8.554" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12161592">Eronen et al. (2002)</a> found that cardiovascular symptoms were evident in 35 patients (47%) at birth. The most common abnormalities were SVAS (73%) and pulmonary artery stenosis (41%). Arterial hypertension was found in 55% of adults. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12161592" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a study of the natural history of Williams syndrome, <a href="#17" class="mim-tip-reference" title="Cherniske, E. M., Carpenter, T. O., Klaiman, C., Young, E., Bregman, J., Insogna, K., Schultz, R. T., Pober, B. R. <strong>Multisystem study of 20 older adults with Williams syndrome.</strong> Am. J. Med. Genet. 131A: 255-264, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15534874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15534874</a>] [<a href="https://doi.org/10.1002/ajmg.a.30400" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15534874">Cherniske et al. (2004)</a> performed multisystem assessment of 20 affected adults over 30 years of age and documented a high frequency of problems in multiple organ systems. The most consistent and striking findings were: abnormal body habitus; mild to moderate high-frequency sensorineural hearing loss; cardiovascular disease and hypertension; gastrointestinal symptoms, including diverticular disease; diabetes and abnormal glucose tolerance on standard oral glucose tolerance testing; subclinical hypothyroidism; decreased bone mineral density on dual energy x-ray absorptiometry (DEXA) scanning; and a high frequency of psychiatric symptoms, most notably anxiety, often requiring multimodal therapy. Brain MRI scans did not demonstrate consistent pathology. The adults were not living independently and the great majority were not competitively employed. One of the patients reported by <a href="#17" class="mim-tip-reference" title="Cherniske, E. M., Carpenter, T. O., Klaiman, C., Young, E., Bregman, J., Insogna, K., Schultz, R. T., Pober, B. R. <strong>Multisystem study of 20 older adults with Williams syndrome.</strong> Am. J. Med. Genet. 131A: 255-264, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15534874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15534874</a>] [<a href="https://doi.org/10.1002/ajmg.a.30400" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15534874">Cherniske et al. (2004)</a> had hypercalcemia, indicating that this feature is not restricted to infancy. Most of the adults had premature graying of the hair starting as early as 16 years of age, a finding that had been reported by <a href="#93" class="mim-tip-reference" title="Morris, C. A., Demsey, S. A., Leonard, C. O., Dilts, C., Blackburn, B. L. <strong>Natural history of Williams syndrome: physical characteristics.</strong> J. Pediat. 113: 318-326, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2456379/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2456379</a>] [<a href="https://doi.org/10.1016/s0022-3476(88)80272-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2456379">Morris et al. (1988)</a>. This feature, together with an earlier than expected onset of cataracts and high-frequency sensorineural hearing loss, suggested mild accelerated aging, which may additionally complicate the long-term course of older adults with WS. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2456379+15534874" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#78" class="mim-tip-reference" title="Marler, J. A., Elfenbein, J. L., Ryals, B. M., Urban, Z., Netzloff, M. L. <strong>Sensorineural hearing loss in children and adults with Williams syndrome.</strong> Am. J. Med. Genet. 138A: 318-327, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16222677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16222677</a>] [<a href="https://doi.org/10.1002/ajmg.a.30970" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16222677">Marler et al. (2005)</a> studied auditory system function in 27 Williams syndrome patients aged 6 to 48 years. They found sensorineural hearing loss in 14 of 18 patients aged 21 or younger. The degree of hearing loss was greater in adults than in children, suggesting early-onset, progressive hearing loss. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16222677" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#48" class="mim-tip-reference" title="Gothelf, D., Farber, N., Raveh, E., Apter, A., Attias, J. <strong>Hyperacusis in Williams syndrome: characteristics and associated neuroaudiologic abnormalities.</strong> Neurology 66: 390-395, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16476938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16476938</a>] [<a href="https://doi.org/10.1212/01.wnl.0000196643.35395.5f" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16476938">Gothelf et al. (2006)</a> found that 41 (84%) of 49 patients with Williams syndrome had moderate to severe hyperacusis beginning in infancy. The most frequent sounds of daily life to which the children were sensitive included electric machines, thunder, bursting balloons, and fireworks. The children responded with marked fear and exhibited aversive behaviors. Hyperacusis peaked at age 5.7 years and tended to decrease somewhat thereafter. Quantitative testing of 21 of these patients revealed discomfort at sound intensities on average 20 dB lower than control individuals. Pure-tone audiometry and distortion product otoacoustic emission tests revealed high-frequency cochlear hearing loss. An absence of ipsilateral acoustic reflex responses to maximum stimulation was also observed. On brain auditory evoked response (BAER) testing, patients with Williams syndrome had a significant prolongation in wave I latency. <a href="#48" class="mim-tip-reference" title="Gothelf, D., Farber, N., Raveh, E., Apter, A., Attias, J. <strong>Hyperacusis in Williams syndrome: characteristics and associated neuroaudiologic abnormalities.</strong> Neurology 66: 390-395, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16476938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16476938</a>] [<a href="https://doi.org/10.1212/01.wnl.0000196643.35395.5f" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16476938">Gothelf et al. (2006)</a> noted that hearing loss in Williams syndrome resembled the configuration of noise-induced hearing loss and suggested that hyperacusis and hearing loss in Williams syndrome resulted from a deficiency in the normally protective acoustic reflex as a result of auditory nerve dysfunction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16476938" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#40" class="mim-tip-reference" title="Game, X., Panicker, J., Fowler, C. J. <strong>Williams-Beuren syndrome. (Letter)</strong> New Eng. J. Med. 362: 1449 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20393184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20393184</a>] [<a href="https://doi.org/10.1056/NEJMc1001965" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20393184">Game et al. (2010)</a> emphasized the urinary abnormalities in patients with WBS, including urinary frequency, urgency, nocturia, bladder diverticula, structural renal anomalies, and recurrent urinary tract infections. The authors noted that urodynamic testing has suggested evidence of detrusor overactivity and detrusor-sphincter dyssynergia in patients with WBS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20393184" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Neurodevelopmental Features</em></strong></p><p>
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<a href="#32" class="mim-tip-reference" title="Ewart, A. K., Morris, C. A., Atkinson, D., Jin, W., Sternes, K., Spallone, P., Stock, A. D., Leppert, M., Keating, M. T. <strong>Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.</strong> Nature Genet. 5: 11-16, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7693128/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7693128</a>] [<a href="https://doi.org/10.1038/ng0993-11" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7693128">Ewart et al. (1993)</a> commented that the IQ in patients with Williams syndrome varies from 20 to 106 (mean = 58). Specific cognitive deficits include poor visual-motor integration. As a result, affected individuals have problems visualizing a complete picture but instead see only the parts. Affected individuals also suffer from attention deficit disorder. Language development, by contrast, is relatively spared and some elements of speech may be enhanced, particularly the quantity and quality of vocabulary, auditory memory, and social use of language. Many patients sing or play musical instruments with considerable expertise and they rarely forget a name. Because of their engaging personalities, language skills, and loquaciousness, mental retardation is often underestimated in children with Williams syndrome. <a href="#46" class="mim-tip-reference" title="Gosch, A., Pankau, R. <strong>Longitudinal study of the cognitive development in children with Williams-Beuren syndrome.</strong> Am. J. Med. Genet. 61: 26-29, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8741913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8741913</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19960102)61:1<26::AID-AJMG5>3.0.CO;2-V" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8741913">Gosch and Pankau (1996)</a> used 2 methods to examine the cognitive abilities of 18 affected children (9 girls and 9 boys) with a mean age of 6.6 years at year one (T1) and approximately 2 years later (T2). The Draw A Person Test showed stable results (mean IQ of 63.5 at T1 and 65 at T2). The Columbia Mental Maturity Scale revealed a significant decrease of IQ (mean IQ of 77 at T1 and 68 at T2). <a href="#46" class="mim-tip-reference" title="Gosch, A., Pankau, R. <strong>Longitudinal study of the cognitive development in children with Williams-Beuren syndrome.</strong> Am. J. Med. Genet. 61: 26-29, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8741913/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8741913</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19960102)61:1<26::AID-AJMG5>3.0.CO;2-V" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8741913">Gosch and Pankau (1996)</a> contended that this change represented a decrease of developmental rate of special abilities such as the application of classifications. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8741913+7693128" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#111" class="mim-tip-reference" title="Plissart, L., Borghgraef, M., Volcke, P., Van den Berghe, H., Fryns, J. P. <strong>Adults with Williams-Beuren syndrome: evaluation of the medical, psychological and behavioral aspects.</strong> Clin. Genet. 46: 161-167, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7820925/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7820925</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1994.tb04218.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7820925">Plissart et al. (1994)</a> studied the psychologic and behavioral characteristics of 11 adult Belgian patients, aged 17 to 66 years. Mental retardation in all patients was moderate or severe. Verbal skills were superior to visuospatial and motor abilities. The most frequent behavioral problems were poor concentration, attention-seeking behavior, and restlessness. The behavioral and emotional disturbances typical for children with Williams syndrome persisted into adulthood. Most patients achieved a good level of autonomy, with the majority living at home with parents and attending a day center. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7820925" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#71" class="mim-tip-reference" title="Lenhoff, H. M., Wang, P. P., Greenberg, F., Bellugi, U. <strong>Williams syndrome and the brain.</strong> Sci. Am. 277: 68-73, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9388834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9388834</a>] [<a href="https://doi.org/10.1038/scientificamerican1297-68" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9388834">Lenhoff et al. (1997)</a> described the remarkable musical and verbal abilities of individuals with Williams syndrome, who perform poorly on standard IQ tests. They usually read and write poorly and struggle with simple arithmetic, but display a facility not only for spoken language but also for recognizing faces. As a group, they tend to be empathetic, loquacious, and sociable. <a href="#71" class="mim-tip-reference" title="Lenhoff, H. M., Wang, P. P., Greenberg, F., Bellugi, U. <strong>Williams syndrome and the brain.</strong> Sci. Am. 277: 68-73, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9388834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9388834</a>] [<a href="https://doi.org/10.1038/scientificamerican1297-68" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9388834">Lenhoff et al. (1997)</a> presented pictures, suggesting that children with Williams syndrome were an inspiration for pixie legends, and pointed out that the 'wee, magical people' of assorted folktales were often musicians and storytellers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9388834" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#45" class="mim-tip-reference" title="Gosch, A., Pankau, R. <strong>Social-emotional and behavioral adjustment in children with Williams-Beuren syndrome.</strong> Am. J. Med. Genet. 53: 335-339, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7864042/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7864042</a>] [<a href="https://doi.org/10.1002/ajmg.1320530406" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7864042">Gosch and Pankau (1994)</a> compared behavioral characteristics in 19 children with Williams syndrome, aged 4 to 10 years, to those in a control group matched for age, gender, and nonverbal reasoning abilities. The children with Williams syndrome were more unreserved with and more willing to follow strangers, hypersensitive to sounds, and less socially adjusted than the control children. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7864042" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#85" class="mim-tip-reference" title="Mervis, C. B., Robinson, B. F., Pani, J. R. <strong>Visuospatial construction.</strong> Am. J. Hum. Genet. 65: 1222-1229, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10521286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10521286</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10521286[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/302633" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10521286">Mervis et al. (1999)</a> discussed the subject of visuospatial constructive abilities in persons with normal intelligence and in persons with Williams syndrome or small deletions in the Williams syndrome region. They reviewed behavioral genetic studies of visuospatial constructive ability, which suggested that a substantial portion of the individual differences found among people of normal intelligence has a genetic basis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10521286" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The behavioral phenotype in Williams syndrome suggests a dorsal and/or ventral developmental dissociation, with defects in dorsal but not the ventral hemispheric visual stream. A shortened extent of the dorsal central sulcus had been observed in autopsy specimens. <a href="#39" class="mim-tip-reference" title="Galaburda, A. M., Schmitt, J. E., Atlas, S. W., Eliez, S., Bellugi, U., Reiss, A. L. <strong>Dorsal forebrain anomaly in Williams syndrome.</strong> Arch. Neurol. 58: 1865-1869, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11708996/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11708996</a>] [<a href="https://doi.org/10.1001/archneur.58.11.1865" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11708996">Galaburda et al. (2001)</a> compared gross anatomic features between the dorsal and ventral portions of the cerebral hemispheres by examining the dorsal extent of the central sulcus in MRI images from 21 subjects with WMS and age- and sex-matched control subjects. They found that the dorsal central sulcus was less likely to reach the interhemispheric fissure in subjects with WMS than in controls for both right and left hemispheres. No differences between the groups were found in the ventral extent of the central sulcus. They concluded that early neurodevelopmental problems affect the development of the dorsal forebrain and are probably related to the deficits in visuospatial ability and behavioral timing often observed in Williams syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11708996" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#127" class="mim-tip-reference" title="Schmitt, J. E., Eliez, S., Bellugi, U., Reiss, A. L. <strong>Analysis of cerebral shape in Williams syndrome.</strong> Arch. Neurol. 58: 283-287, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11176967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11176967</a>] [<a href="https://doi.org/10.1001/archneur.58.2.283" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11176967">Schmitt et al. (2001)</a> performed brain MRI on 20 patients with Williams syndrome to determine how cerebral shape differs from that of normal controls. In Williams syndrome, both cerebral hemispheres and the corpus callosum bend to a lesser degree in the sagittal plane, which the authors believed to be due to variation in the parietooccipital region. In addition, the cerebral hemispheres and corpus callosum midline lengths were decreased in Williams syndrome. <a href="#127" class="mim-tip-reference" title="Schmitt, J. E., Eliez, S., Bellugi, U., Reiss, A. L. <strong>Analysis of cerebral shape in Williams syndrome.</strong> Arch. Neurol. 58: 283-287, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11176967/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11176967</a>] [<a href="https://doi.org/10.1001/archneur.58.2.283" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11176967">Schmitt et al. (2001)</a> suggested that the brain findings are consistent with aberrant premature termination of brain development, which proceeds normally in the rostrocaudal direction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11176967" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#70" class="mim-tip-reference" title="Lenhoff, H. M., Perales, O., Hickok, G. <strong>Absolute pitch in Williams syndrome.</strong> Music Perception 18: 491-503, 2001."None>Lenhoff et al. (2001)</a> evaluated 5 patients with Williams syndrome for absolute musical pitch (AP; see <a href="/entry/159300">159300</a>), which is the ability to recognize, name, and reproduce the pitch of a musical note without reference. The 5 patients had a mean IQ of 58 but were able to read musical notation. They began to play music at ages 5, 7, 8, 10, and 11 years, respectively. As a group, the 5 patients scored 97.5% on 1,084 absolute pitch trials, indicating that they possessed exceptional abilities in absolute pitch. By comparison, cognitively intact musicians who claim to have AP scored 84.3% on similar tests. <a href="#70" class="mim-tip-reference" title="Lenhoff, H. M., Perales, O., Hickok, G. <strong>Absolute pitch in Williams syndrome.</strong> Music Perception 18: 491-503, 2001."None>Lenhoff et al. (2001)</a> suggested that the prevalence of AP in individuals with Williams syndrome is higher than that in the general Western population (1 in 10,000) and noted that the age window of AP acquisition in Williams syndrome appears to be extended compared to the general population. <a href="#52" class="mim-tip-reference" title="Hickok, G., Bellugi, U., Jones, W. <strong>Asymmetrical ability. (Letter)</strong> Science 270: 219-220, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7569963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7569963</a>]" pmid="7569963">Hickok et al. (1995)</a> reported that brain imaging of patients with Williams syndrome suggested an exaggerated left-right asymmetry of the planum temporale, which had also been found in musicians with absolute pitch (<a href="#126" class="mim-tip-reference" title="Schlaug, G., Jancke, L., Huang, Y., Steinmetz, H. <strong>In vivo evidence of structural brain asymmetry in musicians.</strong> Science 267: 699-701, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7839149/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7839149</a>] [<a href="https://doi.org/10.1126/science.7839149" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7839149">Schlaug et al., 1995</a>), suggesting a neuroanatomical correlate to the ability. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7569963+7839149" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Patients with Williams syndrome have relatively good abilities in face recognition and discrimination. Using functional MRI to assess facial recognition, <a href="#90" class="mim-tip-reference" title="Mobbs, D., Garrett, A. S., Menon, V., Rose, F. E., Bellugi, U., Reiss, A. L. <strong>Anomalous brain activation during face and gaze processing in Williams syndrome.</strong> Neurology 62: 2070-2076, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15184616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15184616</a>] [<a href="https://doi.org/10.1212/01.wnl.0000129536.95274.dc" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15184616">Mobbs et al. (2004)</a> found that 11 patients with WS showed increased activation in the right fusiform gyrus and several frontal and temporal regions, including subcortical structures. By contrast, control individuals showed greater activation in the primary and secondary visual cortices. The findings suggested that patients with WS have impairments in the visual cortical regions and use frontal and temporal regions as a compensatory mechanism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15184616" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Primate visual cortex is organized into 2 functionally specialized, hierarchically organized processing pathways: a ventral stream for object processing and a dorsal stream for spatial processing. Patients with Williams syndrome show a visuospatial constructive deficit, which is an inability to visualize an object as a set of parts or to construct a replica. Using multimodal neuroimaging techniques, <a href="#87" class="mim-tip-reference" title="Meyer-Lindenberg, A., Kohn, P., Mervis, C. B., Kippenhan, J. S., Olsen, R. K., Morris, C. A., Berman, K. F. <strong>Neural basis of genetically determined visuospatial construction deficit in Williams syndrome.</strong> Neuron 43: 623-631, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15339645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15339645</a>] [<a href="https://doi.org/10.1016/j.neuron.2004.08.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15339645">Meyer-Lindenberg et al. (2004)</a> found that 13 high-functioning individuals with WS showed significant hypoactivation in dorsal stream areas during different visual tasks compared to controls. No differences were found in the ventral stream. Structural imaging studies showed that individuals with WS had gray matter volume reduction in the parietooccipital/intraparietal sulcus, immediately adjacent to the region of hypofunction, suggesting a structural-functional connection. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15339645" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#88" class="mim-tip-reference" title="Meyer-Lindenberg, A., Mervis, C. B., Sarpal, D., Koch, P., Steele, S., Kohn, P., Marenco, S., Morris, C. A., Das, S., Kippenhan, S., Mattay, V. S., Weinberger, D. R., Berman, K. F. <strong>Functional, structural, and metabolic abnormalities of the hippocampal formation in Williams syndrome.</strong> J. Clin. Invest. 115: 1888-1895, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15951840/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15951840</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15951840[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI24892" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15951840">Meyer-Lindenberg et al. (2005)</a> used multimodal neuroimaging to characterize hippocampal structure, function, and metabolic integrity in 12 normal-intelligence patients with Williams syndrome and 12 age-, sex-, and IQ-matched healthy controls. PET and functional MRI studies showed profound reduction in resting blood flow and absent differential response to visual stimuli in the anterior hippocampal formation in patients with Williams syndrome. Spectroscopic measures of N-acetylaspartate, a marker of synaptic activity, were reduced. Hippocampal size was preserved, but subtle alterations in shape were present. <a href="#88" class="mim-tip-reference" title="Meyer-Lindenberg, A., Mervis, C. B., Sarpal, D., Koch, P., Steele, S., Kohn, P., Marenco, S., Morris, C. A., Das, S., Kippenhan, S., Mattay, V. S., Weinberger, D. R., Berman, K. F. <strong>Functional, structural, and metabolic abnormalities of the hippocampal formation in Williams syndrome.</strong> J. Clin. Invest. 115: 1888-1895, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15951840/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15951840</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15951840[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI24892" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15951840">Meyer-Lindenberg et al. (2005)</a> suggested that hippocampal dysfunction might contribute to neurocognitive abnormalities in Williams syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15951840" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Castelo-Branco, M., Mendes, M., Sebastiao, A. R., Reis, A., Soares, M., Saraiva, J., Bernardes, R., Flores, R., Perez-Jurado, L., Silva, E. <strong>Visual phenotype in Williams-Beuren syndrome challenges magnocellular theories explaining human neurodevelopmental visual cortical disorders.</strong> J. Clin. Invest. 117: 3720-3729, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18037993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18037993</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18037993[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI32556" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18037993">Castelo-Branco et al. (2007)</a> presented evidence of a neural defect in the retina of WBS patients. High-resolution imaging techniques found that WBS patients had decreased retinal thickness, abnormal optic disc concavity, and impaired visual responses compared to controls. Low-level magnocellular performance was independent of deficits in the integration of information at higher levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18037993" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#76" class="mim-tip-reference" title="Marenco, S., Siuta, M. A., Kippenhan, J. S., Grodofsky, S., Chang, W., Kohn, P., Mervis, C. B., Morris, C. A., Weinberger, D. R., Meyer-Lindenberg, A., Pierpaoli, C., Berman, K. F. <strong>Genetic contributions to white matter architecture revealed by diffusion tensor imaging in Williams syndrome.</strong> Proc. Nat. Acad. Sci. 104: 15117-15122, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17827280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17827280</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17827280[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0704311104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17827280">Marenco et al. (2007)</a> performed brain diffusion tensor MRI to assess white matter integrity in 5 high-functioning WBS patients. Patients showed significant differences in white matter tissue organization compared to controls, particularly with respect to alterations in the main orientation of fibers underlying abnormalities in the gray matter. There appeared to be an increase in anterior-posterior longitudinal fibers and a reduction in right-to-left transverse axis fibers in the patients, consistent with the finding of other midline defects, such as dysgenesis of the corpus callosum. <a href="#76" class="mim-tip-reference" title="Marenco, S., Siuta, M. A., Kippenhan, J. S., Grodofsky, S., Chang, W., Kohn, P., Mervis, C. B., Morris, C. A., Weinberger, D. R., Meyer-Lindenberg, A., Pierpaoli, C., Berman, K. F. <strong>Genetic contributions to white matter architecture revealed by diffusion tensor imaging in Williams syndrome.</strong> Proc. Nat. Acad. Sci. 104: 15117-15122, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17827280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17827280</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17827280[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0704311104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17827280">Marenco et al. (2007)</a> hypothesized that there is specific alteration in the development of U fibers in the later stages of neuronal migration in patients with WBS and suggested that these abnormal patterns result from deletions of genes within the critical region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17827280" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Atypical Williams-Beuren Syndrome</em></strong></p><p>
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<a href="#92" class="mim-tip-reference" title="Morimoto, M., An, B., Ogami, A., Shin, N., Sugino, Y., Sawai, Y., Usuku, T., Tanaka, M., Hirai, K., Nishimura, A., Hasegawa, K., Sugimoto, T. <strong>Infantile spasms in a patient with Williams syndrome and craniosynostosis.</strong> Epilepsia 44: 1459-1462, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14636357/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14636357</a>] [<a href="https://doi.org/10.1046/j.1528-1157.2003.34703.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14636357">Morimoto et al. (2003)</a> reported a Japanese male with a severe form of WBS associated with craniosynostosis and refractory infantile seizures. At age 5 months, he was diagnosed with peripheral pulmonary stenosis and mild ventricular hypertrophy. The seizures responded to ACTH, which had to be discontinued due to progression of the cardiac hypertrophy. EEG showed a variant of hypsarrhythmia. He also had an elfin face, failure-to-thrive, severe developmental delay, and dental malformation, in addition to congenital heart defects. FISH showed deletion of the elastin gene, and high-resolution chromosome analysis revealed interstitial deletion of 7q11.22-q11.23, consistent with Williams syndrome. At 2 years, his seizures were controlled, but his psychomotor development was severely delayed. Treatment with thyrotropin-releasing hormone (TRH) offered improvement in seizure control. <a href="#79" class="mim-tip-reference" title="Marshall, C. R., Young, E. J., Pani, A. M., Freckmann, M.-L., Lacassie, Y., Howald, C., Fitzgerald, K. K., Peippo, M., Morris, C. A., Shane, K., Priolo, M., Morimoto, M., and 13 others. <strong>Infantile spasms is associated with deletion of the MAG12 gene on chromosome 7q11.23-q21.11.</strong> Am. J. Hum. Genet. 83: 106-111, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18565486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18565486</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.06.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18565486">Marshall et al. (2008)</a> noted that seizures are not common in WBS. Using high resolution mapping to reexamine the patient reported by <a href="#92" class="mim-tip-reference" title="Morimoto, M., An, B., Ogami, A., Shin, N., Sugino, Y., Sawai, Y., Usuku, T., Tanaka, M., Hirai, K., Nishimura, A., Hasegawa, K., Sugimoto, T. <strong>Infantile spasms in a patient with Williams syndrome and craniosynostosis.</strong> Epilepsia 44: 1459-1462, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14636357/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14636357</a>] [<a href="https://doi.org/10.1046/j.1528-1157.2003.34703.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14636357">Morimoto et al. (2003)</a>, <a href="#79" class="mim-tip-reference" title="Marshall, C. R., Young, E. J., Pani, A. M., Freckmann, M.-L., Lacassie, Y., Howald, C., Fitzgerald, K. K., Peippo, M., Morris, C. A., Shane, K., Priolo, M., Morimoto, M., and 13 others. <strong>Infantile spasms is associated with deletion of the MAG12 gene on chromosome 7q11.23-q21.11.</strong> Am. J. Hum. Genet. 83: 106-111, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18565486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18565486</a>] [<a href="https://doi.org/10.1016/j.ajhg.2008.06.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18565486">Marshall et al. (2008)</a> found that the deletion was 4.4-Mb in length and extended telomeric to the classic WBS region. The deletion included the YWHAG gene (<a href="/entry/605356">605356</a>) but did not include the MAGI2 gene (<a href="/entry/606382">606382</a>); see the distal 7q11.23 deletion syndrome (<a href="/entry/613729">613729</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14636357+18565486" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#137" class="mim-tip-reference" title="Tassabehji, M., Hammond, P., Karmiloff-Smith, A., Thompson, P., Thorgeirsson, S. S., Durkin, M. E., Popescu, N. C., Hutton, T., Metcalfe, K., Rucka, A., Stewart, H., Read, A. P., Maconochie, M., Donnai, D. <strong>GTF2IRD1 in craniofacial development of humans and mice.</strong> Science 310: 1184-1187, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16293761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16293761</a>] [<a href="https://doi.org/10.1126/science.1116142" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16293761">Tassabehji et al. (2005)</a> identified an atypical Williams-Beuren syndrome individual with a smaller genetic deletion relative to classic Williams-Beuren syndrome cases but including 2 extratelomeric genes, CYLN2 (<a href="/entry/603432">603432</a>) and GTF2IRD1 (<a href="/entry/604318">604318</a>). The patient was a 4.5-year-old girl with surgically corrected pulmonary artery stenosis. Her birth weight and growth appeared normal, and at 4.5 years her height was just above the 50th centile. Facial features were suggestive of but not classic for Williams-Beuren syndrome. Early developmental milestones such as sitting and walking were within normal limits; however, by 18 months she had a vocabulary of only a few single words and by age 4 she continued to show a delay in language acquisition as well as serious deficits in spatial cognition, but to a lesser degree than that seen in Williams-Beuren syndrome patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16293761" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a study of patients with Williams syndrome, <a href="#118" class="mim-tip-reference" title="Rae, C., Karmiloff-Smith, A., Lee, M. A., Dixon, R. M., Grant, J., Blamire, A. M., Thompson, C. H., Styles, P., Radda, G. K. <strong>Brain biochemistry in Williams syndrome: evidence for a role of the cerebellum in cognition?</strong> Neurology 51: 33-40, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9674775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9674775</a>] [<a href="https://doi.org/10.1212/wnl.51.1.33" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9674775">Rae et al. (1998)</a> found a correlation between performance on neuropsychologic tests and decreases in the amount of neocerebellar N-acetylaspartate when normalized to choline or creatine. They speculated that this could either reflect a global decrease of this neuronal marker in the entire brain, or perhaps evidence of cerebellar involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9674775" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#50" class="mim-tip-reference" title="Grimm, T., Wesselhoeft, H. <strong>Zur Genetik des Williams-Beuren-Syndroms und der isolierten Form der supravalvulaeren Aortenstenose (Untersuchungen von 128 Familien).</strong> Z. Kardiol. 69: 168-172, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7456592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7456592</a>]" pmid="7456592">Grimm and Wesselhoeft (1980)</a> pointed out that supravalvular aortic stenosis has been described as a rare feature of the Marfan syndrome and occurs as a phenocopy of the genetic disorder induced by rubella embryopathy (<a href="#145" class="mim-tip-reference" title="Varghese, P. J., Izukawa, T., Rowe, R. D. <strong>Supravalvular aortic stenosis as part of rubella syndrome, with discussion of pathogenesis.</strong> Brit. Heart J. 31: 59-62, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5764966/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5764966</a>] [<a href="https://doi.org/10.1136/hrt.31.1.59" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5764966">Varghese et al., 1969</a>), by experimental vitamin (<a href="#62" class="mim-tip-reference" title="Jorgensen, G. <strong>Befunde bei speziellen angeborenen Angiokardiopathien (II). In: Becker, P. E.: Humangenetik: Ein kurzes Handbuch in fuenf Baenden. Vol. III, Part 2</strong> Stuttgart: Thieme (pub.) 1972. P. 345."None>Jorgensen, 1972</a>). <a href="#140" class="mim-tip-reference" title="Taylor, A. B., Stern, P. H., Bell, N. H. <strong>Abnormal regulation of circulating 25-hydroxyvitamin D in the Williams syndrome.</strong> New Eng. J. Med. 306: 972-975, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6977721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6977721</a>] [<a href="https://doi.org/10.1056/NEJM198204223061607" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6977721">Taylor et al. (1982)</a> investigated the effects of pharmacologic doses of vitamin D2 given for 4 days to normal children and to children with Williams disease and their sibs. The results indicated an exaggerated increase in serum 25-OH-D in response to challenge with vitamin D in patients with the Williams syndrome and in some of their sibs with no clinical features of the syndrome. Despite the increases in serum 25-OH-D, none of the patients became hypercalcemic. <a href="#41" class="mim-tip-reference" title="Garabedian, M., Jacqz, E., Guillozo, H., Grimberg, R., Guillot, M., Gagnadoux, M.-F., Broyer, M., Lenoir, G., Balsan, S. <strong>Elevated plasma 1,25-dihydroxyvitamin D concentrations in infants with hypercalcemia and an elfin facies.</strong> New Eng. J. Med. 312: 948-952, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3838365/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3838365</a>] [<a href="https://doi.org/10.1056/NEJM198504113121503" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3838365">Garabedian et al. (1985)</a> found high plasma concentrations of 1,25-(OH)2D in 4 children with hypercalcemia and 'elfin facies.' The levels were higher than in 3 children with 'elfin facies' but without hypercalcemia or dysmorphia. In Williams syndrome, a low calcium diet controlled the hypercalcemia. They suggested that an abnormal synthesis or degradation of 1,25-(OH)2D is present in this syndrome. Others (e.g., <a href="#81" class="mim-tip-reference" title="Martin, N. D. T., Snodgrass, G. J. A. I., Makin, H. L. J., Cohen, R. D. <strong>Increased plasma 1,25-dihydroxyvitamin D in infants with hypercalcemia and elfin facies. (Letter)</strong> New Eng. J. Med. 313: 888-889, 1985."None>Martin et al., 1985</a>) questioned this work. From a study of calcium metabolism in 27 normocalcemic children and adults, aged 2 to 47 years, with WBS, <a href="#69" class="mim-tip-reference" title="Kruse, K., Pankau, R., Gosch, A., Wohlfahrt, K. <strong>Calcium metabolism in Williams-Beuren syndrome.</strong> J. Pediat. 121: 902-907, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1333009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1333009</a>] [<a href="https://doi.org/10.1016/s0022-3476(05)80336-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1333009">Kruse et al. (1992)</a> concluded that neither deficient calcitonin secretion nor increased renal sensitivity to parathyroid hormone is a feature in normocalcemic patients. Furthermore, they did not find a significant disturbance in vitamin D metabolism. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5764966+3838365+7456592+1333009+6977721" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Cherniske, E. M., Carpenter, T. O., Klaiman, C., Young, E., Bregman, J., Insogna, K., Schultz, R. T., Pober, B. R. <strong>Multisystem study of 20 older adults with Williams syndrome.</strong> Am. J. Med. Genet. 131A: 255-264, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15534874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15534874</a>] [<a href="https://doi.org/10.1002/ajmg.a.30400" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15534874">Cherniske et al. (2004)</a> reported studies of 20 adults with Williams syndrome (age range 30 to 51 years) in which they observed a 25% prevalence of elevation of serum thyroid-stimulating hormone (TSH; see <a href="/entry/188540">188540</a>) concentration. <a href="#132" class="mim-tip-reference" title="Stagi, S., Bindi, G., Neri, A. S., Lapi, E., Losi, S., Jenuso, R., Salti, R., Chiarelli, F. <strong>Thyroid function and morphology in patients affected by Williams syndrome.</strong> Clin. Endocr. 63: 456-460, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16181239/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16181239</a>] [<a href="https://doi.org/10.1111/j.1365-2265.2005.02365.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16181239">Stagi et al. (2005)</a> analyzed thyroid function and morphology in another 20 patients with Williams syndrome (age range 1.7 to 34.9 years). They likewise found that 25% of the patients showed a TSH elevation; they related this finding to the hypoplasia of the thyroid gland which was evident in about 70% of their patients. <a href="#129" class="mim-tip-reference" title="Selicorni, A., Fratoni, A., Pavesi, M. A., Bottigelli, M., Arnaboldi, E., Milani, D. <strong>Thyroid anomalies in Williams syndrome: investigation of 95 patients.</strong> Am. J. Med. Genet. 140A: 1098-1101, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16596673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16596673</a>] [<a href="https://doi.org/10.1002/ajmg.a.31210" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16596673">Selicorni et al. (2006)</a> reported the results of a morphologic and functional study of the thyroid gland in 95 patients with WS, who periodically underwent a complete survey to detect early complications related to the condition. The study confirmed the increased incidence of both elevated TSH serum values (37.9%) and thyroid gland hypoplasia (74.7%). Moreover, they demonstrated that TSH elevation declined with age. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16181239+16596673+15534874" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#50" class="mim-tip-reference" title="Grimm, T., Wesselhoeft, H. <strong>Zur Genetik des Williams-Beuren-Syndroms und der isolierten Form der supravalvulaeren Aortenstenose (Untersuchungen von 128 Familien).</strong> Z. Kardiol. 69: 168-172, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7456592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7456592</a>]" pmid="7456592">Grimm and Wesselhoeft (1980)</a> estimated the frequency of Williams syndrome to be 1 in 10,000. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7456592" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#134" class="mim-tip-reference" title="Stromme, P., Bjornstad, P. G., Ramstad, K. <strong>Prevalence estimation of Williams syndrome.</strong> J. Child Neurol. 17: 269-271, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12088082/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12088082</a>] [<a href="https://doi.org/10.1177/088307380201700406" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12088082">Stromme et al. (2002)</a> estimated that the Williams-Beuren syndrome occurs at a frequency of approximately 1 in 7,500 live births, with approximately two-thirds of the deletion events being intrachromosomal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12088082" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The <a href="#20" class="mim-tip-reference" title="Committee on Genetics American Academy of Pediatrics. <strong>Health care supervision for children with Williams syndrome.</strong> Pediatrics 107: 1192-1204, 2001. Note: Erratum: Pediatrics 109: 329 only, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11331709/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11331709</a>]" pmid="11331709">Committee on Genetics American Academy of Pediatrics (2001)</a> published a set of guidelines to assist in the health care supervision of children with Williams syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11331709" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#102" class="mim-tip-reference" title="Osborne, L. R. <strong>Williams-Beuren syndrome: unraveling the mysteries of a microdeletion disorder.</strong> Molec. Genet. Metab. 67: 1-10, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10329018/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10329018</a>] [<a href="https://doi.org/10.1006/mgme.1999.2844" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10329018">Osborne (1999)</a> reviewed Williams-Beuren syndrome, including the phenotype and the genes that have been identified as mapping within the WBS common deletion. They discussed the mechanism of deletion and the correlation between extent of deletion and phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10329018" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#110" class="mim-tip-reference" title="Perez Jurado, L. A., Peoples, R., Kaplan, P., Hamel, B. C. J., Francke, U. <strong>Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.</strong> Am. J. Hum. Genet. 59: 781-792, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8808592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8808592</a>]" pmid="8808592">Perez Jurado et al. (1996)</a> investigated the deletion size and frequency on chromosome 7q11.23, determined the parental origin, and correlated the molecular results with the clinical findings in 65 patients with Williams syndrome. They carried out genotyping of WS patients and available parents for 13 polymorphisms and determined that 94% of patients had a deletion of the ELN (<a href="/entry/130160">130160</a>) locus. Analysis of polymorphic markers suggested that the commonly deleted region extended from D7S489B through D7S1870. The D7S489B locus was deleted in all informative patients. No variability in the size of the deletion was detected in the WS patients by genotyping of polymorphic markers. The investigators were able to visualize the common deletion in WS, estimated to be 1.5-2.5 Mb. The D7S489B locus constitutes a lower-copy repeat with at least 2 copies which map close to the WS deletion breakpoints. <a href="#110" class="mim-tip-reference" title="Perez Jurado, L. A., Peoples, R., Kaplan, P., Hamel, B. C. J., Francke, U. <strong>Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.</strong> Am. J. Hum. Genet. 59: 781-792, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8808592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8808592</a>]" pmid="8808592">Perez Jurado et al. (1996)</a> proposed that these repeats may provide a mechanism for aberrant recombination or replication events. All 4 patients with normal dosage at the ELN locus had biparental inheritance at all informative loci tested. <a href="#110" class="mim-tip-reference" title="Perez Jurado, L. A., Peoples, R., Kaplan, P., Hamel, B. C. J., Francke, U. <strong>Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.</strong> Am. J. Hum. Genet. 59: 781-792, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8808592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8808592</a>]" pmid="8808592">Perez Jurado et al. (1996)</a> noted that clinical reevaluation of these 4 patients was consistent with a diagnosis of WS based on the presence, during some period of development, of characteristic facial features, mental retardation, and strongly suggestive cognitive and personality profiles. They noted that 3 of the 4 patients were above the 50th centile for height and head circumference. None of them had hypercalcemia or vascular stenoses. <a href="#110" class="mim-tip-reference" title="Perez Jurado, L. A., Peoples, R., Kaplan, P., Hamel, B. C. J., Francke, U. <strong>Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.</strong> Am. J. Hum. Genet. 59: 781-792, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8808592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8808592</a>]" pmid="8808592">Perez Jurado et al. (1996)</a> reported that in 39 families informative for parental origin, all deletions were de novo and 18 were paternally and 21 maternally derived. They noted that comparison of clinical data collected in a standardized quantifiable format revealed more severe growth retardation and microcephaly in the maternal deletion group. <a href="#110" class="mim-tip-reference" title="Perez Jurado, L. A., Peoples, R., Kaplan, P., Hamel, B. C. J., Francke, U. <strong>Molecular definition of the chromosome 7 deletion in Williams syndrome and parent-of-origin effects on growth.</strong> Am. J. Hum. Genet. 59: 781-792, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8808592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8808592</a>]" pmid="8808592">Perez Jurado et al. (1996)</a> proposed that an imprinted locus, silent on the paternal chromosome and contributing to statural growth, may be affected by the deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8808592" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#29" class="mim-tip-reference" title="Dutly, F., Schinzel, A. <strong>Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome.</strong> Hum. Molec. Genet. 5: 1893-1898, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8968740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8968740</a>] [<a href="https://doi.org/10.1093/hmg/5.12.1893" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8968740">Dutly and Schinzel (1996)</a> carried out molecular genetic studies in 15 families with WBS. They demonstrated deletion of the ELN gene in all of the probands. The 15 families consisting of patients, parents, and paternal or maternal grandparents were genotyped using microsatellites adjacent to the centromeric or telomeric end of ELN. They demonstrated that in 10 out of 15 WBS families (67%) with a de novo deletion within 7q11.23, the segment flanking the deleted region contained recombined haplotypes. These recombination events indicated that deletion was the result of an unequal crossing-over event between the chromosome 7 homologs during gametogenesis. In 5 of the 15 families there was no recombination on either side of the deletion. <a href="#29" class="mim-tip-reference" title="Dutly, F., Schinzel, A. <strong>Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome.</strong> Hum. Molec. Genet. 5: 1893-1898, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8968740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8968740</a>] [<a href="https://doi.org/10.1093/hmg/5.12.1893" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8968740">Dutly and Schinzel (1996)</a> postulated that in these families there may be intrachromosomal recombination. They noted that unequal recombination events are mediated by related gene sequences or repetitive elements and that the elastin gene has relatively large introns characterized by repetitive elements. <a href="#37" class="mim-tip-reference" title="Frangiskakis, J. M., Ewart, A. K., Morris, C. A., Mervis, C. B., Bertrand, J., Robinson, B. F., Klein, B. P., Ensing, G. J., Everett, L. A., Green, E. D., Proschel, C., Gutowski, N. J., Noble, M., Atkinson, D. L., Odelberg, S. J., Keating, M. T. <strong>LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition.</strong> Cell 86: 59-69, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8689688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8689688</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)80077-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8689688">Frangiskakis et al. (1996)</a> reported that breakpoints in the LIM kinase-1 gene (LIMK1; <a href="/entry/601329">601329</a>), which is adjacent to ELN, occur within Alu repeats. <a href="#29" class="mim-tip-reference" title="Dutly, F., Schinzel, A. <strong>Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome.</strong> Hum. Molec. Genet. 5: 1893-1898, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8968740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8968740</a>] [<a href="https://doi.org/10.1093/hmg/5.12.1893" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8968740">Dutly and Schinzel (1996)</a> concluded that a practical consequence of their findings is improved prediction of recurrence risks for sibs of a WBS-affected proband since a recombination event around the deleted segment indicates meiotic recombination which is unlikely to recur. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8689688+8968740" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#107" class="mim-tip-reference" title="Pankau, R., Siebert, R., Kautza, M., Schneppenheim, R., Gosch, A., Wessel, A., Partsch, C.-J. <strong>Familial Williams-Beuren syndrome showing varying clinical expression.</strong> Am. J. Med. Genet. 98: 324-329, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11170076/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11170076</a>] [<a href="https://doi.org/10.1002/1096-8628(20010201)98:4<324::aid-ajmg1103>3.0.co;2-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11170076">Pankau et al. (2001)</a> reported 2 families in which girls had inherited Williams-Beuren syndrome from their mothers. In all 4 patients the clinical diagnosis was supported by the molecular cytogenetic detection of a hemizygous deletion at 7q11.23. Considerable variation in the clinical manifestations of the syndrome within and between these families was noted. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11170076" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Deletion at the ELN Gene Locus</em></strong></p><p>
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Loss of an ELN (<a href="/entry/130160">130160</a>) allele produces the cardiovascular pathology of Williams-Beuren syndrome (review by <a href="#113" class="mim-tip-reference" title="Pober, B. R. <strong>Williams-Beuren syndrome.</strong> New Eng. J. Med. 362: 239-252, 2010. Note: Erratum: New Eng. J. Med. 362: 2142 only, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20089974/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20089974</a>] [<a href="https://doi.org/10.1056/NEJMra0903074" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20089974">Pober, 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20089974" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In studies in 4 familial and 5 sporadic cases of Williams syndrome, <a href="#32" class="mim-tip-reference" title="Ewart, A. K., Morris, C. A., Atkinson, D., Jin, W., Sternes, K., Spallone, P., Stock, A. D., Leppert, M., Keating, M. T. <strong>Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.</strong> Nature Genet. 5: 11-16, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7693128/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7693128</a>] [<a href="https://doi.org/10.1038/ng0993-11" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7693128">Ewart et al. (1993)</a> identified hemizygosity at the elastin locus (ELN) resulting from deletion. Loss of heterozygosity for DNA markers was the first clue; fluorescence in situ hybridization and quantitative Southern analysis confirmed this finding. The neurobehavioral features of Williams syndrome described earlier are not easily explained by hemizygosity at the ELN locus. The linkage and physical mapping data of <a href="#32" class="mim-tip-reference" title="Ewart, A. K., Morris, C. A., Atkinson, D., Jin, W., Sternes, K., Spallone, P., Stock, A. D., Leppert, M., Keating, M. T. <strong>Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.</strong> Nature Genet. 5: 11-16, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7693128/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7693128</a>] [<a href="https://doi.org/10.1038/ng0993-11" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7693128">Ewart et al. (1993)</a> suggested that the deletions associated with Williams syndrome extend beyond the ELN (<a href="/entry/130160">130160</a>) locus, spanning at least 114 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7693128" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Taking advantage of a large series (27 cases) of sporadic Williams syndrome, <a href="#44" class="mim-tip-reference" title="Gilbert-Dussardier, B., Bonneau, D., Gigarel, N., Le Merrer, M., Bonnet, D., Philip, N., Serville, F., Verloes, A., Rossi, A., Ayme, S., Weissenbach, J., Mattei, M.-G., Lyonnet, S., Munnich, A. <strong>A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome. (Letter)</strong> Am. J. Hum. Genet. 56: 542-544, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7847392/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7847392</a>]" pmid="7847392">Gilbert-Dussardier et al. (1995)</a> explored the potential application of novel microsatellite DNA markers in the rapid detection of hemizygosity in WBS. They found that a highly informative marker at locus D7S1870 could detect failure of parental inheritance in almost 75% of cases in their series. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7847392" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#98" class="mim-tip-reference" title="Nickerson, E., Greenberg, F., Keating, M. T., McCaskill, C., Shaffer, L. G. <strong>Deletions of the elastin gene at 7q11.23 occur in approximately 90% of patients with Williams syndrome.</strong> Am. J. Hum. Genet. 56: 1156-1161, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7726172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7726172</a>]" pmid="7726172">Nickerson et al. (1995)</a> investigated the frequency of deletions of the ELN gene in patients with Williams syndrome using both fluorescence in situ hybridization (FISH) and PCR amplification of a dinucleotide repeat polymorphism. In 40 of the 44 patients tested (91%), FISH demonstrated deletion of the ELN gene. Using the DNA polymorphism, both maternally (39%) and paternally (61%), derived deletions were found. Thus, FISH analysis proved a rapid and informative test to confirm a clinical diagnosis of Williams syndrome. However, the presence of 2 copies of the ELN locus in a patient does not rule out the diagnosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7726172" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a series of 235 patients, <a href="#74" class="mim-tip-reference" title="Lowery, M. C., Morris, C. A., Ewart, A., Brothman, L. J., Zhu, X. L., Leonard, C. O., Carey, J. C., Keating, M., Brothman, A. R. <strong>Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients.</strong> Am. J. Hum. Genet. 57: 49-53, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7611295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7611295</a>]" pmid="7611295">Lowery et al. (1995)</a> identified molecular cytogenetic deletions by FISH in 96% of patients with classic WBS. Patients included 195 solicited through the Williams Syndrome Association, plus 40 clinical cytogenetics cases referred by primary-care physicians. On the basis of photographs and medical records of most subjects from the Association, 114 of the patients were identified as 'classic' and 39 'uncertain.' Whereas 96% of the classic WMS subjects showed deletion, only 3 of 39 of the uncertain patients showed a deletion. Of the 42 who were not classified phenotypically, because of lack of clinical information, 25 patients (60%) showed a deletion. In 15 of 40 (38%) of clinical cytogenetics cases, they found an ELN deletion and no cytogenetic deletion by banded analysis. Results supported the usefulness of FISH for the detection of elastin deletions as an initial diagnostic assay for WMS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7611295" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#77" class="mim-tip-reference" title="Mari, A., Amati, F., Mingarelli, R., Giannotti, A., Sebastio, G., Colloridi, V., Novelli, G., Dallapiccola, B. <strong>Analysis of the elastin gene in 60 patients with clinical diagnosis of Williams syndrome.</strong> Hum. Genet. 96: 444-448, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7557968/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7557968</a>] [<a href="https://doi.org/10.1007/BF00191804" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7557968">Mari et al. (1995)</a> used an intragenic RFLP and gene dosage of the elastin gene with a new probe to analyze 60 sporadic cases with the clinical diagnosis of Williams syndrome. Deletion of the ELN gene was shown in 54 cases; clinical reevaluation of the 6 patients without demonstrable deletion did not confirm the diagnosis of WBS. The results supported the genetic homogeneity of WBS and the high accuracy of ELN molecular analysis. By using FISH as a diagnostic tool, <a href="#7" class="mim-tip-reference" title="Borg, I., Delhanty, J. D. A., Baraitser, M. <strong>Detection of hemizygosity at the elastin locus by FISH analysis as a diagnostic test in both classical and atypical cases of Williams syndrome.</strong> J. Med. Genet. 32: 692-696, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8544187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8544187</a>] [<a href="https://doi.org/10.1136/jmg.32.9.692" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8544187">Borg et al. (1995)</a> demonstrated hemizygosity at the ELN locus in all 5 cases considered to be classic Williams syndrome and in 3 of 5 atypical cases. Prominence of the thyroid cartilage and thinning of the cheeks (with loss of jowls) occurred with advancing age. A friendly disposition was found in all patients with the microdeletion, but the degree of loquacity decreased as the severity of mental retardation increased. Hyperacusis was also a constant feature. Hypercalcemia was documented in only 2 of the patients with submicroscopic microdeletion but surprisingly was documented in both patients lacking the chromosomal abnormality. By FISH, <a href="#9" class="mim-tip-reference" title="Brewer, C. M., Morrison, N., Tolmie, J. L. <strong>Clinical and molecular cytogenetic (FISH) diagnosis of Williams syndrome.</strong> Arch. Dis. Child. 74: 59-61, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8660051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8660051</a>] [<a href="https://doi.org/10.1136/adc.74.1.59" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8660051">Brewer et al. (1996)</a> found hemizygosity for an ELN gene probe in all of 16 children in adolescence with a firm clinical diagnosis of Williams syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8544187+7557968+8660051" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Deletion of the RFC2 Gene</em></strong></p><p>
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<a href="#109" class="mim-tip-reference" title="Peoples, R., Perez-Jurado, L., Wang, Y.-K., Kaplan, P., Francke, U. <strong>The gene for replication factor C subunit 2 (RFC2) is within the 7q11.23 Williams syndrome deletion.</strong> Am. J. Hum. Genet. 58: 1370-1373, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8651315/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8651315</a>]" pmid="8651315">Peoples et al. (1996)</a> reported that the RFC2 (<a href="/entry/600404">600404</a>) gene product was deleted in 18 of 18 patients with Williams syndrome. Deletion of RFC2 was demonstrated by analysis of somatic cell hybrids in which the normal and the Williams causing chromosome from a particular patient were separated. RFC2 deletion was also demonstrated by FISH. They noted that the 40-kD protein product encoded by RFC2 is one of 5 subunits of the replication factor C complex. They postulated that deletion of RFC2 subunits may lead to reduced efficiency of DNA replication, which could account for growth deficiency as well as developmental disturbances. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8651315" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Deletion of the LIMK1 Gene</em></strong></p><p>
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<a href="#138" class="mim-tip-reference" title="Tassabehji, M., Metcalfe, K., Fergusson, W. D., Carette, M. J. A., Dore, J. K., Donnai, D., Read, A. P., Proschel, C., Gutowski, N. J., Mao, X., Sheer, D. <strong>LIM-kinase deleted in Williams syndrome.(Letter)</strong> Nature Genet. 13: 272-273, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8673124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8673124</a>] [<a href="https://doi.org/10.1038/ng0796-272" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8673124">Tassabehji et al. (1996)</a> found that in addition to the ELN gene (<a href="/entry/130160">130160</a>), the gene that encodes LIM kinase (LIMK1; <a href="/entry/601329">601329</a>) is deleted in Williams syndrome. To identify genes important for human cognitive development, <a href="#37" class="mim-tip-reference" title="Frangiskakis, J. M., Ewart, A. K., Morris, C. A., Mervis, C. B., Bertrand, J., Robinson, B. F., Klein, B. P., Ensing, G. J., Everett, L. A., Green, E. D., Proschel, C., Gutowski, N. J., Noble, M., Atkinson, D. L., Odelberg, S. J., Keating, M. T. <strong>LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition.</strong> Cell 86: 59-69, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8689688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8689688</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)80077-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8689688">Frangiskakis et al. (1996)</a> studied Williams syndrome patients who show poor visuospatial constructive cognition. They described 2 families with a partial WS phenotype; affected members had the specific WS cognitive profile and vascular disease, but lacked other WS features. Submicroscopic 7q11.23 deletions cosegregated with the phenotype in both families. DNA sequence analyses of the region affected by the smallest deletion (83.6 kb) revealed both the ELN gene and the LIMK1 gene. The latter is strongly expressed in the brain. Because ELN mutations cause vascular disease but not cognitive abnormalities, <a href="#37" class="mim-tip-reference" title="Frangiskakis, J. M., Ewart, A. K., Morris, C. A., Mervis, C. B., Bertrand, J., Robinson, B. F., Klein, B. P., Ensing, G. J., Everett, L. A., Green, E. D., Proschel, C., Gutowski, N. J., Noble, M., Atkinson, D. L., Odelberg, S. J., Keating, M. T. <strong>LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition.</strong> Cell 86: 59-69, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8689688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8689688</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)80077-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8689688">Frangiskakis et al. (1996)</a> suggested that LIMK1 hemizygosity is implicated in the impaired visuospatial constructive cognition of Williams syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8673124+8689688" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Deletion of the GTF2IRD1/GTF2I Gene Cluster</em></strong></p><p>
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<a href="#137" class="mim-tip-reference" title="Tassabehji, M., Hammond, P., Karmiloff-Smith, A., Thompson, P., Thorgeirsson, S. S., Durkin, M. E., Popescu, N. C., Hutton, T., Metcalfe, K., Rucka, A., Stewart, H., Read, A. P., Maconochie, M., Donnai, D. <strong>GTF2IRD1 in craniofacial development of humans and mice.</strong> Science 310: 1184-1187, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16293761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16293761</a>] [<a href="https://doi.org/10.1126/science.1116142" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16293761">Tassabehji et al. (2005)</a> identified an atypical WBS individual with a smaller genetic deletion relative to classic WBS cases but including 2 extratelomeric genes, CYLN2 (<a href="/entry/603432">603432</a>) and GTF2IRD1 (<a href="/entry/604318">604318</a>). The patient showed milder facial dysmorphism and cognitive deficits than those seen in classic WBS cases. Studies in mouse showed that homozygous loss of Gtf2ird1 results in craniofacial abnormalities reminiscent of those seen in WBS, together with growth retardation and neurologic abnormalities. Taken together, these observations implicated GTF2IRD1 in mammalian craniofacial and cognitive development. <a href="#137" class="mim-tip-reference" title="Tassabehji, M., Hammond, P., Karmiloff-Smith, A., Thompson, P., Thorgeirsson, S. S., Durkin, M. E., Popescu, N. C., Hutton, T., Metcalfe, K., Rucka, A., Stewart, H., Read, A. P., Maconochie, M., Donnai, D. <strong>GTF2IRD1 in craniofacial development of humans and mice.</strong> Science 310: 1184-1187, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16293761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16293761</a>] [<a href="https://doi.org/10.1126/science.1116142" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16293761">Tassabehji et al. (2005)</a> suggested that cumulative dosage of TFII-I family genes explains the main phenotypes of WBS; Gtf2ird1-null mice and classic WBS individuals have 2 functioning copies (in trans and cis, respectively), whereas the atypical patient had 3 functioning genes of the GTF2IRD1/GTF2I (<a href="/entry/601679">601679</a>) cluster and showed milder WBS phenotypes. <a href="#30" class="mim-tip-reference" title="Edelmann, L., Prosnitz, A., Pardo, S., Bhatt, J., Cohen, N., Lauriat, T., Ouchanov, L., Gonzalez, P. J., Manghi, E. R., Bondy, P., Esquivel, M., Monge, S., Delgado, M. F., Splendore, A., Francke, U., Burton, B. K., McInnes, L. A. <strong>An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism.</strong> J. Med. Genet. 44: 136-143, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16971481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16971481</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16971481[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2006.044537" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16971481">Edelmann et al. (2007)</a> reported a 6.5-year-old girl with autism (<a href="/entry/209850">209850</a>) who also had the cognitive-behavioral profile associated with WBS, including severely impaired visuospatial processing and friendly personality despite impaired social interaction. However, she did not have other classic medical or physical features of WBS. Molecular studies detected a large de novo heterozygous 2.4 to 3.1-kb deletion that overlapped slightly with the distal end of the WBS critical region, including the GTF2IRD1, GTF2I, and about 15 other genes. <a href="#30" class="mim-tip-reference" title="Edelmann, L., Prosnitz, A., Pardo, S., Bhatt, J., Cohen, N., Lauriat, T., Ouchanov, L., Gonzalez, P. J., Manghi, E. R., Bondy, P., Esquivel, M., Monge, S., Delgado, M. F., Splendore, A., Francke, U., Burton, B. K., McInnes, L. A. <strong>An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism.</strong> J. Med. Genet. 44: 136-143, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16971481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16971481</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16971481[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2006.044537" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16971481">Edelmann et al. (2007)</a> suggested that the findings implicated hemizygosity for GTF2IRD1 and GTF2I in the visuospatial construction deficit characteristic of WBS. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16971481+16293761" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Collette, J. C., Chen, X.-N., Mills, D. L., Galaburda, A. M., Reiss, A. L., Bellugi, U., Korenberg, J. R. <strong>William's syndrome: gene expression is related to parental origin and regional coordinate control.</strong> J. Hum. Genet. 54: 193-198, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19282872/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19282872</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19282872[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/jhg.2009.5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19282872">Collette et al. (2009)</a> used quantitative RT-PCR to determine the transcriptional level of 14 WBS markers in a cohort of 77 WBS patients and 48 controls, and observed that the parental origin of the deletion contributes to the level of expression of GTF2I independently of age and gender, with significantly lower expression when the single remaining copy is located on the paternally derived chromosome (p = 0.0002). Correlation of expression of GTF2I and some other genes in the WBS region differed between WBS patients and controls, pointing to a regulatory role for the GTF2I gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19282872" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Deletion of the FKBP6 Gene</em></strong></p><p>
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<a href="#86" class="mim-tip-reference" title="Metcalfe, K., Simeonov, E., Beckett, W., Donnai, D., Tassabehji, M. <strong>Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6.</strong> Clin. Dysmorph. 14: 61-65, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15770126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15770126</a>]" pmid="15770126">Metcalfe et al. (2005)</a> described a Bulgarian father and son with WBS detected by fluorescence in situ hybridization (with an elastin gene probe) and loss of heterozygosity mapping using microsatellite markers located in the critical region. The father and son appeared to have a common WBS heterozygous deletion, confirming the expected dominant transmission and adding to the few familial cases reported. The deletion included the FKBP6 gene (<a href="/entry/604839">604839</a>) which has been shown to play a role in homologous chromosome pairing in meiosis and male fertility in mouse models. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15770126" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Delineation of the WBS Critical Region</em></strong></p><p>
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<a href="#142" class="mim-tip-reference" title="Urban, Z., Helms, C., Fekete, G., Csiszar, K., Bonnet, D., Munnich, A., Donis-Keller, H., Boyd, C. D. <strong>7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover. (Letter)</strong> Am. J. Hum. Genet. 59: 958-962, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8808614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8808614</a>]" pmid="8808614">Urban et al. (1996)</a> analyzed 7q deletions in 31 sporadic WS cases. Patients and family members were genotyped for 3 ELN gene markers. These included a tetranucleotide repeat polymorphism within the first intron of elastin, a CA-repeat polymorphism within intron 18, and an RmaI RFLP within exon 20 of the ELN gene. In addition, 6 dinucleotide repeat polymorphic markers were analyzed. <a href="#142" class="mim-tip-reference" title="Urban, Z., Helms, C., Fekete, G., Csiszar, K., Bonnet, D., Munnich, A., Donis-Keller, H., Boyd, C. D. <strong>7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover. (Letter)</strong> Am. J. Hum. Genet. 59: 958-962, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8808614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8808614</a>]" pmid="8808614">Urban et al. (1996)</a> used genotype data to generate haplotypes. They reported that the ELN gene markers detected hemizygosity in 25 informative Williams syndrome patients. One D7S1870 allele was deleted in 27 informative WS patients. Another distal locus (D7S849) was hemizygous in 4 of the 31 patients. This finding led <a href="#142" class="mim-tip-reference" title="Urban, Z., Helms, C., Fekete, G., Csiszar, K., Bonnet, D., Munnich, A., Donis-Keller, H., Boyd, C. D. <strong>7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover. (Letter)</strong> Am. J. Hum. Genet. 59: 958-962, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8808614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8808614</a>]" pmid="8808614">Urban et al. (1996)</a> to conclude that size heterogeneity of the Williams region exists. Their mapping and haplotype studies indicated that a large portion of genomic DNA distal to the ELN gene is missing in most WS patients with supravalvular aortic stenosis. Their results were consistent with deletions spanning 0.9 to 2.5 Mb, and they concluded that these deletions may involve several genes, suggesting that WS is a contiguous gene syndrome. <a href="#142" class="mim-tip-reference" title="Urban, Z., Helms, C., Fekete, G., Csiszar, K., Bonnet, D., Munnich, A., Donis-Keller, H., Boyd, C. D. <strong>7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover. (Letter)</strong> Am. J. Hum. Genet. 59: 958-962, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8808614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8808614</a>]" pmid="8808614">Urban et al. (1996)</a> reported that WS patients in all of the 12 families analyzed by them were not only deleted for at least 1 marker in the ELN region but also had apparent recombination between proximal and distal markers flanking the deletion. In contrast, homologous chromosomes in the same WS patients did not show any recombination event. <a href="#142" class="mim-tip-reference" title="Urban, Z., Helms, C., Fekete, G., Csiszar, K., Bonnet, D., Munnich, A., Donis-Keller, H., Boyd, C. D. <strong>7q11.23 deletions in Williams syndrome arise as a consequence of unequal meiotic crossover. (Letter)</strong> Am. J. Hum. Genet. 59: 958-962, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8808614/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8808614</a>]" pmid="8808614">Urban et al. (1996)</a> concluded that these data implicated meiotic recombination as the underlying mechanism of the deletion associated with WS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8808614" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#101" class="mim-tip-reference" title="Osborne, L. R., Martindale, D., Scherer, S. W., Shi, X.-M., Huizenga, J., Heng, H. H. Q., Costa, T., Pober, B., Lew, L., Brinkman, J., Rommens, J., Koop, B., Tsui, L.-C. <strong>Identification of genes from a 500-kb region at 7q11.23 that is commonly deleted in Williams syndrome patients.</strong> Genomics 36: 328-336, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8812460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8812460</a>] [<a href="https://doi.org/10.1006/geno.1996.0469" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8812460">Osborne et al. (1996)</a> constructed a physical map of a 500-kb region in 7q11.23 that they determined to be deleted in a collection of 30 WBS patients. This region, which extends 35 kb 5-prime and 430 kb 3-prime of the ELN gene, contains 9 transcription units, including the ELN, LIMK1, RFC2, and WSCR1 (<a href="/entry/603431">603431</a>) genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8812460" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#159" class="mim-tip-reference" title="Wu, Y.-Q., Sutton, V. R., Nickerson, E., Lupski, J. R., Potocki, L., Korenberg, J. R., Greenberg, F., Tassabehji, M., Shaffer, L. G. <strong>Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.</strong> Am. J. Med. Genet. 78: 82-89, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9637430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9637430</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19980616)78:1<82::aid-ajmg17>3.0.co;2-k" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9637430">Wu et al. (1998)</a> defined the minimal critical deletion region on 7q in 63 WMS patients, using 10 microsatellite markers and 5 fluorescence in situ hybridization probes flanking the ELN gene. These studies showed deletions of consistent size. In all informative cases deleted at ELN, the deletion extended from D7S489U to D7S1870. The genetic distance between these 2 markers is about 2 cM. Of the 51 informative patients with deletions, 29 were maternal and 22 were paternal in origin. There was no evidence for effects on stature by examining gender, ethnicity, cardiac status, or parental origin of the deletion. Heteroduplex analysis for the LIMK1 gene did not show any mutations in patients with WMS in this series who did not have deletions at ELN. On the other hand, LIMK1 deletions were found in all elastin-deletion patients who had WMS. One patient, who had isolated supravalvular aortic stenosis and an elastin deletion, did not have a deletion at LIMK1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9637430" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#82" class="mim-tip-reference" title="Meng, X., Lu, X., Li, Z., Green, E. D., Massa, H., Trask, B. J., Morris, C. A., Keating, M. T. <strong>Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel gene.</strong> Hum. Genet. 103: 590-599, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9860302/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9860302</a>] [<a href="https://doi.org/10.1007/s004390050874" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9860302">Meng et al. (1998)</a> undertook to identify genes involved in the contiguous gene deletion syndrome of Williams that explained phenotypic features. Hemizygosity of elastin (ELN; <a href="/entry/130160">130160</a>) had been shown to be responsible for supravalvular aortic stenosis, and hemizygosity for LIM-kinase 1 (LIMK1; <a href="/entry/601329">601329</a>) had been implicated as contributing factor to impaired visual-spatial constructive cognition in Williams syndrome. Additional genes were sought to account for other features such as mental retardation, infantile hypercalcemia, and unique personality profile. They presented a physical mapping encompassing 1.5 Mb DNA that is commonly deleted in individuals with WS. Three novel genes were identified in the common deletion region: TBL2 (<a href="/entry/605842">605842</a>), BCL7B (<a href="/entry/605846">605846</a>), and WBSCR14 (<a href="/entry/605678">605678</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9860302" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Botta, A., Novelli, G., Mari, A., Novelli, A., Sabani, M., Korenberg, J., Osborne, L. R., Digilio, M. C., Giannotti, A., Dallapiccola, B. <strong>Detection of an atypical 7q11.23 deletion in Williams syndrome patients which does not include the STX1A and FZD3 genes.</strong> J. Med. Genet. 36: 478-480, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10874638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10874638</a>]" pmid="10874638">Botta et al. (1999)</a> described 2 patients with the full Williams syndrome phenotype who carried deletions from the ELN gene to marker D7S1870. This region excludes the candidate genes STX1A (<a href="/entry/186590">186590</a>) and FZD9 (<a href="/entry/601766">601766</a>), and defines a region estimated to be less than 1 Mb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10874638" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#158" class="mim-tip-reference" title="Wu, Y.-Q., Nickerson, E., Shaffer, L. G., Keppler-Noreuil, K., Muilenburg, A. <strong>A case of Williams syndrome with a large, visible cytogenetic deletion.</strong> J. Med. Genet. 36: 928-932, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10636739/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10636739</a>]" pmid="10636739">Wu et al. (1999)</a> reported a child with typical features of Williams syndrome, including supravalvular aortic stenosis, short stature, hypercalcemia, facial dysmorphism, and stellate irides. In addition, severe mental retardation with little speech, macrocephaly, and retinal changes not seen in Williams syndrome were present. The child had a cytogenetically visible deletion extending from D7S849 to beyond D7S440 telomeric of D7S1870. <a href="#158" class="mim-tip-reference" title="Wu, Y.-Q., Nickerson, E., Shaffer, L. G., Keppler-Noreuil, K., Muilenburg, A. <strong>A case of Williams syndrome with a large, visible cytogenetic deletion.</strong> J. Med. Genet. 36: 928-932, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10636739/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10636739</a>]" pmid="10636739">Wu et al. (1999)</a> also demonstrated that the deletion included the CACNL2A gene (<a href="/entry/114204">114204</a>) and suggested that the patient might be susceptible to malignant hyperthermia (see <a href="/entry/154276">154276</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10636739" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#28" class="mim-tip-reference" title="Duba, H.-C., Doll, A., Neyer, M., Erdel, M., Mann, C., Hammerer, I., Utermann, G., Grzeschik, K.-H. <strong>The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome.</strong> Europ. J. Hum. Genet. 10: 351-361, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12080386/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12080386</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200812" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12080386">Duba et al. (2002)</a> investigated a family with a cytogenetically balanced translocation t(7;16)(q11.23;q13) in which the 5 translocation carriers manifested a wide variation in phenotype, ranging from a hoarse voice as the only feature, partial WBS with or without SVAS, to the full WBS phenotype. DNA sequence analysis showed that the breakpoint on chromosome 7 was within intron 5 of the ELN gene and on chromosome 16 within intron 1 of the GPR56 gene (<a href="/entry/604110">604110</a>). In the course of the rearrangement, no basepair was lost from either the chromosome 7 or chromosome 16 sequences. The chromosomal breakpoints in the 5 translocation carriers were identical, and FISH analysis of the WBS critical region indicated that no predisposing inversion of the WBS region had occurred prior to the translocation. <a href="#28" class="mim-tip-reference" title="Duba, H.-C., Doll, A., Neyer, M., Erdel, M., Mann, C., Hammerer, I., Utermann, G., Grzeschik, K.-H. <strong>The elastin gene is disrupted in a family with a balanced translocation t(7;16)(q11.23;q13) associated with a variable expression of the Williams-Beuren syndrome.</strong> Europ. J. Hum. Genet. 10: 351-361, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12080386/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12080386</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200812" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12080386">Duba et al. (2002)</a> speculated that the expected phenotype in the reported family would be SVAS, not WBS, and proposed a long-range position effect caused by the translocation event as the most likely explanation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12080386" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#66" class="mim-tip-reference" title="Kara-Mostefa, A., Raoul, O., Lyonnet, S., Amiel, J., Munnich, A., Vekemans, M., Magnier, S., Ossareh, B., Bonnefont, J.-P. <strong>Recurrent Williams-Beuren syndrome in a sibship suggestive of maternal germ-line mosaicism.</strong> Am. J. Hum. Genet. 64: 1475-1478, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10205282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10205282</a>] [<a href="https://doi.org/10.1086/302362" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10205282">Kara-Mostefa et al. (1999)</a> reported an instance of recurrent WBS in 2 sibs with deletions on the maternally inherited haploidentical chromosome. The authors interpreted this as suggesting a premeiotic intrachromosomal event leading to gonadal mosaicism in the mother. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10205282" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#143" class="mim-tip-reference" title="Valero, M. C., de Luis, O., Cruces, J., Perez Jurado, L. A. <strong>Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams-Beuren syndrome arose at breakpoint sites of an evolutionary inversion(s).</strong> Genomics 69: 1-13, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11013070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11013070</a>] [<a href="https://doi.org/10.1006/geno.2000.6312" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11013070">Valero et al. (2000)</a> found that 3 large region-specific segmental duplication or low copy repeat elements (centromeric, medial, and telomeric LCRs), each composed of 3 differentiated blocks designated A, B, and C, flank the WBS common deletion region. <a href="#2" class="mim-tip-reference" title="Bayes, M., Magano, L. F., Rivera, N., Flores, R., Perez Jurado, L. A. <strong>Mutational mechanisms of Williams-Beuren syndrome deletions.</strong> Am. J. Hum. Genet. 73: 131-151, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12796854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12796854</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12796854[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/376565" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12796854">Bayes et al. (2003)</a> determined the exact deletion size and LCR copy number in 74 patients with WBS, as well as precisely defined deletion breakpoints in 30 of them, using LCR-specific nucleotide differences. Most patients (95%) exhibited a 1.55-Mb deletion caused by recombination between centromeric and medial block B copies, which share approximately 99.6% sequence identity along 105 to 143 kb. In these cases, deletion breakpoints were mapped at several sites within the recombinant block B, with a cluster (more than 27%) occurring at a 12-kb region within the GTF2I gene (<a href="/entry/601679">601679</a>). Almost one-third (28%) of the transmitting progenitors were found to be heterozygous for an inversion between centromeric and telomeric LCRs. All deletion breakpoints in the patients with the inversion occurred in the distal 38-kb block B region only present in the telomeric and medial copies. Only 4 patients (5%) displayed a large deletion (approximately 1.84 Mb) caused by recombination between centromeric and medial block A copies. <a href="#2" class="mim-tip-reference" title="Bayes, M., Magano, L. F., Rivera, N., Flores, R., Perez Jurado, L. A. <strong>Mutational mechanisms of Williams-Beuren syndrome deletions.</strong> Am. J. Hum. Genet. 73: 131-151, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12796854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12796854</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12796854[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/376565" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12796854">Bayes et al. (2003)</a> proposed models for the specific pairing and precise aberrant recombination leading to each of the different germline rearrangements that occur in this region, including inversions and deletions associated with WBS. Chromosomal instability at 7q11.23 is directly related to the genomic structure of the region. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12796854+11013070" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#151" class="mim-tip-reference" title="Wang, M. S., Schinzel, A., Kotzot, D., Balmer, D., Casey, R., Chodirker, B. N., Gyftodimou, J., Petersen, M. B., Lopez-Rangel, E., Robinson, W. P. <strong>Molecular and clinical correlation study of Williams-Beuren syndrome: no evidence of molecular factors in the deletion region or imprinting affecting clinical outcome.</strong> Am. J. Med. Genet. 86: 34-43, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10440826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10440826</a>]" pmid="10440826">Wang et al. (1999)</a> analyzed 85 confirmed cases of 7q11.23 deletion and Williams-Beuren syndrome. Deletion of this region is responsible for 90 to 95% of all clinically typical cases. No statistically significant associations were found between clinical features and deletion size, inherited ELN and LIMK1 alleles, gender, and parental origin of the deletion. The data did not support the presence of imprinted genes in the WBS common deletion, despite a nonsignificant excess of maternal over paternal deletions. Maternal deletion cases were more likely to have a large head circumference. Pairwise comparisons between individual WBS clinical features showed significant association between (1) low birth weight and poor postnatal weight gain and (2) transient infantile hypercalcemia and a stellate iris pattern. The latter association was thought possibly to indicate a common underlying etiology. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10440826" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#139" class="mim-tip-reference" title="Tassabehji, M. <strong>Williams-Beuren syndrome: a challenge for genotype-phenotype correlations.</strong> Hum. Molec. Genet. 12: R229-R237, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12952863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12952863</a>] [<a href="https://doi.org/10.1093/hmg/ddg299" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12952863">Tassabehji (2003)</a> reviewed genotype-phenotype correlations in Williams syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12952863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The WBS locus is prone to recurrent chromosomal rearrangements, including the microdeletion that causes WBS. Reciprocal duplications of the WBS interval should also occur, and <a href="#131" class="mim-tip-reference" title="Somerville, M. J., Mervis, C. B., Young, E. J., Seo, E.-J., del Campo, M., Bamforth, S., Peregrine, E., Loo, W., Lilley, M., Perez-Jurado, L. A., Morris, C. A., Scherer, S. W., Osborne, L. R. <strong>Severe expressive-language delay related to duplication of the Williams-Beuren locus.</strong> New Eng. J. Med. 353: 1694-1701, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16236740/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16236740</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16236740[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1056/NEJMoa051962" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16236740">Somerville et al. (2005)</a> described such a case. The most striking phenotype was a severe delay in expressive speech, in contrast to the normal articulation and fluent expressive language observed in persons with WBS. The results suggested that specific genes at 7q11.23 are exquisitely sensitive to dosage alterations that can influence human language and visuospatial capabilities. See <a href="/entry/609757">609757</a> for a discussion of the WBS duplication syndrome, which is the reciprocal of the microdeletion that underlies the Williams-Beuren syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16236740" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#24" class="mim-tip-reference" title="Dai, L., Bellugi, U., Chen, X.-N., Pulst-Korenberg, A. M., Jarvinen-Pasley, A., Tirosh-Wagner, T., Eis, P. S., Graham, J., Mills, D., Searcy, Y., Korenberg, J. R. <strong>Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays.</strong> Am. J. Med. Genet. 149A: 302-314, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19205026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19205026</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19205026[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.32652" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19205026">Dai et al. (2009)</a> provided a detailed genotype/phenotype analysis of a 7-year-old girl with WBS resulting from an atypical 7q11.2 deletion (<a href="#58" class="mim-tip-reference" title="Jarvinen-Pasley, A., Bellugi, U., Reilly, J., Mills, D. L., Galaburda, A., Reiss, A. L., Korenberg, J. R. <strong>Defining the social phenotype in Williams syndrome: a model for linking gene, the brain, and behavior.</strong> Dev. Psychopathol. 20: 1-35, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18211726/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18211726</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18211726[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1017/S0954579408000011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18211726">Jarvinen-Pasley et al., 2008</a>). She had some specific features of the disorder, including growth delay, characteristic facies, cardiovascular involvement with pulmonic stenosis and hypertension, delayed growth, and deficits in visual-spatial construction. However, in contrast to the usual findings in WBS, she had normal developmental milestones, comparatively high cognitive function, and did not have the typical delay in language or overly social behavior. By high-resolution oligonucleotide array CGH analysis, multicolor FISH analysis, and PCR analysis of somatic cell hybrids, they showed that the 1.26- to 1.31-Mb deletion included most of FKBP6, possibly NSUN5 (<a href="/entry/615732">615732</a>) and TRIM50 (<a href="/entry/612548">612548</a>), and all of the other genes in the interval through GTF2IRD1, but not GTF2I. Neuropsychologic studies showed that the patient had IQ scores 1 to 23 standard deviations above typical WBS children. <a href="#24" class="mim-tip-reference" title="Dai, L., Bellugi, U., Chen, X.-N., Pulst-Korenberg, A. M., Jarvinen-Pasley, A., Tirosh-Wagner, T., Eis, P. S., Graham, J., Mills, D., Searcy, Y., Korenberg, J. R. <strong>Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays.</strong> Am. J. Med. Genet. 149A: 302-314, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19205026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19205026</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19205026[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.32652" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19205026">Dai et al. (2009)</a> postulated that deletion of the GTF2I gene may not play a role in some of the physical aspects of WBS, but may play an important role in some aspects of cognition and social behavior seen in the disorder. Since the patient did demonstrate defects in visual-spatial construction, deletion of GTF2IRD1 may play a role in that specific dysfunction. <a href="#24" class="mim-tip-reference" title="Dai, L., Bellugi, U., Chen, X.-N., Pulst-Korenberg, A. M., Jarvinen-Pasley, A., Tirosh-Wagner, T., Eis, P. S., Graham, J., Mills, D., Searcy, Y., Korenberg, J. R. <strong>Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays.</strong> Am. J. Med. Genet. 149A: 302-314, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19205026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19205026</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19205026[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.32652" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19205026">Dai et al. (2009)</a> also found no correlation between neurocognitive performance and social behavior among 20 patients with typical WBS, suggesting that the normal social behavior in the atypical patient did not result from better cognition. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19205026+18211726" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#36" class="mim-tip-reference" title="Ferrero, G. B., Howald, C., Micale, L, Biamino, E., Augello, B., Fusco, C., Turturo, M. G., Forzano, S., Reymond, A., Merla, G. <strong>An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.</strong> Europ. J. Hum. Genet. 18: 33-38, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19568270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19568270</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19568270[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2009.108" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19568270">Ferrero et al. (2010)</a> reported an 11-year-old Italian boy with a mild form of WBS with mild facial features, normal IQ, and only some of the neuropsychologic features of the disorder, including visual-spatial defects and performance deficits. Although he demonstrated an extroverted personality in infancy, this disappeared as he got older. FISH analysis and quantitative PCR studies identified a de novo 0.84 to 0.94-Mb deletion in the core of the WBS critical region that partially included the BAZ1B gene (<a href="/entry/605681">605681</a>), but did not include the GTF2IRD1 or GTF2I genes. The findings were consistent with the hypothesis that hemizygosity of the GTF2IRD1 and GTF2I genes may be involved in the facial dysmorphism and specific motor and cognitive deficits observed in WBS patients, since extremes of these features were not found in the patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19568270" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#84" class="mim-tip-reference" title="Mervis, C. B., Dida, J., Lam, E., Crawford-Zelli, N. A., Young, E. J., Henderson, D. R., Onay, T., Morris, C. A., Woodruff-Borden, J., Yeomans, J., Osborne, L. R. <strong>Duplication of GTF2I results in separation anxiety in mice and humans.</strong> Am. J. Hum. Genet. 90: 1064-1070, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22578324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22578324</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22578324[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.04.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22578324">Mervis et al. (2012)</a> found that patients with WBS duplication syndrome (<a href="/entry/609757">609757</a>) had significantly higher levels of separation anxiety (see <a href="/entry/607834">607834</a>) compared to patients with WBS and to the general population. Using a parental assessment form with review by a psychologist, <a href="#84" class="mim-tip-reference" title="Mervis, C. B., Dida, J., Lam, E., Crawford-Zelli, N. A., Young, E. J., Henderson, D. R., Onay, T., Morris, C. A., Woodruff-Borden, J., Yeomans, J., Osborne, L. R. <strong>Duplication of GTF2I results in separation anxiety in mice and humans.</strong> Am. J. Hum. Genet. 90: 1064-1070, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22578324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22578324</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22578324[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.04.012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22578324">Mervis et al. (2012)</a> determined that 8 (29.6%) of 27 children with WBS duplication syndrome had separation anxiety disorder compared to only 9 (4.2%) of 214 patients with WBS. In addition, the proportion of WBS duplication patients with the disorder was significantly higher than in the general population (2.3%). Similar findings were obtained using a second assessment tool. Compared to mice with 1 or 2 copies of the Gtf2i gene, transgenic mice with 3 or 4 copies of the Gtf2i gene showed significantly increased maternal separation-induced anxiety as measured by ultrasonic vocalizations. The findings implicated a role for the GTF2I gene in separation anxiety. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22578324" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#144" class="mim-tip-reference" title="Vandeweyer, G., Van der Aa, N., Reyniers, E., Kooy, R. F. <strong>The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.</strong> Am. J. Hum. Genet. 90: 1071-1078, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22608712/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22608712</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22608712[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.04.020" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22608712">Vandeweyer et al. (2012)</a> reported 2 healthy adult sibs with a heterozygous 83-kb deletion including only the CLIP2 gene (<a href="/entry/603432">603432</a>). The individuals were ascertained during a study involving a relative with global developmental delay due to another cause. Detailed physical and neurocognitive testing of the sibs with the CLIP2 deletion did not reveal any abnormalities in either individual. The findings suggested that haploinsufficiency for CLIP2 is not critical for the cognitive profile of WBS, which is in contrast to earlier studies that had implicated CLIP2 in some clinical manifestations of the disorder (see, e.g., <a href="#137" class="mim-tip-reference" title="Tassabehji, M., Hammond, P., Karmiloff-Smith, A., Thompson, P., Thorgeirsson, S. S., Durkin, M. E., Popescu, N. C., Hutton, T., Metcalfe, K., Rucka, A., Stewart, H., Read, A. P., Maconochie, M., Donnai, D. <strong>GTF2IRD1 in craniofacial development of humans and mice.</strong> Science 310: 1184-1187, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16293761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16293761</a>] [<a href="https://doi.org/10.1126/science.1116142" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16293761">Tassabehji et al., 2005</a>, <a href="#24" class="mim-tip-reference" title="Dai, L., Bellugi, U., Chen, X.-N., Pulst-Korenberg, A. M., Jarvinen-Pasley, A., Tirosh-Wagner, T., Eis, P. S., Graham, J., Mills, D., Searcy, Y., Korenberg, J. R. <strong>Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays.</strong> Am. J. Med. Genet. 149A: 302-314, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19205026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19205026</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19205026[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.32652" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19205026">Dai et al., 2009</a>, <a href="#36" class="mim-tip-reference" title="Ferrero, G. B., Howald, C., Micale, L, Biamino, E., Augello, B., Fusco, C., Turturo, M. G., Forzano, S., Reymond, A., Merla, G. <strong>An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.</strong> Europ. J. Hum. Genet. 18: 33-38, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19568270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19568270</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19568270[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2009.108" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19568270">Ferrero et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16293761+19568270+22608712+19205026" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#61" class="mim-tip-reference" title="Jones, K. L. <strong>Williams syndrome: an historical perspective of its evolution, natural history, and etiology.</strong> Am. J. Med. Genet. Suppl. 6: 89-96, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2118785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2118785</a>] [<a href="https://doi.org/10.1002/ajmg.1320370616" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2118785">Jones (1990)</a> speculated that calcitonin-gene-related peptide (<a href="/entry/114130">114130</a>) may be implicated in this disorder. Using 5 restriction enzymes in the study of 13 families, each with at least 1 affected member, <a href="#54" class="mim-tip-reference" title="Hitman, G. A., Garde, L., Daoud, W., Snodgrass, G. J. A. I., Cohen, R. D. <strong>The calcitonin-CGRP gene in the infantile hypercalcemia/Williams-Beuren syndrome.</strong> J. Med. Genet. 26: 609-613, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2486208/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2486208</a>] [<a href="https://doi.org/10.1136/jmg.26.10.609" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2486208">Hitman et al. (1989)</a> could find no abnormality of the calcitonin-CGRP gene. Furthermore, no association of the Williams-Beuren syndrome with polymorphism of this gene or of the parathormone (<a href="/entry/168450">168450</a>) locus was found. <a href="#122" class="mim-tip-reference" title="Russo, A. F., Chamany, K., Klemish, S. W., Hall, T. M., Murray, J. C. <strong>Characterization of the calcitonin/CGRP gene in Williams syndrome.</strong> Am. J. Med. Genet. 39: 28-33, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1867260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1867260</a>] [<a href="https://doi.org/10.1002/ajmg.1320390108" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1867260">Russo et al. (1991)</a> found no abnormality of the calcitonin/CGRP gene on Southern blot analysis of white blood cell DNA in 5 patients. Furthermore, the possibility of small deletions or point mutations within the exon encoding the mature calcitonin hormone was considered unlikely based on the negative findings of ribonuclease protection assays with patient DNA amplified by PCR. Thus the calcitonin deficiency found in these patients may be due either to mutations elsewhere in the gene or to defects in the cellular machinery needed for calcitonin synthesis and/or secretion. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2486208+2118785+1867260" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>As with many other haploinsufficiency diseases, the mechanism underlying the WBS deletion is thought to be unequal meiotic recombination, probably mediated by the highly homologous DNA that flanks the commonly deleted region (<a href="#1" class="mim-tip-reference" title="Baumer, A., Dutly, F., Balmer, D., Riegel, M., Tukel, T., Krajewska-Walasek, M., Schinzel, A. A. <strong>High level of unequal meiotic crossovers at the origin of the 22q11.2 and 7q11.23 deletions.</strong> Hum. Molec. Genet. 7: 887-894, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9536094/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9536094</a>] [<a href="https://doi.org/10.1093/hmg/7.5.887" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9536094">Baumer et al., 1998</a>). <a href="#100" class="mim-tip-reference" title="Osborne, L. R., Li, M., Pober, B., Chitayat, D., Bodurtha, J., Mandel, A., Costa, T., Grebe, T., Cox, S., Tsui, L.-C., Scherer, S. W. <strong>A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.</strong> Nature Genet. 29: 321-325, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11685205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11685205</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11685205[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng753" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11685205">Osborne et al. (2001)</a> used interphase fluorescence in situ hybridization (FISH) and pulsed field gel electrophoresis to identify a genomic polymorphism in families with WBS, consisting of an inversion of the WBS region. They found that the inversion was hemizygous in 3 of 11 (27%) atypical affected individuals who showed a subset of the WBS phenotypic spectrum but did not carry the typical WBS microdeletion. Two of these individuals also had a parent who carried the inversion. In addition, in 4 of 12 (33%) families with a proband carrying the WBS deletion, they observed the inversion exclusively in the parent transmitting the disease-related chromosome. These results suggested the presence of a genomic variant within the population that may be associated with WBS. The variant may result in predisposition to primarily WBS-causing microdeletions, but may also cause translocations and inversions. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11685205+9536094" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#125" class="mim-tip-reference" title="Scherer, S. W., Gripp, K. W., Lucena, J., Nicholson, L., Bonnefont, J.-P., Perez-Jurado, L. A., Osborne, L. R. <strong>Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children.</strong> Hum. Genet. 117: 383-388, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15933846/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15933846</a>] [<a href="https://doi.org/10.1007/s00439-005-1325-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15933846">Scherer et al. (2005)</a> reported 2 sibs with WBS and demonstrated that the 7q11 deletion was paternally inherited in both cases. Although DNA from the father was not available for study, the authors used site-specific nucleotide analysis and dosage comparisons to determine that the father carried the inverted WBS variant chromosome (WBSinv-1) reported by <a href="#100" class="mim-tip-reference" title="Osborne, L. R., Li, M., Pober, B., Chitayat, D., Bodurtha, J., Mandel, A., Costa, T., Grebe, T., Cox, S., Tsui, L.-C., Scherer, S. W. <strong>A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.</strong> Nature Genet. 29: 321-325, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11685205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11685205</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11685205[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng753" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11685205">Osborne et al. (2001)</a>. The inversion of 7q11.23 on one chromosome 7 likely caused misalignment of the WBS region between sister chromatids during meiosis, resulting in deletion and/or duplication of the region during recombination. <a href="#125" class="mim-tip-reference" title="Scherer, S. W., Gripp, K. W., Lucena, J., Nicholson, L., Bonnefont, J.-P., Perez-Jurado, L. A., Osborne, L. R. <strong>Observation of a parental inversion variant in a rare Williams-Beuren syndrome family with two affected children.</strong> Hum. Genet. 117: 383-388, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15933846/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15933846</a>] [<a href="https://doi.org/10.1007/s00439-005-1325-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15933846">Scherer et al. (2005)</a> concluded that presence of the WBSinv-1 variant, which is estimated to occur in 5% of the population, confers an increased risk of WBS in the offspring of carriers. The findings were significant in identifying a potential genetic risk factor for WBS. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15933846+11685205" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Williams-Beuren syndrome represents a model for studying hypertension in a genetically determined disorder. Haploinsufficiency of the elastin gene is known to lead to the vascular stenoses in WBS and is also thought to predispose to hypertension, which is present in approximately 50% of patients. <a href="#25" class="mim-tip-reference" title="Del Campo, M., Antonell, A., Magano, L. F., Munoz, F. J., Flores, R., Bayes, M., Perez Jurado, L. A. <strong>Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension.</strong> Am. J. Hum. Genet. 78: 533-542, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16532385/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16532385</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16532385[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/501073" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16532385">Del Campo et al. (2006)</a> performed detailed clinical and molecular characterization of 96 patients with WBS to explore clinical-molecular correlations. Deletion breakpoints were precisely defined and found to result in variability at 2 genes, NCF1 (<a href="/entry/608512">608512</a>) and GTF2IRD2 (<a href="/entry/608899">608899</a>). Hypertension was significantly less prevalent in patients with WBS who had a deletion that included NCF1 (p = 0.02), a gene encoding the p47(phox) subunit of NADPH oxidase. Decreased levels of the p47(phox) protein, decreased superoxide anion production, and lower protein nitrotyrosination were all observed in cell lines from patients hemizygous at NCF1. The results indicated that the loss of a functional copy of NCF1 protects a proportion of patients with WBS against hypertension, likely through a lifelong reduced angiotensin II (see <a href="/entry/106150">106150</a>)-mediated oxidative stress. <a href="#25" class="mim-tip-reference" title="Del Campo, M., Antonell, A., Magano, L. F., Munoz, F. J., Flores, R., Bayes, M., Perez Jurado, L. A. <strong>Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension.</strong> Am. J. Hum. Genet. 78: 533-542, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16532385/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16532385</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16532385[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/501073" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16532385">Del Campo et al. (2006)</a> speculated that antioxidant therapy that reduces NADPH oxidase activity might have a benefit in identifiable patients with WBS in whom serious complications related to hypertension have been reported, as well as in forms of essential hypertension mediated by a similar pathogenic mechanism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16532385" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#83" class="mim-tip-reference" title="Merla, G., Howald, C., Henrichsen, C. N., Lyle, R., Wyss, C., Zabot, M.-T., Antonarakis, S. E., Reymond, A. <strong>Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes.</strong> Am. J. Hum. Genet. 79: 332-341, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16826523/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16826523</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16826523[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/506371" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16826523">Merla et al. (2006)</a> measured the relative expression level of genes that map within the microdeletion that causes WBS and within its flanking regions. They found, unexpectedly, that not only hemizygous genes but also normal-copy neighboring genes showed decreased relative levels of expression. The results suggested that not only the aneuploid genes but also the flanking genes that map several megabases away from a genomic rearrangement should be considered possible contributors to the phenotypic variation in genomic disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16826523" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#63" class="mim-tip-reference" title="Kaminsky, E. B., Kaul, V., Paschall, J., Church, D. M., Bunke, B., Kunig, D., Moreno-De-Luca, D., Moreno-De-Luca, A., Mulle, J. G., Warren, S. T., Richard, G., Compton, J. G., and 22 others. <strong>An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.</strong> Genet. Med. 13: 777-784, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21844811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21844811</a>] [<a href="https://doi.org/10.1097/GIM.0b013e31822c79f9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21844811">Kaminsky et al. (2011)</a> presented the largest copy number variant case-control study to that time, comprising 15,749 International Standards for Cytogenomic Arrays cases and 10,118 published controls, focusing on recurrent deletions and duplications involving 14 copy number variant regions. Compared with controls, 14 deletions and 7 duplications were significantly overrepresented in cases, providing a clinical diagnosis as pathogenic. The 7q11.23 deletion was identified in 34 cases and no controls for a p value of 8.49 x 10(-8) and a frequency of 1 in 463 cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21844811" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#135" class="mim-tip-reference" title="Strong, E., Butcher, D. T., Singhania, R., Mervis, C. B., Morris, C. A., De Carvalho, D., Weksberg, R., Osborne, L. R. <strong>Symmetrical dose-dependent DNA-methylation profiles in children with deletion or duplication of 7q11.23.</strong> Am. J. Hum. Genet. 97: 216-227, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26166478/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26166478</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26166478[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.05.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26166478">Strong et al. (2015)</a> assessed genomewide DNA methylation in whole blood in 20 children with Williams syndrome, 10 children with dup7 (<a href="/entry/609757">609757</a>), and 15 typically developing children using the Infinium HumanMethylation450 BeadChip array. The authors identified striking differences in DNA methylation across the genome. Notably, regions that were differentially methylated in both Williams syndrome and dup7 displayed a significant and symmetrical gene dose-dependent effect, such that Williams syndrome typically showed increased and Dup7 showed decreased DNA methylation. Differentially methylated genes were significantly enriched with genes in pathways involving neurodevelopment, autism spectrum disorder candidate genes, and imprinted genes. Using alignment with ENCODE data, <a href="#135" class="mim-tip-reference" title="Strong, E., Butcher, D. T., Singhania, R., Mervis, C. B., Morris, C. A., De Carvalho, D., Weksberg, R., Osborne, L. R. <strong>Symmetrical dose-dependent DNA-methylation profiles in children with deletion or duplication of 7q11.23.</strong> Am. J. Hum. Genet. 97: 216-227, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26166478/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26166478</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26166478[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.05.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26166478">Strong et al. (2015)</a> also found the differentially methylated regions to be enriched with CTCF (<a href="/entry/604167">604167</a>) binding sites. The authors found that one of the most differentially methylated genes was the ankyrin repeat domain 30B gene (ANKRD30B; <a href="/entry/616565">616565</a>), which showed striking dose-dependent DNA methylation changes spanning 11 different probes across the promoter. ANKRD30B is found only in primates and is expressed in brain, breasts, and testes. Other genes showing significant dose-dependent DNA methylation included RFPL2 (<a href="/entry/605969">605969</a>) and the protocadherin cluster including PCDHA (<a href="/entry/604966">604966</a>), PCDHB (<a href="/entry/604967">604967</a>), and PCDHG (<a href="/entry/604968">604968</a>). There were changes in DNA methylation outside promoter regions of the RGS2 (<a href="/entry/600861">600861</a>) gene, implicated in anxiety, panic disorder, and schizophrenia. Differential methylation across ANKRD30B, RFPL2, and RGS2 was confirmed by pyrosequencing and real-time PCR analysis. <a href="#135" class="mim-tip-reference" title="Strong, E., Butcher, D. T., Singhania, R., Mervis, C. B., Morris, C. A., De Carvalho, D., Weksberg, R., Osborne, L. R. <strong>Symmetrical dose-dependent DNA-methylation profiles in children with deletion or duplication of 7q11.23.</strong> Am. J. Hum. Genet. 97: 216-227, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26166478/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26166478</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26166478[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.05.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26166478">Strong et al. (2015)</a> also found differential methylation enrichment among autism spectrum disorder genes including HDAC4 (<a href="/entry/605314">605314</a>), SHANK2 (<a href="/entry/603290">603290</a>), DYRK1A (<a href="/entry/600855">600855</a>), SHANK3 (<a href="/entry/606230">606230</a>), NRXN1 (<a href="/entry/600565">600565</a>), CNTNAP2 (<a href="/entry/604569">604569</a>), and ANKRD11 (<a href="/entry/611192">611192</a>). <a href="#135" class="mim-tip-reference" title="Strong, E., Butcher, D. T., Singhania, R., Mervis, C. B., Morris, C. A., De Carvalho, D., Weksberg, R., Osborne, L. R. <strong>Symmetrical dose-dependent DNA-methylation profiles in children with deletion or duplication of 7q11.23.</strong> Am. J. Hum. Genet. 97: 216-227, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26166478/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26166478</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26166478[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.05.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26166478">Strong et al. (2015)</a> concluded that, given the extent of DNA methylation changes and the potential impact on CTCF binding and chromatin regulation, epigenetic mechanisms most likely contribute to the complex neurologic phenotypes of WS and Dup7, and suggested that variation in DNA methylation is important in the pathogenesis of Williams syndrome, dup7, and potentially autism spectrum disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26166478" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Chailangkarn, T., Trujillo, C. A., Freitas, B. C., Hrvoj-Mihic, B., Herai, R. H., Yu, D. X., Brown, T. T., Marchetto, M. C., Bardy, C., McHenry, L., Stefanacci, L., Jarvinen, A., and 16 others. <strong>A human neurodevelopmental model for Williams syndrome.</strong> Nature 536: 338-343, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27509850/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27509850</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27509850[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature19067" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27509850">Chailangkarn et al. (2016)</a> investigated neural progenitor cells and cortical neurons derived from Williams syndrome and typically developing induced pluripotent stem cells. Neural progenitor cells in Williams syndrome have an increased doubling time and apoptosis compared with typically developing neural progenitor cells. By analyzing the deletion in an individual with atypical Williams syndrome reported by <a href="#30" class="mim-tip-reference" title="Edelmann, L., Prosnitz, A., Pardo, S., Bhatt, J., Cohen, N., Lauriat, T., Ouchanov, L., Gonzalez, P. J., Manghi, E. R., Bondy, P., Esquivel, M., Monge, S., Delgado, M. F., Splendore, A., Francke, U., Burton, B. K., McInnes, L. A. <strong>An atypical deletion of the Williams-Beuren syndrome interval implicates genes associated with defective visuospatial processing and autism.</strong> J. Med. Genet. 44: 136-143, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16971481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16971481</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16971481[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1136/jmg.2006.044537" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16971481">Edelmann et al. (2007)</a> and <a href="#24" class="mim-tip-reference" title="Dai, L., Bellugi, U., Chen, X.-N., Pulst-Korenberg, A. M., Jarvinen-Pasley, A., Tirosh-Wagner, T., Eis, P. S., Graham, J., Mills, D., Searcy, Y., Korenberg, J. R. <strong>Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays.</strong> Am. J. Med. Genet. 149A: 302-314, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19205026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19205026</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19205026[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.32652" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19205026">Dai et al. (2009)</a>, <a href="#15" class="mim-tip-reference" title="Chailangkarn, T., Trujillo, C. A., Freitas, B. C., Hrvoj-Mihic, B., Herai, R. H., Yu, D. X., Brown, T. T., Marchetto, M. C., Bardy, C., McHenry, L., Stefanacci, L., Jarvinen, A., and 16 others. <strong>A human neurodevelopmental model for Williams syndrome.</strong> Nature 536: 338-343, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27509850/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27509850</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27509850[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature19067" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27509850">Chailangkarn et al. (2016)</a> narrowed this cellular phenotype to a single gene candidate, frizzled-9 (FZD9; <a href="/entry/601766">601766</a>). At the neuronal stage, layer V/VI cortical neurons derived from Williams syndrome were characterized by longer total dendrites, increased numbers of spines and synapses, aberrant calcium oscillation, and altered network connectivity. Morphometric alterations observed in neurons from Williams syndrome were validated after Golgi staining of postmortem layer V/VI cortical neurons. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=27509850+19205026+16971481" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#26" class="mim-tip-reference" title="del Rio, T., Urban, Z., Csiszar, K., Boyd, C. D. <strong>A gene-dosage PCR method for the detection of elastin gene deletions in patients with Williams syndrome.</strong> Clin. Genet. 54: 129-135, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9761391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9761391</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1998.tb03715.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9761391">Del Rio et al. (1998)</a> reported a gene-dosage octaplex PCR assay using DNA from buccal smears for the rapid detection of elastin gene deletions in Williams syndrome patients. A domain within the promoter region of the elastin gene spanning exons 20-21, and part of exon 36, were amplified. The disomic reference gene chosen was the lysyl oxidase gene (LOX; <a href="/entry/153455">153455</a>), and a domain of LOX was used in preparation of the internal standard. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9761391" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>To investigate why a loss-of-function mutation in 1 elastin allele causes an obstructive arterial disease, supravalvular aortic stenosis, <a href="#72" class="mim-tip-reference" title="Li, D. Y., Faury, G., Taylor, D. G., Davis, E. C., Boyle, W. A., Mecham, R. P., Stenzel, P., Boak, B., Keating, M. T. <strong>Novel arterial pathology in mice and humans hemizygous for elastin.</strong> J. Clin. Invest. 102: 1783-1787, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9819363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9819363</a>] [<a href="https://doi.org/10.1172/JCI4487" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9819363">Li et al. (1998)</a> generated mice hemizygous for the elastin gene (ELN +/-). ELN +/- mice have an expected reduction in ELN mRNA and protein of 50% but nearly normal arterial compliance at physiologic pressures. This discrepancy was explained by a paradoxical increase of 35% in the number of elastic lamellae and smooth muscle in ELN +/- arteries. Examination of humans with ELN hemizygosity revealed a 2.5-fold increase in elastic lamellae and smooth muscle. Thus, ELN hemizygosity in mice and humans induces a compensatory increase in the number of rings of elastic lamellae and smooth muscle during arterial development. Humans are exquisitely sensitive to reduced ELN expression, developing profound arterial thickening and markedly increased risk of obstructive vascular disease. Other factors may contribute to the risk of obstructive arterial disease by reducing ELN expression during development. Hypervitaminosis D, for example, reduces ELN expression in both in vitro and in vivo systems (<a href="#147" class="mim-tip-reference" title="Vijayakumar, S. T., Kurup, P. A. <strong>Hypervitaminosis D and glycosaminoglycan metabolism in rats fed normal and high fat cholesterol diets.</strong> J. Nutr. 104: 423-429, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4274028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4274028</a>] [<a href="https://doi.org/10.1093/jn/104.4.423" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4274028">Vijayakumar and Kurup, 1974</a>; <a href="#53" class="mim-tip-reference" title="Hinek, A., Botney, M. D., Mecham, R. P. <strong>Inhibition of tropoelastin expression by 1,2 dihydroxyvitamin D3.</strong> Connect. Tissue Res. 26: 155-166, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1769236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1769236</a>] [<a href="https://doi.org/10.3109/03008209109152434" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1769236">Hinek et al., 1991</a>). Animal models exposed to hypervitaminosis D gave birth to offspring that developed SVAS (<a href="#38" class="mim-tip-reference" title="Friedman, W. F., Roberts, W. C. <strong>Vitamin D and the supravalvular aortic stenosis syndrome: the transplacental effects of vitamin D on the aorta of the rabbit.</strong> Circulation 34: 77-86, 1966.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5949492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5949492</a>] [<a href="https://doi.org/10.1161/01.cir.34.1.77" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5949492">Friedman and Roberts, 1966</a>; <a href="#16" class="mim-tip-reference" title="Chan, G. M., Buchino, J. J., Mehlhorn, D., Bove, K. E., Steichen, J. J., Tsang, R. C. <strong>Effect of vitamin D on pregnant rabbits and their offspring.</strong> Pediat. Res. 13: 121-126, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/311915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">311915</a>] [<a href="https://doi.org/10.1203/00006450-197902000-00007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="311915">Chan et al., 1979</a>). These findings supported the model of <a href="#72" class="mim-tip-reference" title="Li, D. Y., Faury, G., Taylor, D. G., Davis, E. C., Boyle, W. A., Mecham, R. P., Stenzel, P., Boak, B., Keating, M. T. <strong>Novel arterial pathology in mice and humans hemizygous for elastin.</strong> J. Clin. Invest. 102: 1783-1787, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9819363/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9819363</a>] [<a href="https://doi.org/10.1172/JCI4487" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9819363">Li et al. (1998)</a> of reduced gestational ELN expression resulting in abnormal vascular development and obstructive vascular disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4274028+1769236+5949492+9819363+311915" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#34" class="mim-tip-reference" title="Faury, G., Pezet, M., Knutsen, R. H., Boyle, W. A., Heximer, S. P., McLean, S. E., Minkes, R. K., Blumer, K. J., Kovacs, A., Kelly, D. P., Li, D. Y., Starcher, B., Mecham, R. P. <strong>Developmental adaptation of the mouse cardiovascular system to elastin haploinsufficiency.</strong> J. Clin. Invest. 112: 1419-1428, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14597767/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14597767</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=14597767[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1172/JCI19028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14597767">Faury et al. (2003)</a> reported that mice with haploinsufficiency for elastin were stably hypertensive from birth. They discussed the mechanism by which decreased elastin in vessel walls leads to hypertension. In a commentary, <a href="#23" class="mim-tip-reference" title="D'Armiento, J. <strong>Decreased elastin in vessel walls puts the pressure on. (Commentary)</strong> J. Clin. Invest. 112: 1308-1310, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14597755/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14597755</a>] [<a href="https://doi.org/10.1172/JCI20226" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14597755">D'Armiento (2003)</a> provided an illustration of how hemodynamic forces resulting from altered matrix structure influence vascular development. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14597755+14597767" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Dogs display exaggerated gregariousness, referred to as hypersociability. <a href="#150" class="mim-tip-reference" title="vonHoldt, B. M., Shuldiner, E., Koch, I. J., Kartzinel, R. Y., Hogan, A., Brubaker, L., Wanser, S., Stahler, D., Wynne, C. D. L., Ostrander, E. A., Sinsheimer, J. S., Udell, M. A. R. <strong>Structural variants in genes associated with human Williams-Beuren syndrome underlie stereotypical hypersociability in domestic dogs.</strong> Sci. Adv. 3: e1700398, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28776031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28776031</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28776031[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/sciadv.1700398" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28776031">VonHoldt et al. (2017)</a> examined genomic DNA in blood samples collected from domestic dogs and from wolves that had been hand-reared into adulthood by humans. They found that dogs, but not wolves, showed elevated structural variations in a region of canine chromosome 6 that corresponds to the WBS region of human chromosome 7. These variants appeared to contribute to extreme sociability in dogs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28776031" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#89" class="mim-tip-reference" title="Miles, J. H., Michalski, K. A. <strong>Familial 15q12 duplication associated with Williams phenotype. (Abstract)</strong> Am. J. Hum. Genet. 35: 144A, 1983."None>Miles and Michalski (1983)</a> found duplication of 15q11.2-q13.1 in a boy judged to satisfy the clinical criteria for Williams syndrome. The father, who had the same duplication, had postnatal growth retardation, height at the 2% level at age 12, and bone age consistent with the chronologic age of 12. <a href="#64" class="mim-tip-reference" title="Kaplan, L. C., Wharton, R., Elias, E., Mandell, F., Donlon, T., Latt, S. A. <strong>Clinical heterogeneity associated with deletions in the long arm of chromosome 15: report of 3 new cases and their possible genetic significance.</strong> Am. J. Med. Genet. 28: 45-53, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3674117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3674117</a>] [<a href="https://doi.org/10.1002/ajmg.1320280107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3674117">Kaplan et al. (1987)</a> reported apparent deletion in 15q11-q12 in a child with typical Williams syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3674117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#59" class="mim-tip-reference" title="Jefferson, R. D., Burn, J., Gaunt, K. L., Hunter, S., Davison, E. V. <strong>A terminal deletion of the long arm of chromosome 4 [46,XX,del(4)(q33)] in an infant with phenotypic features of Williams syndrome.</strong> J. Med. Genet. 23: 474-477, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3783627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3783627</a>] [<a href="https://doi.org/10.1136/jmg.23.5.474" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3783627">Jefferson et al. (1986)</a> described a terminal deletion of the long arm of chromosome 4, 46,XX,del(4)(q33), in a female infant with peripheral pulmonary artery stenosis, growth retardation, and physiognomic features consistent with Williams syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3783627" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Bzduch, V., Lukacova, M. <strong>Interstitial deletion of the long arm of chromosome 6(q22.2q23) in a boy with phenotypic features of Williams syndrome. (Letter)</strong> Clin. Genet. 35: 230-231, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2706804/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2706804</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1989.tb02932.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2706804">Bzduch and Lukacova (1989)</a> found features of Williams syndrome in a boy with an interstitial deletion of the long arm of chromosome 6 involving band q22.2-q23. The boy had supravalvular aortic stenosis and also coarctation of the aorta which was repaired surgically. He was short of stature and had microcephaly, long philtrum, and dental anomalies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2706804" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 2.5-year-old girl thought to have Williams syndrome, <a href="#19" class="mim-tip-reference" title="Colley, A., Thakker, Y., Ward, H., Donnai, D. <strong>Unbalanced 13;18 translocation and Williams syndrome.</strong> J. Med. Genet. 29: 63-65, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1552549/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1552549</a>] [<a href="https://doi.org/10.1136/jmg.29.1.63" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1552549">Colley et al. (1992)</a> described a de novo 13;18 unbalanced translocation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1552549" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#141" class="mim-tip-reference" title="Tupler, R., Maraschio, P., Gerardo, A., Mainieri, R., Lanzi, G., Tiepolo, L. <strong>A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33-q35.1.</strong> J. Med. Genet. 29: 253-255, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1583646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1583646</a>] [<a href="https://doi.org/10.1136/jmg.29.4.253" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1583646">Tupler et al. (1992)</a> described a girl with severe abnormalities, many of which were consistent with Williams syndrome, in association with an unbalanced complex chromosome rearrangement involving 10 breakpoints and resulting in 4 derivative chromosomes, nos. 1, 2, 4, and 11. The patient was monosomic for the region 4q33-q35.1. <a href="#141" class="mim-tip-reference" title="Tupler, R., Maraschio, P., Gerardo, A., Mainieri, R., Lanzi, G., Tiepolo, L. <strong>A complex chromosome rearrangement with 10 breakpoints: tentative assignment of the locus for Williams syndrome to 4q33-q35.1.</strong> J. Med. Genet. 29: 253-255, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1583646/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1583646</a>] [<a href="https://doi.org/10.1136/jmg.29.4.253" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1583646">Tupler et al. (1992)</a> suggested that the gene for Williams syndrome is located in this region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1583646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Feigl1980" class="mim-tip-reference" title="Feigl, A., Feigl, D., Yahini, J. H., Deutsch, V., Neufeld, H. N. <strong>Supravalvular aortic and peripheral pulmonary arterial stenoses: a report of eight cases in two generations.</strong> Isr. J. Med. Sci. 16: 496-502, 1980.">Feigl et al. (1980)</a>; <a href="#Garcia1964" class="mim-tip-reference" title="Garcia, R. E., Friedman, W. F., Kaback, M. M., Rowe, R. D. <strong>Idiopathic hypercalcemia and supravalvular aortic stenosis: documentation of a new syndrome.</strong> New Eng. J. Med. 271: 117-120, 1964.">Garcia et al. (1964)</a>; <a href="#Ino1985" class="mim-tip-reference" title="Ino, T., Nishimoto, K., Iwahara, M., Akimoto, K., Tokita, A., Kaneko, K., Yabuta, K. <strong>Progressive vascular lesions in Williams syndrome. (Letter)</strong> J. Pediat. 107: 826, 1985.">Ino et al. (1985)</a>; <a href="#Martin1984" class="mim-tip-reference" title="Martin, N. D. T., Snodgrass, G. J. A. I., Cohen, R. D. <strong>Idiopathic infantile hypercalcaemia--a continuing enigma.</strong> Arch. Dis. Child. 59: 605-613, 1984.">Martin
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et al. (1984)</a>; <a href="#Monaco1996" class="mim-tip-reference" title="Monaco, A. P. <strong>Human genetics: dissecting Williams syndrome.</strong> Curr. Biol. 6: 1396-1398, 1996.">Monaco (1996)</a>; <a href="#Preus1984" class="mim-tip-reference" title="Preus, M. <strong>The Williams syndrome: objective definition and diagnosis.</strong> Clin. Genet. 25: 422-428, 1984.">Preus (1984)</a>; <a href="#Reiss1985" class="mim-tip-reference" title="Reiss, A. L., Feinstein, C., Rosenbaum, K. N., Borengasser-Caruso, M. A., Goldsmith, B. M. <strong>Autism associated with Williams syndrome.</strong> J. Pediat. 106: 247-249, 1985.">Reiss et al. (1985)</a>; <a href="#Rowe1963" class="mim-tip-reference" title="Rowe, R. D. <strong>Maternal rubella and pulmonary artery stenoses: report of eleven cases.</strong> Pediatrics 32: 180-185, 1963.">Rowe
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(1963)</a>; <a href="#Vogt1980" class="mim-tip-reference" title="Vogt, J., Rupprath, G., Grimm, T. <strong>Qualitative (sic) und quantitative (sic) Untersuchungen bei supravalvularer Aortenstenose durch zweidimensionale Echokardiographie (Eine Studie ueber 45 Patienten).</strong> Z. Kardiol. 69: 70-73, 1980.">Vogt et al. (1980)</a>; <a href="#Wesselhoeft1980" class="mim-tip-reference" title="Wesselhoeft, H., Salomon, F., Grimm, T. <strong>Spektrum der supravalvulaeren Aortenstenose: Untersuchungsergebnisse bei 150 Patienten mit Williams-Beuren-Syndrom und der isolierten Form der supravalvulaeren Aortenstenose.</strong> Z. Kardiol. 69: 131-140, 1980.">Wesselhoeft et al. (1980)</a>
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<strong>REFERENCES</strong>
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[<a href="https://doi.org/10.1093/hmg/7.5.887" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1161/01.cir.26.6.1235" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320280119" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.32.9.692" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/adc.74.1.59" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(sici)1096-8628(19990423)83:5<356::aid-ajmg2>3.0.co;2-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.23.5.389" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1989.tb02932.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI32556" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(sici)1096-8628(19970303)69:1<107::aid-ajmg21>3.0.co;2-s" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1203/00006450-197902000-00007" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.30400" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/501073" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1998.tb03715.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320470409" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1006/geno.1996.0469" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1006/mgme.1999.2844" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320470408" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/1096-8628(20010201)98:4<324::aid-ajmg1103>3.0.co;2-5" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1067/mpd.2002.127280" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1994.tb04218.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320460306" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1056/NEJMra0903074" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1984.tb02012.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1984.tb02011.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.51.1.33" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(85)80296-1" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s004310100835" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320390108" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1067/mpd.2001.118889" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1006/geno.2000.6312" target="_blank">Full Text</a>]
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Ada Hamosh - updated : 05/09/2019
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Patricia A. Hartz - updated : 09/18/2017<br>Ada Hamosh - updated : 10/05/2015<br>Cassandra L. Kniffin - updated : 3/23/2015<br>Ada Hamosh - updated : 10/4/2012<br>Cassandra L. Kniffin - updated : 7/9/2012<br>Cassandra L. Kniffin - updated : 3/24/2011<br>Cassandra L. Kniffin - updated : 4/15/2010<br>Cassandra L. Kniffin - updated : 3/9/2010<br>Cassandra L. Kniffin - updated : 2/4/2010<br>Marla J. F. O'Neill - updated : 1/22/2010<br>Marla J. F. O'Neill - updated : 12/29/2009<br>Cassandra L. Kniffin - updated : 12/15/2008<br>Cassandra L. Kniffin - updated : 8/11/2008<br>Cassandra L. Kniffin - updated : 3/13/2008<br>Cassandra L. Kniffin - updated : 2/27/2007<br>Victor A. McKusick - updated : 7/10/2006<br>Victor A. McKusick - updated : 6/5/2006<br>Siobhan M. Dolan - updated : 4/20/2006<br>Cassandra L. Kniffin - updated : 4/6/2006<br>Victor A. McKusick - updated : 3/15/2006<br>Victor A. McKusick - updated : 12/5/2005<br>Cassandra L. Kniffin - updated : 10/4/2005<br>George E. Tiller - updated : 9/30/2005<br>Cassandra L. Kniffin - updated : 9/7/2005<br>Marla J. F. O'Neill - updated : 7/28/2005<br>Cassandra L. Kniffin - updated : 4/1/2005<br>Cassandra L. Kniffin - updated : 3/1/2005<br>Victor A. McKusick - updated : 1/3/2005<br>Natalie E. Krasikov - updated : 7/6/2004<br>Victor A. McKusick - updated : 5/10/2004<br>Cassandra L. Kniffin - updated : 11/3/2003<br>Victor A. McKusick - updated : 6/26/2003<br>Victor A. McKusick - updated : 6/25/2003<br>Michael B. Petersen - updated : 2/11/2003<br>Michael J. Wright - updated : 10/22/2002<br>Victor A. McKusick - updated : 8/29/2002<br>Cassandra L. Kniffin - updated : 6/3/2002<br>Ada Hamosh - updated : 1/30/2002<br>Ada Hamosh - updated : 1/25/2002<br>Victor A. McKusick - updated : 12/21/2001<br>Victor A. McKusick - updated : 11/1/2001<br>Sonja A. Rasmussen - updated : 3/13/2001<br>Michael J. Wright - updated : 5/5/2000<br>Victor A. McKusick - updated : 2/1/2000<br>Sonja A. Rasmussen - updated : 12/1/1999<br>Victor A. McKusick - updated : 11/16/1999<br>Victor A. McKusick - updated : 9/1/1999<br>Orest Hurko - updated : 7/1/1999<br>Michael J. Wright - updated : 6/18/1999<br>Victor A. McKusick - updated : 4/22/1999<br>Ada Hamosh - updated : 2/18/1999<br>Victor A. McKusick - updated : 1/20/1999<br>Sheryl A. Jankowski - updated : 1/15/1999<br>Victor A. McKusick - updated : 12/10/1998<br>Victor A. McKusick - updated : 12/1/1998<br>Victor A. McKusick - updated : 9/8/1998<br>Victor A. McKusick - updated : 2/20/1998<br>Michael J. Wright - updated : 12/18/1997<br>Victor A. McKusick - updated : 5/16/1997<br>Victor A. McKusick - updated : 3/6/1997<br>Victor A. McKusick - updated : 2/6/1997<br>Moyra Smith - updated : 1/24/1997<br>Moyra Smith - updated : 1/3/1997<br>Moyra Smith - updated : 10/21/1996<br>Iosif W. Lurie - updated : 9/19/1996<br>Iosif W. Lurie - updated : 9/14/1996<br>Iosif W. Lurie - updated : 9/12/1996<br>Iosif W. Lurie - updated : 8/20/1996<br>Iosif W. Lurie - updated : 8/10/1996<br>Orest Hurko - updated : 4/1/1996
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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carol : 09/04/2024
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carol : 10/12/2020<br>alopez : 05/09/2019<br>alopez : 07/02/2018<br>alopez : 09/18/2017<br>carol : 09/08/2016<br>carol : 09/07/2016<br>alopez : 10/05/2015<br>alopez : 3/24/2015<br>mcolton : 3/23/2015<br>ckniffin : 3/23/2015<br>carol : 2/17/2015<br>carol : 2/13/2015<br>mgross : 4/10/2014<br>tpirozzi : 7/12/2013<br>alopez : 6/10/2013<br>alopez : 10/4/2012<br>terry : 8/17/2012<br>alopez : 7/11/2012<br>ckniffin : 7/9/2012<br>terry : 9/28/2011<br>terry : 5/24/2011<br>wwang : 5/4/2011<br>ckniffin : 4/18/2011<br>ckniffin : 3/24/2011<br>wwang : 2/9/2011<br>ckniffin : 2/8/2011<br>terry : 10/12/2010<br>terry : 9/8/2010<br>terry : 9/1/2010<br>carol : 8/10/2010<br>carol : 8/10/2010<br>alopez : 6/10/2010<br>terry : 5/12/2010<br>wwang : 4/29/2010<br>ckniffin : 4/15/2010<br>wwang : 4/7/2010<br>ckniffin : 3/9/2010<br>wwang : 2/18/2010<br>ckniffin : 2/4/2010<br>wwang : 1/25/2010<br>terry : 1/22/2010<br>wwang : 1/15/2010<br>terry : 12/29/2009<br>terry : 4/9/2009<br>wwang : 3/31/2009<br>carol : 2/10/2009<br>carol : 1/13/2009<br>wwang : 12/22/2008<br>ckniffin : 12/15/2008<br>terry : 9/25/2008<br>wwang : 8/21/2008<br>ckniffin : 8/11/2008<br>carol : 6/5/2008<br>wwang : 5/15/2008<br>ckniffin : 3/13/2008<br>terry : 12/17/2007<br>ckniffin : 9/10/2007<br>carol : 8/31/2007<br>wwang : 3/2/2007<br>ckniffin : 2/27/2007<br>terry : 11/3/2006<br>alopez : 7/18/2006<br>terry : 7/10/2006<br>alopez : 6/8/2006<br>terry : 6/5/2006<br>carol : 4/24/2006<br>terry : 4/20/2006<br>wwang : 4/11/2006<br>ckniffin : 4/6/2006<br>alopez : 3/20/2006<br>terry : 3/15/2006<br>alopez : 1/31/2006<br>alopez : 12/7/2005<br>terry : 12/5/2005<br>wwang : 11/17/2005<br>wwang : 10/6/2005<br>carol : 10/6/2005<br>ckniffin : 10/4/2005<br>alopez : 9/30/2005<br>wwang : 9/28/2005<br>ckniffin : 9/7/2005<br>terry : 7/28/2005<br>wwang : 4/18/2005<br>ckniffin : 4/1/2005<br>wwang : 3/8/2005<br>ckniffin : 3/1/2005<br>tkritzer : 1/13/2005<br>terry : 1/3/2005<br>carol : 7/7/2004<br>terry : 7/6/2004<br>carol : 6/15/2004<br>ckniffin : 6/15/2004<br>tkritzer : 5/26/2004<br>terry : 5/10/2004<br>tkritzer : 11/18/2003<br>ckniffin : 11/3/2003<br>mgross : 9/18/2003<br>tkritzer : 8/1/2003<br>tkritzer : 7/17/2003<br>terry : 6/26/2003<br>carol : 6/26/2003<br>terry : 6/25/2003<br>cwells : 2/11/2003<br>tkritzer : 10/30/2002<br>tkritzer : 10/23/2002<br>terry : 10/22/2002<br>alopez : 10/2/2002<br>tkritzer : 9/5/2002<br>tkritzer : 9/3/2002<br>terry : 8/29/2002<br>carol : 6/3/2002<br>ckniffin : 6/3/2002<br>terry : 3/5/2002<br>alopez : 1/31/2002<br>terry : 1/30/2002<br>terry : 1/25/2002<br>cwells : 1/10/2002<br>cwells : 1/2/2002<br>terry : 12/21/2001<br>alopez : 11/5/2001<br>alopez : 11/2/2001<br>alopez : 11/2/2001<br>terry : 11/1/2001<br>carol : 4/12/2001<br>mcapotos : 3/15/2001<br>mcapotos : 3/13/2001<br>alopez : 5/5/2000<br>carol : 2/14/2000<br>carol : 2/1/2000<br>terry : 2/1/2000<br>mgross : 12/1/1999<br>mgross : 11/18/1999<br>terry : 11/16/1999<br>jlewis : 9/23/1999<br>terry : 9/1/1999<br>mgross : 7/7/1999<br>mgross : 7/2/1999<br>kayiaros : 7/1/1999<br>terry : 6/18/1999<br>alopez : 5/3/1999<br>terry : 4/22/1999<br>alopez : 2/18/1999<br>carol : 1/20/1999<br>psherman : 1/15/1999<br>terry : 12/10/1998<br>carol : 12/2/1998<br>terry : 12/1/1998<br>alopez : 9/9/1998<br>carol : 9/8/1998<br>carol : 4/21/1998<br>alopez : 2/26/1998<br>alopez : 2/20/1998<br>terry : 2/20/1998<br>alopez : 1/15/1998<br>terry : 12/18/1997<br>mark : 9/11/1997<br>mark : 7/8/1997<br>mark : 5/16/1997<br>terry : 5/12/1997<br>jenny : 3/6/1997<br>terry : 2/12/1997<br>terry : 2/6/1997<br>terry : 2/3/1997<br>mark : 1/25/1997<br>terry : 1/24/1997<br>mark : 1/24/1997<br>mark : 1/3/1997<br>terry : 1/2/1997<br>mark : 10/21/1996<br>mark : 10/21/1996<br>terry : 10/7/1996<br>carol : 9/19/1996<br>carol : 9/14/1996<br>carol : 9/12/1996<br>carol : 8/23/1996<br>carol : 8/20/1996<br>carol : 8/10/1996<br>mark : 6/27/1996<br>terry : 6/25/1996<br>terry : 6/20/1996<br>mark : 4/19/1996<br>terry : 4/11/1996<br>mark : 4/2/1996<br>mark : 4/1/1996<br>terry : 4/1/1996<br>terry : 3/23/1996<br>mark : 10/22/1995<br>terry : 10/6/1995<br>mimadm : 6/7/1995<br>carol : 2/27/1995<br>warfield : 3/29/1994<br>carol : 11/29/1993
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<strong>#</strong> 194050
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WILLIAMS-BEUREN SYNDROME; WBS
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CHROMOSOME 7q11.23 DELETION SYNDROME, 1.5- TO 1.8-MB<br />
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WILLIAMS SYNDROME; WMS; WS
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<strong>SNOMEDCT:</strong> 63247009;
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<strong>ICD10CM:</strong> Q93.82;
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<strong>ORPHA:</strong> 904;
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<strong>DO:</strong> 1928;
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Cytogenetic location: 7q11.23
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<strong>Gene-Phenotype Relationships</strong>
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Inheritance
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7q11.23
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Williams-Beuren syndrome
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194050
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Autosomal dominant
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<span class="mim-font">
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4
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because Williams-Beuren syndrome (WBS) is a contiguous gene deletion syndrome resulting from the hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23.</p><p>For a discussion of the genes deleted in this syndrome and possible genotype/phenotype correlations, see below.</p>
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<p>Williams-Beuren syndrome (WBS) is a multisystem disorder caused by hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23, which contains approximately 28 genes. Pober (2010) reviewed the clinical features of Williams-Beuren syndrome as well as the genomic and genetic basis and clinical management. </p><p>See also the distal chromosome 7q11.23 deletion syndrome (613729), which occurs between the WBS region and the MAGI2 gene (606382).</p>
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<strong>Clinical Features</strong>
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<p>Williams et al. (1961) described a syndrome characterized by supravalvular aortic stenosis (SVAS), mental retardation, and distinctive facial features. Beuren et al. (1962) described a similar syndrome with the additional features of dental anomalies and peripheral pulmonary artery stenosis. Two features of the syndrome had been described as distinct entities: supravalvular aortic stenosis (Sissman et al., 1959) and infantile hypercalcemia (Fanconi et al., 1952). Black and Bonham-Carter (1963) pointed out the similarity of the facial features described in these reports to those described by Williams et al. (1961) and Beuren et al. (1962). </p><p>Grimm and Wesselhoeft (1980) suggested that full-blown Williams syndrome includes supravalvular aortic stenosis, multiple peripheral pulmonary arterial stenoses, 'elfin face,' mental and statural deficiency, characteristic dental malformation, and infantile hypercalcemia. In a series of cases ascertained through supravalvular aortic stenosis, they found patients with mental retardation without 'elfin facies' and patients with 'elfin facies' who were mentally normal. Beuren (1972) presented compelling evidence that supravalvular aortic stenosis and idiopathic infantile hypercalcemia are part of the same disorder. </p><p>Among 19 patients with the Williams syndrome not ascertained through a cardiologic hospital, Jones and Smith (1975) found 6 without supravalvular aortic stenosis, peripheral pulmonary stenosis, or hypoplastic aorta. Oppenheimer (1938) reported a 17-month-old child with pulmonary artery stenosis and calcification of the aorta and pulmonary artery; this may have been an early case. </p><p>White et al. (1977) described second cousins with the characteristic facies and mental retardation but no documented hypercalcemia and no cardiovascular abnormality. </p><p>Preus (1984), in 2 companion articles, used numerical taxonomy (Preus, 1980) to sharpen the definition of the Williams syndrome and used the diagnostic index so derived in the differential diagnosis of the Williams and Noonan syndromes. </p><p>Burn (1986) reviewed the features of Williams syndrome and suggested that the term 'elfin facies' be dropped. He described the characteristic facial features as broad forehead, medial eyebrow flare, periorbital fullness, strabismus, stellate iris pattern, flat nasal bridge, malar flattening, full cheeks and lips, a long smooth philtrum, a pointed chin, and a wide mouth. The face becomes more coarse with age. </p><p>Preus (1975) pointed out that the iris pattern, described by her as 'lacey' and by others as 'stellate,' can be a useful diagnostic clue in infants. Holmstrom et al. (1990) had 3 ophthalmologists and 4 geneticists examine eye photographs from 43 children with Williams syndrome and 124 control subjects. A stellate pattern was noted in the irides of 51% of the Williams syndrome patients and in 12% of the control subjects. The pattern was more difficult to detect or was absent in heavily pigmented irides. Hotta et al. (1990) reported on the iris pattern in 3 cases. Winter et al. (1996) assessed the frequency and severity of ophthalmologic features in 152 patients with Williams-Beuren syndrome. Eighty-two (54%) had strabismus, while 149 had esotropia. Blue irides were present in 117 (77%), green irides in 10 (7%), and brown irides in 25 (16%). A typical stellate iris pattern of the anterior stroma was found in 112 (74%). Whitish anomalies were also detected in brown irides. Retinal vascular tortuosity was found in 22% of patients with funduscopy. Two 9-year-old patients and a 46-year-old patient had initial cataract. No ocular manifestations of hypercalcemia were noted. </p><p>Pankau et al. (1992) analyzed the statural growth in 165 patients (75 girls and 90 boys). Intrauterine growth retardation was present in 35% of the girls and 22% of the boys. Poor growth was noted during the first 2 years of life. Until age 9 years in girls and 11 years in boys, mean growth followed the 3rd percentile. A pubertal growth spurt with normal growth rate was seen at age 10 years in girls and 13 years in boys, i.e., 1 to 2 years earlier than normal. Menarche also occurred earlier than normal. Mean adult height was 153.9 +/- 6.9 cm in 17 girls and 168.2 +/- 6.9 cm in 27 boys, approximately corresponding to the 3rd percentile in both sexes. The mean deficit of adult height compared to target height was 10.2 cm in girls and 9.1 cm in boys. Skeletal development progressed at an approximately normal rate in both sexes. </p><p>Pankau et al. (1993) conducted a retrospective study of 119 patients with Williams syndrome. Results showed limitation of supination at the elbow with radioulnar synostosis in 9 patients. One patient had bilateral radioulnar synostosis. Pankau et al. (1993) suggested that radioulnar synostosis should be considered a common manifestation of the syndrome. </p><p>Patients with Williams syndrome are often described as having a harsh, brassy, or hoarse voice (Gosch et al., 1994). Stewart et al. (1993) described a patient with bilateral vocal cord paralysis, developing at the age of 9 years, which required tracheostomy. Takamatsu (1996) studied 18 cases of bilateral vocal cord paralysis in children, including 1 patient with WS. Vaux et al. (2003) described 2 WS patients who had bilateral vocal cord abnormalities (1 of whom required tracheostomy because of bilateral vocal cord paralysis), bringing to 4 the number of children with WS in whom such defects had been documented. They suggested that vocal cord abnormalities may be a far more common feature of WS than previously suspected, and that mild vocal cord dysfunction caused by abnormal vocal cord elastin may be the cause of the hoarse voice in this condition. </p><p>Narin et al. (1993) reported an 8-year-old boy with Williams syndrome who had subvalvular aortic stenosis--seemingly the first report of subvalvular location of obstruction in this disorder. Wollack et al. (1996) described a 19-year-old girl with Williams syndrome who developed an ischemic stroke of the internal capsule and putamen but who was not found to have stenotic lesion on angiography. They reviewed 5 other cases of stroke in Williams syndrome. </p><p>Cortada et al. (1980) reported the disorder in mother and both twin daughters, presumably dizygotic. One twin had supravalvular and valvular aortic stenosis. The other twin had mild peripheral pulmonary stenosis and mild coarctation of the left pulmonary artery. One twin, who died during cardiac surgery, and the mother had mitral valve prolapse. Intelligence was normal. A stellate pattern of the irides was present in both twins. All 3 had pectus excavatum, hypoplastic nails, and hallux valgus. Murphy et al. (1990) added 2 sets of concordantly affected monozygotic twins to the 2 previously reported sets. To the 5 sets of monozygotic twins with WMS previously reported, Pankau et al. (1993) added a pair concordant for the disorder but showing variable expression. Both had typical facial appearance, developmental delay, mild supravalvular aortic stenosis, hypoplasia of both pulmonary arteries, multiple peripheral pulmonary stenoses, and inguinal hernia. One twin had unilateral renal agenesis. A presumably separate disorder was cleft palate in both twins; the father, grandfather, and great-grandfather all had cleft lip with or without cleft palate. </p><p>To the 6 pairs of previously reported monozygotic twins with Williams syndrome, Castorina et al. (1997) added 2 further sets. Monozygosity was confirmed by DNA microsatellite analysis and the clinical diagnosis was confirmed by FISH using a WS-specific probe. Analysis of concordance was assisted by a long follow-up. Most clinical signs were concordant in the twins of each pair, with differences present at younger ages, mainly minor facial anomalies, being attenuated with time. Developmental delay was substantially concordant. Inguinal hernia was present in a single twin in 1 pair. Facial anomalies and other signs attributable to connective tissue abnormalities were also displayed by only 1 twin in both sets, suggesting that the WS genotype has only a predisposing role in the development of these signs. </p><p>Biesecker et al. (1987) described a 19-year-old patient with Williams syndrome who had renal cystic dysplasia and gradual deterioration of renal function, with recurrent episodes of dehydration secondary to a concentrating defect. They suggested that this is a more frequent complication than previously realized. In studies of 40 persons with Williams syndrome who were assessed at an average age of about 7 years, Pober et al. (1993) found renal abnormalities in 7: nephrocalcinosis in 2, marked asymmetry in kidney size in 2, small kidneys in 1, solitary kidney in 1, and pelvic kidney in 1. Renal artery stenosis was sought in 9 persons who underwent abdominal angiography during cardiac catheterization. Unilateral or bilateral mild renal artery narrowing was found in 4 persons and normal renal arteries in the remaining 5. Persistent hypertension was found in only 2 individuals and did not correlate with renal artery status. </p><p>Knudtzon et al. (1987) described 2 brothers with Williams syndrome who did not have hypercalcemia. One boy died during the first month of life. His brother developed severe microcephaly and cataract and died at the age of 9 years. The skeleton was osteosclerotic at birth and became osteoporotic by the age of 2 years. This brother had persistently elevated 1,25-dihydroxyvitamin D levels during the first 2 years of life, in spite of normocalcemia. At autopsy, microcalcifications were found in the brain and kidneys. Maisuls et al. (1987) described 2 patients with Williams syndrome and severe mitral regurgitation requiring surgical treatment at ages 8 and 11. Another patient had coarctation of the abdominal aorta. Hallidie-Smith and Karas (1988) described the cardiologic findings in 66 patients with the Williams-Beuren syndrome; systemic hypertension was present in 7.8% of the patients, mitral valve prolapse by clinical and echocardiographic criteria in 15%, and bicuspid aortic valve in 11.6%. </p><p>Morris et al. (1988) reviewed the natural history of Williams syndrome. After delayed growth in the first 4 years of life, catch-up growth occurred with the ultimate attainment of low-normal adult height. Older children developed progressive joint limitation and hypertonia. Hypertension was frequent in adulthood, being present in 8 of 17 adults. Morris et al. (1988) referred to the Williams Syndrome National Association, which was a source of patients for review. Morris et al. (1990) evaluated 13 adults with Williams syndrome and reviewed the case reports of 16 patients older than 16 years. Hypercalcemia may persist into adulthood. Hypertension was common. Recurrent urinary tract infections led to studies that showed urethral stenosis in some patients and bladder diverticula and vesicoureteral reflux in others. Gastrointestinal problems included chronic constipation and diverticulosis. </p><p>In 10 adults with Williams syndrome, Lopez-Rangel et al. (1992) found supravalvular aortic stenosis in 4, mitral valve prolapse in 3, bicuspid aortic valve in 1, valvular aortic stenosis in 1, and pulmonary stenosis with right ventricular hypertrophy in 1. Mental retardation was seen in all patients. Verbal skills were better developed than motor skills. All patients led active lives and most were involved in sports. Some held supervised jobs. Conway et al. (1990) reported 3 children, aged 8 years, 16 years, and 59 months, who died suddenly with myocardial ischemia following cardiac catheterization. In addition to supravalvular aortic stenosis, all showed stenosis of the left coronary artery and its branches and regions of recent and/or remote myocardial infarction. Voit et al. (1991) pointed to clinical and morphologic evidence of myopathy in this syndrome giving rise to hypotonia in infancy, delayed walking, joint contractures, scoliosis, and increased exhaustion on exertion. </p><p>Wessel et al. (1994) reported results of follow-up cardiologic examination of 59 patients with Williams syndrome. Supravalvular aortic stenosis was found in 57 patients, 17 of whom underwent surgery because of severe stenosis. Aortic hypoplasia was diagnosed in 24 patients, peripheral pulmonary stenosis in 49, and coarctation of the aorta in 4. If patients with SVAS had a pressure gradient of less than 20 mm Hg in infancy, their gradient remained unchanged for the next 20 years. If patients with SVAS had a pressure gradient of more than 20 mm Hg in infancy, their gradient increased in later life. Four of 6 patients with aortic hypoplasia and surgery for SVAS developed restenosis, whereas patients without aortic hypoplasia remained free of restenosis. </p><p>Greenberg (1990) expressed the opinion that no well-documented cases of parent-to-child transmission of classic Williams syndrome have been reported.</p><p>In 3 unrelated families, Morris et al. (1993) described Williams syndrome in parent and child: father and son in 1 family and mother and daughter in the other 2. None of the patients had supravalvular aortic stenosis or chromosomal abnormalities. In all 3 families, the parent was diagnosed after identification of the syndrome in the affected child. Sadler et al. (1993) reported Williams syndrome in mother and son. Ounap et al. (1998) reported WBS in mother and son. The diagnosis was confirmed in the son by molecular cytogenetic analysis using FISH; the mother was deceased and was thus not studied by FISH. Two traits uncommon in WBS were unilateral renal hypoplasia in the mother and a hemivertebra at L5 in the son. </p><p>Kaplan et al. (1995) pointed out that stenoses in the cerebral arteries can cause strokes with brain damage and chronic hemiparesis in children with Williams syndrome. Increased irritability, loss of consciousness, and seizures were initial signs in 2 patients. One patient, aged 22 years, had episodes of cerebral vascular insufficiency beginning at the age of 3 years at which time moyamoya was diagnosed. </p><p>Scothorn and Butler (1997) reported the case of a girl with Williams syndrome who had onset of puberty at 7.5 years of age and menarche at 8.5 years of age. They suggested that because intellectual and emotional development of children with this disorder are delayed, pharmacologic and hormonal intervention to delay puberty may be warranted to allow for intellectual and emotional maturation. </p><p>Partsch et al. (2002) reported a mean age of menarche of 11.5 +/- 1.7 years in 86 females with Williams syndrome compared with 12.9 +/- 1.1 years in a contemporary cohort of 759 girls. They estimated the prevalence of precocious puberty in Williams syndrome as 1 in 5 to 6 girls (18.3%). </p><p>Broder et al. (1999) confirmed previous findings of hypertension in Williams syndrome. They studied blood pressure using 24-hour ambulatory BP monitoring in 20 WS subjects and found that they had significantly higher ambulatory blood pressures than controls. The diagnosis of WS added approximately 10 mm Hg to mean daytime and nighttime BPs. Hypertension, defined by elevated mean daytime BP, was present in 40% of WS patients versus 14% of controls; among the children studied, this difference was even more dramatic, with 46% of WS children versus 6% of control children classified as hypertensive. Parental reporting of a history of infantile hypercalcemia was strongly associated with the presence of hypertension. </p><p>Since the elastin protein is a major component of elastic fibers in the dermis of the skin, Dridi et al. (1999) evaluated elastic fibers in the dermis of 10 Williams syndrome patients, all of whom were shown by FISH to have 7q11.23 deletions. Patients with Williams syndrome showed disorganized pre-elastic and mature elastic fibers when compared with 5 healthy children and 1 patient with isolated supravalvular aortic stenosis. The authors concluded that skin biopsies may provide a simple means to elucidate the extracellular matrix anomalies associated with Williams syndrome. </p><p>Kozel et al. (2014) specifically evaluated the dermatologic features of 94 WBS patients ranging from 7 to 50 years of age. Compared to the general population, WBS patients had higher incidences of soft skin (83%), premature graying of the hair (80% of those 20 years or older), wrinkles (92%), and abnormal scarring (33%). Biomechanical studies showed that patients had statistically significant differences in the pressure required to lift the skin, the time required to raise the skin through a prescribed gradient, viscoelasticity, and skin displacement parameters compared to controls, all consistent with easier stretching and decreased stiffness of WBS skin. The differences in skin elasticity observed in WBS patients did not correlate with the presence of vascular defects, suggesting the presence of tissue-specific modifiers that modulate the impact of elastin insufficiency resulting from haploinsufficiency of the elastin gene (ELN; 130160). </p><p>Sadler et al. (2001) did a retrospective analysis of the incidence and severity of cardiovascular disease in Williams syndrome in 127 patients. The prevalence of SVAS was 44 (35%) of 127. Statistical analysis revealed that the severity of both SVAS and total cardiovascular disease was significantly greater in male than female patients. Sadler et al. (2001) also observed that the clinical diagnosis of WS was made at a significantly younger age in male patients and that this was partly because of increased incidence and severity of cardiovascular disease. Rose et al. (2001) followed 112 patients with WS since 1975 and studied 25 of them by aortography. Twenty of 25 patients had vascular stenosis, of whom 19 were affected by segmental narrowing either of the thoracic aorta (9) or the abdominal aorta (7) or both (3). Hypoplasia of the abdominal aorta was characterized by the smallest diameters at the renal artery level and an increased diameter of the infrarenal abdominal aorta. Eleven patients had renal artery stenosis associated with narrowing of other aortic segments in 10 cases. Of 17 patients with hypertension, 2 had no vascular lesions; and in the remaining 15 patients, stenosis was present in more than 1 segment. Rose et al. (2001) concluded that hypertension is a common symptom and must be regarded as a manifestation of generalized arteriopathy rather than renal hypoperfusion. </p><p>Giannotti et al. (2001) reported a study of celiac disease (212750) in 63 Italian WS patients. The dosage of antigliadin antibodies and antiendomisium antibodies was analyzed, and 6 patients positive for these antibodies underwent small bowel biopsy. Celiac disease was present in 6 (9.5%) WS patients, compared with 1 of 184 (0.54%) Italian children (p less than 0.001). Giannotti et al. (2001) suggested screening for celiac disease in patients with WS. </p><p>In a retrospective study of 75 patients with WS, Eronen et al. (2002) found that cardiovascular symptoms were evident in 35 patients (47%) at birth. The most common abnormalities were SVAS (73%) and pulmonary artery stenosis (41%). Arterial hypertension was found in 55% of adults. </p><p>In a study of the natural history of Williams syndrome, Cherniske et al. (2004) performed multisystem assessment of 20 affected adults over 30 years of age and documented a high frequency of problems in multiple organ systems. The most consistent and striking findings were: abnormal body habitus; mild to moderate high-frequency sensorineural hearing loss; cardiovascular disease and hypertension; gastrointestinal symptoms, including diverticular disease; diabetes and abnormal glucose tolerance on standard oral glucose tolerance testing; subclinical hypothyroidism; decreased bone mineral density on dual energy x-ray absorptiometry (DEXA) scanning; and a high frequency of psychiatric symptoms, most notably anxiety, often requiring multimodal therapy. Brain MRI scans did not demonstrate consistent pathology. The adults were not living independently and the great majority were not competitively employed. One of the patients reported by Cherniske et al. (2004) had hypercalcemia, indicating that this feature is not restricted to infancy. Most of the adults had premature graying of the hair starting as early as 16 years of age, a finding that had been reported by Morris et al. (1988). This feature, together with an earlier than expected onset of cataracts and high-frequency sensorineural hearing loss, suggested mild accelerated aging, which may additionally complicate the long-term course of older adults with WS. </p><p>Marler et al. (2005) studied auditory system function in 27 Williams syndrome patients aged 6 to 48 years. They found sensorineural hearing loss in 14 of 18 patients aged 21 or younger. The degree of hearing loss was greater in adults than in children, suggesting early-onset, progressive hearing loss. </p><p>Gothelf et al. (2006) found that 41 (84%) of 49 patients with Williams syndrome had moderate to severe hyperacusis beginning in infancy. The most frequent sounds of daily life to which the children were sensitive included electric machines, thunder, bursting balloons, and fireworks. The children responded with marked fear and exhibited aversive behaviors. Hyperacusis peaked at age 5.7 years and tended to decrease somewhat thereafter. Quantitative testing of 21 of these patients revealed discomfort at sound intensities on average 20 dB lower than control individuals. Pure-tone audiometry and distortion product otoacoustic emission tests revealed high-frequency cochlear hearing loss. An absence of ipsilateral acoustic reflex responses to maximum stimulation was also observed. On brain auditory evoked response (BAER) testing, patients with Williams syndrome had a significant prolongation in wave I latency. Gothelf et al. (2006) noted that hearing loss in Williams syndrome resembled the configuration of noise-induced hearing loss and suggested that hyperacusis and hearing loss in Williams syndrome resulted from a deficiency in the normally protective acoustic reflex as a result of auditory nerve dysfunction. </p><p>Game et al. (2010) emphasized the urinary abnormalities in patients with WBS, including urinary frequency, urgency, nocturia, bladder diverticula, structural renal anomalies, and recurrent urinary tract infections. The authors noted that urodynamic testing has suggested evidence of detrusor overactivity and detrusor-sphincter dyssynergia in patients with WBS. </p><p><strong><em>Neurodevelopmental Features</em></strong></p><p>
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Ewart et al. (1993) commented that the IQ in patients with Williams syndrome varies from 20 to 106 (mean = 58). Specific cognitive deficits include poor visual-motor integration. As a result, affected individuals have problems visualizing a complete picture but instead see only the parts. Affected individuals also suffer from attention deficit disorder. Language development, by contrast, is relatively spared and some elements of speech may be enhanced, particularly the quantity and quality of vocabulary, auditory memory, and social use of language. Many patients sing or play musical instruments with considerable expertise and they rarely forget a name. Because of their engaging personalities, language skills, and loquaciousness, mental retardation is often underestimated in children with Williams syndrome. Gosch and Pankau (1996) used 2 methods to examine the cognitive abilities of 18 affected children (9 girls and 9 boys) with a mean age of 6.6 years at year one (T1) and approximately 2 years later (T2). The Draw A Person Test showed stable results (mean IQ of 63.5 at T1 and 65 at T2). The Columbia Mental Maturity Scale revealed a significant decrease of IQ (mean IQ of 77 at T1 and 68 at T2). Gosch and Pankau (1996) contended that this change represented a decrease of developmental rate of special abilities such as the application of classifications. </p><p>Plissart et al. (1994) studied the psychologic and behavioral characteristics of 11 adult Belgian patients, aged 17 to 66 years. Mental retardation in all patients was moderate or severe. Verbal skills were superior to visuospatial and motor abilities. The most frequent behavioral problems were poor concentration, attention-seeking behavior, and restlessness. The behavioral and emotional disturbances typical for children with Williams syndrome persisted into adulthood. Most patients achieved a good level of autonomy, with the majority living at home with parents and attending a day center. </p><p>Lenhoff et al. (1997) described the remarkable musical and verbal abilities of individuals with Williams syndrome, who perform poorly on standard IQ tests. They usually read and write poorly and struggle with simple arithmetic, but display a facility not only for spoken language but also for recognizing faces. As a group, they tend to be empathetic, loquacious, and sociable. Lenhoff et al. (1997) presented pictures, suggesting that children with Williams syndrome were an inspiration for pixie legends, and pointed out that the 'wee, magical people' of assorted folktales were often musicians and storytellers. </p><p>Gosch and Pankau (1994) compared behavioral characteristics in 19 children with Williams syndrome, aged 4 to 10 years, to those in a control group matched for age, gender, and nonverbal reasoning abilities. The children with Williams syndrome were more unreserved with and more willing to follow strangers, hypersensitive to sounds, and less socially adjusted than the control children. </p><p>Mervis et al. (1999) discussed the subject of visuospatial constructive abilities in persons with normal intelligence and in persons with Williams syndrome or small deletions in the Williams syndrome region. They reviewed behavioral genetic studies of visuospatial constructive ability, which suggested that a substantial portion of the individual differences found among people of normal intelligence has a genetic basis. </p><p>The behavioral phenotype in Williams syndrome suggests a dorsal and/or ventral developmental dissociation, with defects in dorsal but not the ventral hemispheric visual stream. A shortened extent of the dorsal central sulcus had been observed in autopsy specimens. Galaburda et al. (2001) compared gross anatomic features between the dorsal and ventral portions of the cerebral hemispheres by examining the dorsal extent of the central sulcus in MRI images from 21 subjects with WMS and age- and sex-matched control subjects. They found that the dorsal central sulcus was less likely to reach the interhemispheric fissure in subjects with WMS than in controls for both right and left hemispheres. No differences between the groups were found in the ventral extent of the central sulcus. They concluded that early neurodevelopmental problems affect the development of the dorsal forebrain and are probably related to the deficits in visuospatial ability and behavioral timing often observed in Williams syndrome. </p><p>Schmitt et al. (2001) performed brain MRI on 20 patients with Williams syndrome to determine how cerebral shape differs from that of normal controls. In Williams syndrome, both cerebral hemispheres and the corpus callosum bend to a lesser degree in the sagittal plane, which the authors believed to be due to variation in the parietooccipital region. In addition, the cerebral hemispheres and corpus callosum midline lengths were decreased in Williams syndrome. Schmitt et al. (2001) suggested that the brain findings are consistent with aberrant premature termination of brain development, which proceeds normally in the rostrocaudal direction. </p><p>Lenhoff et al. (2001) evaluated 5 patients with Williams syndrome for absolute musical pitch (AP; see 159300), which is the ability to recognize, name, and reproduce the pitch of a musical note without reference. The 5 patients had a mean IQ of 58 but were able to read musical notation. They began to play music at ages 5, 7, 8, 10, and 11 years, respectively. As a group, the 5 patients scored 97.5% on 1,084 absolute pitch trials, indicating that they possessed exceptional abilities in absolute pitch. By comparison, cognitively intact musicians who claim to have AP scored 84.3% on similar tests. Lenhoff et al. (2001) suggested that the prevalence of AP in individuals with Williams syndrome is higher than that in the general Western population (1 in 10,000) and noted that the age window of AP acquisition in Williams syndrome appears to be extended compared to the general population. Hickok et al. (1995) reported that brain imaging of patients with Williams syndrome suggested an exaggerated left-right asymmetry of the planum temporale, which had also been found in musicians with absolute pitch (Schlaug et al., 1995), suggesting a neuroanatomical correlate to the ability. </p><p>Patients with Williams syndrome have relatively good abilities in face recognition and discrimination. Using functional MRI to assess facial recognition, Mobbs et al. (2004) found that 11 patients with WS showed increased activation in the right fusiform gyrus and several frontal and temporal regions, including subcortical structures. By contrast, control individuals showed greater activation in the primary and secondary visual cortices. The findings suggested that patients with WS have impairments in the visual cortical regions and use frontal and temporal regions as a compensatory mechanism. </p><p>Primate visual cortex is organized into 2 functionally specialized, hierarchically organized processing pathways: a ventral stream for object processing and a dorsal stream for spatial processing. Patients with Williams syndrome show a visuospatial constructive deficit, which is an inability to visualize an object as a set of parts or to construct a replica. Using multimodal neuroimaging techniques, Meyer-Lindenberg et al. (2004) found that 13 high-functioning individuals with WS showed significant hypoactivation in dorsal stream areas during different visual tasks compared to controls. No differences were found in the ventral stream. Structural imaging studies showed that individuals with WS had gray matter volume reduction in the parietooccipital/intraparietal sulcus, immediately adjacent to the region of hypofunction, suggesting a structural-functional connection. </p><p>Meyer-Lindenberg et al. (2005) used multimodal neuroimaging to characterize hippocampal structure, function, and metabolic integrity in 12 normal-intelligence patients with Williams syndrome and 12 age-, sex-, and IQ-matched healthy controls. PET and functional MRI studies showed profound reduction in resting blood flow and absent differential response to visual stimuli in the anterior hippocampal formation in patients with Williams syndrome. Spectroscopic measures of N-acetylaspartate, a marker of synaptic activity, were reduced. Hippocampal size was preserved, but subtle alterations in shape were present. Meyer-Lindenberg et al. (2005) suggested that hippocampal dysfunction might contribute to neurocognitive abnormalities in Williams syndrome. </p><p>Castelo-Branco et al. (2007) presented evidence of a neural defect in the retina of WBS patients. High-resolution imaging techniques found that WBS patients had decreased retinal thickness, abnormal optic disc concavity, and impaired visual responses compared to controls. Low-level magnocellular performance was independent of deficits in the integration of information at higher levels. </p><p>Marenco et al. (2007) performed brain diffusion tensor MRI to assess white matter integrity in 5 high-functioning WBS patients. Patients showed significant differences in white matter tissue organization compared to controls, particularly with respect to alterations in the main orientation of fibers underlying abnormalities in the gray matter. There appeared to be an increase in anterior-posterior longitudinal fibers and a reduction in right-to-left transverse axis fibers in the patients, consistent with the finding of other midline defects, such as dysgenesis of the corpus callosum. Marenco et al. (2007) hypothesized that there is specific alteration in the development of U fibers in the later stages of neuronal migration in patients with WBS and suggested that these abnormal patterns result from deletions of genes within the critical region. </p><p><strong><em>Atypical Williams-Beuren Syndrome</em></strong></p><p>
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Morimoto et al. (2003) reported a Japanese male with a severe form of WBS associated with craniosynostosis and refractory infantile seizures. At age 5 months, he was diagnosed with peripheral pulmonary stenosis and mild ventricular hypertrophy. The seizures responded to ACTH, which had to be discontinued due to progression of the cardiac hypertrophy. EEG showed a variant of hypsarrhythmia. He also had an elfin face, failure-to-thrive, severe developmental delay, and dental malformation, in addition to congenital heart defects. FISH showed deletion of the elastin gene, and high-resolution chromosome analysis revealed interstitial deletion of 7q11.22-q11.23, consistent with Williams syndrome. At 2 years, his seizures were controlled, but his psychomotor development was severely delayed. Treatment with thyrotropin-releasing hormone (TRH) offered improvement in seizure control. Marshall et al. (2008) noted that seizures are not common in WBS. Using high resolution mapping to reexamine the patient reported by Morimoto et al. (2003), Marshall et al. (2008) found that the deletion was 4.4-Mb in length and extended telomeric to the classic WBS region. The deletion included the YWHAG gene (605356) but did not include the MAGI2 gene (606382); see the distal 7q11.23 deletion syndrome (613729). </p><p>Tassabehji et al. (2005) identified an atypical Williams-Beuren syndrome individual with a smaller genetic deletion relative to classic Williams-Beuren syndrome cases but including 2 extratelomeric genes, CYLN2 (603432) and GTF2IRD1 (604318). The patient was a 4.5-year-old girl with surgically corrected pulmonary artery stenosis. Her birth weight and growth appeared normal, and at 4.5 years her height was just above the 50th centile. Facial features were suggestive of but not classic for Williams-Beuren syndrome. Early developmental milestones such as sitting and walking were within normal limits; however, by 18 months she had a vocabulary of only a few single words and by age 4 she continued to show a delay in language acquisition as well as serious deficits in spatial cognition, but to a lesser degree than that seen in Williams-Beuren syndrome patients. </p>
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<p>In a study of patients with Williams syndrome, Rae et al. (1998) found a correlation between performance on neuropsychologic tests and decreases in the amount of neocerebellar N-acetylaspartate when normalized to choline or creatine. They speculated that this could either reflect a global decrease of this neuronal marker in the entire brain, or perhaps evidence of cerebellar involvement. </p><p>Grimm and Wesselhoeft (1980) pointed out that supravalvular aortic stenosis has been described as a rare feature of the Marfan syndrome and occurs as a phenocopy of the genetic disorder induced by rubella embryopathy (Varghese et al., 1969), by experimental vitamin (Jorgensen, 1972). Taylor et al. (1982) investigated the effects of pharmacologic doses of vitamin D2 given for 4 days to normal children and to children with Williams disease and their sibs. The results indicated an exaggerated increase in serum 25-OH-D in response to challenge with vitamin D in patients with the Williams syndrome and in some of their sibs with no clinical features of the syndrome. Despite the increases in serum 25-OH-D, none of the patients became hypercalcemic. Garabedian et al. (1985) found high plasma concentrations of 1,25-(OH)2D in 4 children with hypercalcemia and 'elfin facies.' The levels were higher than in 3 children with 'elfin facies' but without hypercalcemia or dysmorphia. In Williams syndrome, a low calcium diet controlled the hypercalcemia. They suggested that an abnormal synthesis or degradation of 1,25-(OH)2D is present in this syndrome. Others (e.g., Martin et al., 1985) questioned this work. From a study of calcium metabolism in 27 normocalcemic children and adults, aged 2 to 47 years, with WBS, Kruse et al. (1992) concluded that neither deficient calcitonin secretion nor increased renal sensitivity to parathyroid hormone is a feature in normocalcemic patients. Furthermore, they did not find a significant disturbance in vitamin D metabolism. </p><p>Cherniske et al. (2004) reported studies of 20 adults with Williams syndrome (age range 30 to 51 years) in which they observed a 25% prevalence of elevation of serum thyroid-stimulating hormone (TSH; see 188540) concentration. Stagi et al. (2005) analyzed thyroid function and morphology in another 20 patients with Williams syndrome (age range 1.7 to 34.9 years). They likewise found that 25% of the patients showed a TSH elevation; they related this finding to the hypoplasia of the thyroid gland which was evident in about 70% of their patients. Selicorni et al. (2006) reported the results of a morphologic and functional study of the thyroid gland in 95 patients with WS, who periodically underwent a complete survey to detect early complications related to the condition. The study confirmed the increased incidence of both elevated TSH serum values (37.9%) and thyroid gland hypoplasia (74.7%). Moreover, they demonstrated that TSH elevation declined with age. </p>
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<p>Grimm and Wesselhoeft (1980) estimated the frequency of Williams syndrome to be 1 in 10,000. </p><p>Stromme et al. (2002) estimated that the Williams-Beuren syndrome occurs at a frequency of approximately 1 in 7,500 live births, with approximately two-thirds of the deletion events being intrachromosomal. </p>
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<strong>Clinical Management</strong>
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<p>The Committee on Genetics American Academy of Pediatrics (2001) published a set of guidelines to assist in the health care supervision of children with Williams syndrome. </p>
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<strong>Cytogenetics</strong>
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<p>Osborne (1999) reviewed Williams-Beuren syndrome, including the phenotype and the genes that have been identified as mapping within the WBS common deletion. They discussed the mechanism of deletion and the correlation between extent of deletion and phenotype. </p><p>Perez Jurado et al. (1996) investigated the deletion size and frequency on chromosome 7q11.23, determined the parental origin, and correlated the molecular results with the clinical findings in 65 patients with Williams syndrome. They carried out genotyping of WS patients and available parents for 13 polymorphisms and determined that 94% of patients had a deletion of the ELN (130160) locus. Analysis of polymorphic markers suggested that the commonly deleted region extended from D7S489B through D7S1870. The D7S489B locus was deleted in all informative patients. No variability in the size of the deletion was detected in the WS patients by genotyping of polymorphic markers. The investigators were able to visualize the common deletion in WS, estimated to be 1.5-2.5 Mb. The D7S489B locus constitutes a lower-copy repeat with at least 2 copies which map close to the WS deletion breakpoints. Perez Jurado et al. (1996) proposed that these repeats may provide a mechanism for aberrant recombination or replication events. All 4 patients with normal dosage at the ELN locus had biparental inheritance at all informative loci tested. Perez Jurado et al. (1996) noted that clinical reevaluation of these 4 patients was consistent with a diagnosis of WS based on the presence, during some period of development, of characteristic facial features, mental retardation, and strongly suggestive cognitive and personality profiles. They noted that 3 of the 4 patients were above the 50th centile for height and head circumference. None of them had hypercalcemia or vascular stenoses. Perez Jurado et al. (1996) reported that in 39 families informative for parental origin, all deletions were de novo and 18 were paternally and 21 maternally derived. They noted that comparison of clinical data collected in a standardized quantifiable format revealed more severe growth retardation and microcephaly in the maternal deletion group. Perez Jurado et al. (1996) proposed that an imprinted locus, silent on the paternal chromosome and contributing to statural growth, may be affected by the deletion. </p><p>Dutly and Schinzel (1996) carried out molecular genetic studies in 15 families with WBS. They demonstrated deletion of the ELN gene in all of the probands. The 15 families consisting of patients, parents, and paternal or maternal grandparents were genotyped using microsatellites adjacent to the centromeric or telomeric end of ELN. They demonstrated that in 10 out of 15 WBS families (67%) with a de novo deletion within 7q11.23, the segment flanking the deleted region contained recombined haplotypes. These recombination events indicated that deletion was the result of an unequal crossing-over event between the chromosome 7 homologs during gametogenesis. In 5 of the 15 families there was no recombination on either side of the deletion. Dutly and Schinzel (1996) postulated that in these families there may be intrachromosomal recombination. They noted that unequal recombination events are mediated by related gene sequences or repetitive elements and that the elastin gene has relatively large introns characterized by repetitive elements. Frangiskakis et al. (1996) reported that breakpoints in the LIM kinase-1 gene (LIMK1; 601329), which is adjacent to ELN, occur within Alu repeats. Dutly and Schinzel (1996) concluded that a practical consequence of their findings is improved prediction of recurrence risks for sibs of a WBS-affected proband since a recombination event around the deleted segment indicates meiotic recombination which is unlikely to recur. </p><p>Pankau et al. (2001) reported 2 families in which girls had inherited Williams-Beuren syndrome from their mothers. In all 4 patients the clinical diagnosis was supported by the molecular cytogenetic detection of a hemizygous deletion at 7q11.23. Considerable variation in the clinical manifestations of the syndrome within and between these families was noted. </p><p><strong><em>Deletion at the ELN Gene Locus</em></strong></p><p>
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Loss of an ELN (130160) allele produces the cardiovascular pathology of Williams-Beuren syndrome (review by Pober, 2010). </p><p>In studies in 4 familial and 5 sporadic cases of Williams syndrome, Ewart et al. (1993) identified hemizygosity at the elastin locus (ELN) resulting from deletion. Loss of heterozygosity for DNA markers was the first clue; fluorescence in situ hybridization and quantitative Southern analysis confirmed this finding. The neurobehavioral features of Williams syndrome described earlier are not easily explained by hemizygosity at the ELN locus. The linkage and physical mapping data of Ewart et al. (1993) suggested that the deletions associated with Williams syndrome extend beyond the ELN (130160) locus, spanning at least 114 kb. </p><p>Taking advantage of a large series (27 cases) of sporadic Williams syndrome, Gilbert-Dussardier et al. (1995) explored the potential application of novel microsatellite DNA markers in the rapid detection of hemizygosity in WBS. They found that a highly informative marker at locus D7S1870 could detect failure of parental inheritance in almost 75% of cases in their series. </p><p>Nickerson et al. (1995) investigated the frequency of deletions of the ELN gene in patients with Williams syndrome using both fluorescence in situ hybridization (FISH) and PCR amplification of a dinucleotide repeat polymorphism. In 40 of the 44 patients tested (91%), FISH demonstrated deletion of the ELN gene. Using the DNA polymorphism, both maternally (39%) and paternally (61%), derived deletions were found. Thus, FISH analysis proved a rapid and informative test to confirm a clinical diagnosis of Williams syndrome. However, the presence of 2 copies of the ELN locus in a patient does not rule out the diagnosis. </p><p>In a series of 235 patients, Lowery et al. (1995) identified molecular cytogenetic deletions by FISH in 96% of patients with classic WBS. Patients included 195 solicited through the Williams Syndrome Association, plus 40 clinical cytogenetics cases referred by primary-care physicians. On the basis of photographs and medical records of most subjects from the Association, 114 of the patients were identified as 'classic' and 39 'uncertain.' Whereas 96% of the classic WMS subjects showed deletion, only 3 of 39 of the uncertain patients showed a deletion. Of the 42 who were not classified phenotypically, because of lack of clinical information, 25 patients (60%) showed a deletion. In 15 of 40 (38%) of clinical cytogenetics cases, they found an ELN deletion and no cytogenetic deletion by banded analysis. Results supported the usefulness of FISH for the detection of elastin deletions as an initial diagnostic assay for WMS. </p><p>Mari et al. (1995) used an intragenic RFLP and gene dosage of the elastin gene with a new probe to analyze 60 sporadic cases with the clinical diagnosis of Williams syndrome. Deletion of the ELN gene was shown in 54 cases; clinical reevaluation of the 6 patients without demonstrable deletion did not confirm the diagnosis of WBS. The results supported the genetic homogeneity of WBS and the high accuracy of ELN molecular analysis. By using FISH as a diagnostic tool, Borg et al. (1995) demonstrated hemizygosity at the ELN locus in all 5 cases considered to be classic Williams syndrome and in 3 of 5 atypical cases. Prominence of the thyroid cartilage and thinning of the cheeks (with loss of jowls) occurred with advancing age. A friendly disposition was found in all patients with the microdeletion, but the degree of loquacity decreased as the severity of mental retardation increased. Hyperacusis was also a constant feature. Hypercalcemia was documented in only 2 of the patients with submicroscopic microdeletion but surprisingly was documented in both patients lacking the chromosomal abnormality. By FISH, Brewer et al. (1996) found hemizygosity for an ELN gene probe in all of 16 children in adolescence with a firm clinical diagnosis of Williams syndrome. </p><p><strong><em>Deletion of the RFC2 Gene</em></strong></p><p>
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Peoples et al. (1996) reported that the RFC2 (600404) gene product was deleted in 18 of 18 patients with Williams syndrome. Deletion of RFC2 was demonstrated by analysis of somatic cell hybrids in which the normal and the Williams causing chromosome from a particular patient were separated. RFC2 deletion was also demonstrated by FISH. They noted that the 40-kD protein product encoded by RFC2 is one of 5 subunits of the replication factor C complex. They postulated that deletion of RFC2 subunits may lead to reduced efficiency of DNA replication, which could account for growth deficiency as well as developmental disturbances. </p><p><strong><em>Deletion of the LIMK1 Gene</em></strong></p><p>
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Tassabehji et al. (1996) found that in addition to the ELN gene (130160), the gene that encodes LIM kinase (LIMK1; 601329) is deleted in Williams syndrome. To identify genes important for human cognitive development, Frangiskakis et al. (1996) studied Williams syndrome patients who show poor visuospatial constructive cognition. They described 2 families with a partial WS phenotype; affected members had the specific WS cognitive profile and vascular disease, but lacked other WS features. Submicroscopic 7q11.23 deletions cosegregated with the phenotype in both families. DNA sequence analyses of the region affected by the smallest deletion (83.6 kb) revealed both the ELN gene and the LIMK1 gene. The latter is strongly expressed in the brain. Because ELN mutations cause vascular disease but not cognitive abnormalities, Frangiskakis et al. (1996) suggested that LIMK1 hemizygosity is implicated in the impaired visuospatial constructive cognition of Williams syndrome. </p><p><strong><em>Deletion of the GTF2IRD1/GTF2I Gene Cluster</em></strong></p><p>
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Tassabehji et al. (2005) identified an atypical WBS individual with a smaller genetic deletion relative to classic WBS cases but including 2 extratelomeric genes, CYLN2 (603432) and GTF2IRD1 (604318). The patient showed milder facial dysmorphism and cognitive deficits than those seen in classic WBS cases. Studies in mouse showed that homozygous loss of Gtf2ird1 results in craniofacial abnormalities reminiscent of those seen in WBS, together with growth retardation and neurologic abnormalities. Taken together, these observations implicated GTF2IRD1 in mammalian craniofacial and cognitive development. Tassabehji et al. (2005) suggested that cumulative dosage of TFII-I family genes explains the main phenotypes of WBS; Gtf2ird1-null mice and classic WBS individuals have 2 functioning copies (in trans and cis, respectively), whereas the atypical patient had 3 functioning genes of the GTF2IRD1/GTF2I (601679) cluster and showed milder WBS phenotypes. Edelmann et al. (2007) reported a 6.5-year-old girl with autism (209850) who also had the cognitive-behavioral profile associated with WBS, including severely impaired visuospatial processing and friendly personality despite impaired social interaction. However, she did not have other classic medical or physical features of WBS. Molecular studies detected a large de novo heterozygous 2.4 to 3.1-kb deletion that overlapped slightly with the distal end of the WBS critical region, including the GTF2IRD1, GTF2I, and about 15 other genes. Edelmann et al. (2007) suggested that the findings implicated hemizygosity for GTF2IRD1 and GTF2I in the visuospatial construction deficit characteristic of WBS. </p><p>Collette et al. (2009) used quantitative RT-PCR to determine the transcriptional level of 14 WBS markers in a cohort of 77 WBS patients and 48 controls, and observed that the parental origin of the deletion contributes to the level of expression of GTF2I independently of age and gender, with significantly lower expression when the single remaining copy is located on the paternally derived chromosome (p = 0.0002). Correlation of expression of GTF2I and some other genes in the WBS region differed between WBS patients and controls, pointing to a regulatory role for the GTF2I gene. </p><p><strong><em>Deletion of the FKBP6 Gene</em></strong></p><p>
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Metcalfe et al. (2005) described a Bulgarian father and son with WBS detected by fluorescence in situ hybridization (with an elastin gene probe) and loss of heterozygosity mapping using microsatellite markers located in the critical region. The father and son appeared to have a common WBS heterozygous deletion, confirming the expected dominant transmission and adding to the few familial cases reported. The deletion included the FKBP6 gene (604839) which has been shown to play a role in homologous chromosome pairing in meiosis and male fertility in mouse models. </p><p><strong><em>Delineation of the WBS Critical Region</em></strong></p><p>
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Urban et al. (1996) analyzed 7q deletions in 31 sporadic WS cases. Patients and family members were genotyped for 3 ELN gene markers. These included a tetranucleotide repeat polymorphism within the first intron of elastin, a CA-repeat polymorphism within intron 18, and an RmaI RFLP within exon 20 of the ELN gene. In addition, 6 dinucleotide repeat polymorphic markers were analyzed. Urban et al. (1996) used genotype data to generate haplotypes. They reported that the ELN gene markers detected hemizygosity in 25 informative Williams syndrome patients. One D7S1870 allele was deleted in 27 informative WS patients. Another distal locus (D7S849) was hemizygous in 4 of the 31 patients. This finding led Urban et al. (1996) to conclude that size heterogeneity of the Williams region exists. Their mapping and haplotype studies indicated that a large portion of genomic DNA distal to the ELN gene is missing in most WS patients with supravalvular aortic stenosis. Their results were consistent with deletions spanning 0.9 to 2.5 Mb, and they concluded that these deletions may involve several genes, suggesting that WS is a contiguous gene syndrome. Urban et al. (1996) reported that WS patients in all of the 12 families analyzed by them were not only deleted for at least 1 marker in the ELN region but also had apparent recombination between proximal and distal markers flanking the deletion. In contrast, homologous chromosomes in the same WS patients did not show any recombination event. Urban et al. (1996) concluded that these data implicated meiotic recombination as the underlying mechanism of the deletion associated with WS. </p><p>Osborne et al. (1996) constructed a physical map of a 500-kb region in 7q11.23 that they determined to be deleted in a collection of 30 WBS patients. This region, which extends 35 kb 5-prime and 430 kb 3-prime of the ELN gene, contains 9 transcription units, including the ELN, LIMK1, RFC2, and WSCR1 (603431) genes. </p><p>Wu et al. (1998) defined the minimal critical deletion region on 7q in 63 WMS patients, using 10 microsatellite markers and 5 fluorescence in situ hybridization probes flanking the ELN gene. These studies showed deletions of consistent size. In all informative cases deleted at ELN, the deletion extended from D7S489U to D7S1870. The genetic distance between these 2 markers is about 2 cM. Of the 51 informative patients with deletions, 29 were maternal and 22 were paternal in origin. There was no evidence for effects on stature by examining gender, ethnicity, cardiac status, or parental origin of the deletion. Heteroduplex analysis for the LIMK1 gene did not show any mutations in patients with WMS in this series who did not have deletions at ELN. On the other hand, LIMK1 deletions were found in all elastin-deletion patients who had WMS. One patient, who had isolated supravalvular aortic stenosis and an elastin deletion, did not have a deletion at LIMK1. </p><p>Meng et al. (1998) undertook to identify genes involved in the contiguous gene deletion syndrome of Williams that explained phenotypic features. Hemizygosity of elastin (ELN; 130160) had been shown to be responsible for supravalvular aortic stenosis, and hemizygosity for LIM-kinase 1 (LIMK1; 601329) had been implicated as contributing factor to impaired visual-spatial constructive cognition in Williams syndrome. Additional genes were sought to account for other features such as mental retardation, infantile hypercalcemia, and unique personality profile. They presented a physical mapping encompassing 1.5 Mb DNA that is commonly deleted in individuals with WS. Three novel genes were identified in the common deletion region: TBL2 (605842), BCL7B (605846), and WBSCR14 (605678). </p><p>Botta et al. (1999) described 2 patients with the full Williams syndrome phenotype who carried deletions from the ELN gene to marker D7S1870. This region excludes the candidate genes STX1A (186590) and FZD9 (601766), and defines a region estimated to be less than 1 Mb. </p><p>Wu et al. (1999) reported a child with typical features of Williams syndrome, including supravalvular aortic stenosis, short stature, hypercalcemia, facial dysmorphism, and stellate irides. In addition, severe mental retardation with little speech, macrocephaly, and retinal changes not seen in Williams syndrome were present. The child had a cytogenetically visible deletion extending from D7S849 to beyond D7S440 telomeric of D7S1870. Wu et al. (1999) also demonstrated that the deletion included the CACNL2A gene (114204) and suggested that the patient might be susceptible to malignant hyperthermia (see 154276). </p><p>Duba et al. (2002) investigated a family with a cytogenetically balanced translocation t(7;16)(q11.23;q13) in which the 5 translocation carriers manifested a wide variation in phenotype, ranging from a hoarse voice as the only feature, partial WBS with or without SVAS, to the full WBS phenotype. DNA sequence analysis showed that the breakpoint on chromosome 7 was within intron 5 of the ELN gene and on chromosome 16 within intron 1 of the GPR56 gene (604110). In the course of the rearrangement, no basepair was lost from either the chromosome 7 or chromosome 16 sequences. The chromosomal breakpoints in the 5 translocation carriers were identical, and FISH analysis of the WBS critical region indicated that no predisposing inversion of the WBS region had occurred prior to the translocation. Duba et al. (2002) speculated that the expected phenotype in the reported family would be SVAS, not WBS, and proposed a long-range position effect caused by the translocation event as the most likely explanation. </p><p>Kara-Mostefa et al. (1999) reported an instance of recurrent WBS in 2 sibs with deletions on the maternally inherited haploidentical chromosome. The authors interpreted this as suggesting a premeiotic intrachromosomal event leading to gonadal mosaicism in the mother. </p><p>Valero et al. (2000) found that 3 large region-specific segmental duplication or low copy repeat elements (centromeric, medial, and telomeric LCRs), each composed of 3 differentiated blocks designated A, B, and C, flank the WBS common deletion region. Bayes et al. (2003) determined the exact deletion size and LCR copy number in 74 patients with WBS, as well as precisely defined deletion breakpoints in 30 of them, using LCR-specific nucleotide differences. Most patients (95%) exhibited a 1.55-Mb deletion caused by recombination between centromeric and medial block B copies, which share approximately 99.6% sequence identity along 105 to 143 kb. In these cases, deletion breakpoints were mapped at several sites within the recombinant block B, with a cluster (more than 27%) occurring at a 12-kb region within the GTF2I gene (601679). Almost one-third (28%) of the transmitting progenitors were found to be heterozygous for an inversion between centromeric and telomeric LCRs. All deletion breakpoints in the patients with the inversion occurred in the distal 38-kb block B region only present in the telomeric and medial copies. Only 4 patients (5%) displayed a large deletion (approximately 1.84 Mb) caused by recombination between centromeric and medial block A copies. Bayes et al. (2003) proposed models for the specific pairing and precise aberrant recombination leading to each of the different germline rearrangements that occur in this region, including inversions and deletions associated with WBS. Chromosomal instability at 7q11.23 is directly related to the genomic structure of the region. </p>
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<h4>
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<strong>Genotype/Phenotype Correlations</strong>
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<p>Wang et al. (1999) analyzed 85 confirmed cases of 7q11.23 deletion and Williams-Beuren syndrome. Deletion of this region is responsible for 90 to 95% of all clinically typical cases. No statistically significant associations were found between clinical features and deletion size, inherited ELN and LIMK1 alleles, gender, and parental origin of the deletion. The data did not support the presence of imprinted genes in the WBS common deletion, despite a nonsignificant excess of maternal over paternal deletions. Maternal deletion cases were more likely to have a large head circumference. Pairwise comparisons between individual WBS clinical features showed significant association between (1) low birth weight and poor postnatal weight gain and (2) transient infantile hypercalcemia and a stellate iris pattern. The latter association was thought possibly to indicate a common underlying etiology. </p><p>Tassabehji (2003) reviewed genotype-phenotype correlations in Williams syndrome. </p><p>The WBS locus is prone to recurrent chromosomal rearrangements, including the microdeletion that causes WBS. Reciprocal duplications of the WBS interval should also occur, and Somerville et al. (2005) described such a case. The most striking phenotype was a severe delay in expressive speech, in contrast to the normal articulation and fluent expressive language observed in persons with WBS. The results suggested that specific genes at 7q11.23 are exquisitely sensitive to dosage alterations that can influence human language and visuospatial capabilities. See 609757 for a discussion of the WBS duplication syndrome, which is the reciprocal of the microdeletion that underlies the Williams-Beuren syndrome. </p><p>Dai et al. (2009) provided a detailed genotype/phenotype analysis of a 7-year-old girl with WBS resulting from an atypical 7q11.2 deletion (Jarvinen-Pasley et al., 2008). She had some specific features of the disorder, including growth delay, characteristic facies, cardiovascular involvement with pulmonic stenosis and hypertension, delayed growth, and deficits in visual-spatial construction. However, in contrast to the usual findings in WBS, she had normal developmental milestones, comparatively high cognitive function, and did not have the typical delay in language or overly social behavior. By high-resolution oligonucleotide array CGH analysis, multicolor FISH analysis, and PCR analysis of somatic cell hybrids, they showed that the 1.26- to 1.31-Mb deletion included most of FKBP6, possibly NSUN5 (615732) and TRIM50 (612548), and all of the other genes in the interval through GTF2IRD1, but not GTF2I. Neuropsychologic studies showed that the patient had IQ scores 1 to 23 standard deviations above typical WBS children. Dai et al. (2009) postulated that deletion of the GTF2I gene may not play a role in some of the physical aspects of WBS, but may play an important role in some aspects of cognition and social behavior seen in the disorder. Since the patient did demonstrate defects in visual-spatial construction, deletion of GTF2IRD1 may play a role in that specific dysfunction. Dai et al. (2009) also found no correlation between neurocognitive performance and social behavior among 20 patients with typical WBS, suggesting that the normal social behavior in the atypical patient did not result from better cognition. </p><p>Ferrero et al. (2010) reported an 11-year-old Italian boy with a mild form of WBS with mild facial features, normal IQ, and only some of the neuropsychologic features of the disorder, including visual-spatial defects and performance deficits. Although he demonstrated an extroverted personality in infancy, this disappeared as he got older. FISH analysis and quantitative PCR studies identified a de novo 0.84 to 0.94-Mb deletion in the core of the WBS critical region that partially included the BAZ1B gene (605681), but did not include the GTF2IRD1 or GTF2I genes. The findings were consistent with the hypothesis that hemizygosity of the GTF2IRD1 and GTF2I genes may be involved in the facial dysmorphism and specific motor and cognitive deficits observed in WBS patients, since extremes of these features were not found in the patient. </p><p>Mervis et al. (2012) found that patients with WBS duplication syndrome (609757) had significantly higher levels of separation anxiety (see 607834) compared to patients with WBS and to the general population. Using a parental assessment form with review by a psychologist, Mervis et al. (2012) determined that 8 (29.6%) of 27 children with WBS duplication syndrome had separation anxiety disorder compared to only 9 (4.2%) of 214 patients with WBS. In addition, the proportion of WBS duplication patients with the disorder was significantly higher than in the general population (2.3%). Similar findings were obtained using a second assessment tool. Compared to mice with 1 or 2 copies of the Gtf2i gene, transgenic mice with 3 or 4 copies of the Gtf2i gene showed significantly increased maternal separation-induced anxiety as measured by ultrasonic vocalizations. The findings implicated a role for the GTF2I gene in separation anxiety. </p><p>Vandeweyer et al. (2012) reported 2 healthy adult sibs with a heterozygous 83-kb deletion including only the CLIP2 gene (603432). The individuals were ascertained during a study involving a relative with global developmental delay due to another cause. Detailed physical and neurocognitive testing of the sibs with the CLIP2 deletion did not reveal any abnormalities in either individual. The findings suggested that haploinsufficiency for CLIP2 is not critical for the cognitive profile of WBS, which is in contrast to earlier studies that had implicated CLIP2 in some clinical manifestations of the disorder (see, e.g., Tassabehji et al., 2005, Dai et al., 2009, Ferrero et al., 2010). </p>
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<strong>Molecular Genetics</strong>
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<p>Jones (1990) speculated that calcitonin-gene-related peptide (114130) may be implicated in this disorder. Using 5 restriction enzymes in the study of 13 families, each with at least 1 affected member, Hitman et al. (1989) could find no abnormality of the calcitonin-CGRP gene. Furthermore, no association of the Williams-Beuren syndrome with polymorphism of this gene or of the parathormone (168450) locus was found. Russo et al. (1991) found no abnormality of the calcitonin/CGRP gene on Southern blot analysis of white blood cell DNA in 5 patients. Furthermore, the possibility of small deletions or point mutations within the exon encoding the mature calcitonin hormone was considered unlikely based on the negative findings of ribonuclease protection assays with patient DNA amplified by PCR. Thus the calcitonin deficiency found in these patients may be due either to mutations elsewhere in the gene or to defects in the cellular machinery needed for calcitonin synthesis and/or secretion. </p><p>As with many other haploinsufficiency diseases, the mechanism underlying the WBS deletion is thought to be unequal meiotic recombination, probably mediated by the highly homologous DNA that flanks the commonly deleted region (Baumer et al., 1998). Osborne et al. (2001) used interphase fluorescence in situ hybridization (FISH) and pulsed field gel electrophoresis to identify a genomic polymorphism in families with WBS, consisting of an inversion of the WBS region. They found that the inversion was hemizygous in 3 of 11 (27%) atypical affected individuals who showed a subset of the WBS phenotypic spectrum but did not carry the typical WBS microdeletion. Two of these individuals also had a parent who carried the inversion. In addition, in 4 of 12 (33%) families with a proband carrying the WBS deletion, they observed the inversion exclusively in the parent transmitting the disease-related chromosome. These results suggested the presence of a genomic variant within the population that may be associated with WBS. The variant may result in predisposition to primarily WBS-causing microdeletions, but may also cause translocations and inversions. </p><p>Scherer et al. (2005) reported 2 sibs with WBS and demonstrated that the 7q11 deletion was paternally inherited in both cases. Although DNA from the father was not available for study, the authors used site-specific nucleotide analysis and dosage comparisons to determine that the father carried the inverted WBS variant chromosome (WBSinv-1) reported by Osborne et al. (2001). The inversion of 7q11.23 on one chromosome 7 likely caused misalignment of the WBS region between sister chromatids during meiosis, resulting in deletion and/or duplication of the region during recombination. Scherer et al. (2005) concluded that presence of the WBSinv-1 variant, which is estimated to occur in 5% of the population, confers an increased risk of WBS in the offspring of carriers. The findings were significant in identifying a potential genetic risk factor for WBS. </p><p>Williams-Beuren syndrome represents a model for studying hypertension in a genetically determined disorder. Haploinsufficiency of the elastin gene is known to lead to the vascular stenoses in WBS and is also thought to predispose to hypertension, which is present in approximately 50% of patients. Del Campo et al. (2006) performed detailed clinical and molecular characterization of 96 patients with WBS to explore clinical-molecular correlations. Deletion breakpoints were precisely defined and found to result in variability at 2 genes, NCF1 (608512) and GTF2IRD2 (608899). Hypertension was significantly less prevalent in patients with WBS who had a deletion that included NCF1 (p = 0.02), a gene encoding the p47(phox) subunit of NADPH oxidase. Decreased levels of the p47(phox) protein, decreased superoxide anion production, and lower protein nitrotyrosination were all observed in cell lines from patients hemizygous at NCF1. The results indicated that the loss of a functional copy of NCF1 protects a proportion of patients with WBS against hypertension, likely through a lifelong reduced angiotensin II (see 106150)-mediated oxidative stress. Del Campo et al. (2006) speculated that antioxidant therapy that reduces NADPH oxidase activity might have a benefit in identifiable patients with WBS in whom serious complications related to hypertension have been reported, as well as in forms of essential hypertension mediated by a similar pathogenic mechanism. </p><p>Merla et al. (2006) measured the relative expression level of genes that map within the microdeletion that causes WBS and within its flanking regions. They found, unexpectedly, that not only hemizygous genes but also normal-copy neighboring genes showed decreased relative levels of expression. The results suggested that not only the aneuploid genes but also the flanking genes that map several megabases away from a genomic rearrangement should be considered possible contributors to the phenotypic variation in genomic disorders. </p><p>Kaminsky et al. (2011) presented the largest copy number variant case-control study to that time, comprising 15,749 International Standards for Cytogenomic Arrays cases and 10,118 published controls, focusing on recurrent deletions and duplications involving 14 copy number variant regions. Compared with controls, 14 deletions and 7 duplications were significantly overrepresented in cases, providing a clinical diagnosis as pathogenic. The 7q11.23 deletion was identified in 34 cases and no controls for a p value of 8.49 x 10(-8) and a frequency of 1 in 463 cases. </p>
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<strong>Pathogenesis</strong>
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<p>Strong et al. (2015) assessed genomewide DNA methylation in whole blood in 20 children with Williams syndrome, 10 children with dup7 (609757), and 15 typically developing children using the Infinium HumanMethylation450 BeadChip array. The authors identified striking differences in DNA methylation across the genome. Notably, regions that were differentially methylated in both Williams syndrome and dup7 displayed a significant and symmetrical gene dose-dependent effect, such that Williams syndrome typically showed increased and Dup7 showed decreased DNA methylation. Differentially methylated genes were significantly enriched with genes in pathways involving neurodevelopment, autism spectrum disorder candidate genes, and imprinted genes. Using alignment with ENCODE data, Strong et al. (2015) also found the differentially methylated regions to be enriched with CTCF (604167) binding sites. The authors found that one of the most differentially methylated genes was the ankyrin repeat domain 30B gene (ANKRD30B; 616565), which showed striking dose-dependent DNA methylation changes spanning 11 different probes across the promoter. ANKRD30B is found only in primates and is expressed in brain, breasts, and testes. Other genes showing significant dose-dependent DNA methylation included RFPL2 (605969) and the protocadherin cluster including PCDHA (604966), PCDHB (604967), and PCDHG (604968). There were changes in DNA methylation outside promoter regions of the RGS2 (600861) gene, implicated in anxiety, panic disorder, and schizophrenia. Differential methylation across ANKRD30B, RFPL2, and RGS2 was confirmed by pyrosequencing and real-time PCR analysis. Strong et al. (2015) also found differential methylation enrichment among autism spectrum disorder genes including HDAC4 (605314), SHANK2 (603290), DYRK1A (600855), SHANK3 (606230), NRXN1 (600565), CNTNAP2 (604569), and ANKRD11 (611192). Strong et al. (2015) concluded that, given the extent of DNA methylation changes and the potential impact on CTCF binding and chromatin regulation, epigenetic mechanisms most likely contribute to the complex neurologic phenotypes of WS and Dup7, and suggested that variation in DNA methylation is important in the pathogenesis of Williams syndrome, dup7, and potentially autism spectrum disorders. </p><p>Chailangkarn et al. (2016) investigated neural progenitor cells and cortical neurons derived from Williams syndrome and typically developing induced pluripotent stem cells. Neural progenitor cells in Williams syndrome have an increased doubling time and apoptosis compared with typically developing neural progenitor cells. By analyzing the deletion in an individual with atypical Williams syndrome reported by Edelmann et al. (2007) and Dai et al. (2009), Chailangkarn et al. (2016) narrowed this cellular phenotype to a single gene candidate, frizzled-9 (FZD9; 601766). At the neuronal stage, layer V/VI cortical neurons derived from Williams syndrome were characterized by longer total dendrites, increased numbers of spines and synapses, aberrant calcium oscillation, and altered network connectivity. Morphometric alterations observed in neurons from Williams syndrome were validated after Golgi staining of postmortem layer V/VI cortical neurons. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Diagnosis</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Del Rio et al. (1998) reported a gene-dosage octaplex PCR assay using DNA from buccal smears for the rapid detection of elastin gene deletions in Williams syndrome patients. A domain within the promoter region of the elastin gene spanning exons 20-21, and part of exon 36, were amplified. The disomic reference gene chosen was the lysyl oxidase gene (LOX; 153455), and a domain of LOX was used in preparation of the internal standard. </p>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>To investigate why a loss-of-function mutation in 1 elastin allele causes an obstructive arterial disease, supravalvular aortic stenosis, Li et al. (1998) generated mice hemizygous for the elastin gene (ELN +/-). ELN +/- mice have an expected reduction in ELN mRNA and protein of 50% but nearly normal arterial compliance at physiologic pressures. This discrepancy was explained by a paradoxical increase of 35% in the number of elastic lamellae and smooth muscle in ELN +/- arteries. Examination of humans with ELN hemizygosity revealed a 2.5-fold increase in elastic lamellae and smooth muscle. Thus, ELN hemizygosity in mice and humans induces a compensatory increase in the number of rings of elastic lamellae and smooth muscle during arterial development. Humans are exquisitely sensitive to reduced ELN expression, developing profound arterial thickening and markedly increased risk of obstructive vascular disease. Other factors may contribute to the risk of obstructive arterial disease by reducing ELN expression during development. Hypervitaminosis D, for example, reduces ELN expression in both in vitro and in vivo systems (Vijayakumar and Kurup, 1974; Hinek et al., 1991). Animal models exposed to hypervitaminosis D gave birth to offspring that developed SVAS (Friedman and Roberts, 1966; Chan et al., 1979). These findings supported the model of Li et al. (1998) of reduced gestational ELN expression resulting in abnormal vascular development and obstructive vascular disease. </p><p>Faury et al. (2003) reported that mice with haploinsufficiency for elastin were stably hypertensive from birth. They discussed the mechanism by which decreased elastin in vessel walls leads to hypertension. In a commentary, D'Armiento (2003) provided an illustration of how hemodynamic forces resulting from altered matrix structure influence vascular development. </p><p>Dogs display exaggerated gregariousness, referred to as hypersociability. VonHoldt et al. (2017) examined genomic DNA in blood samples collected from domestic dogs and from wolves that had been hand-reared into adulthood by humans. They found that dogs, but not wolves, showed elevated structural variations in a region of canine chromosome 6 that corresponds to the WBS region of human chromosome 7. These variants appeared to contribute to extreme sociability in dogs. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Miles and Michalski (1983) found duplication of 15q11.2-q13.1 in a boy judged to satisfy the clinical criteria for Williams syndrome. The father, who had the same duplication, had postnatal growth retardation, height at the 2% level at age 12, and bone age consistent with the chronologic age of 12. Kaplan et al. (1987) reported apparent deletion in 15q11-q12 in a child with typical Williams syndrome. </p><p>Jefferson et al. (1986) described a terminal deletion of the long arm of chromosome 4, 46,XX,del(4)(q33), in a female infant with peripheral pulmonary artery stenosis, growth retardation, and physiognomic features consistent with Williams syndrome. </p><p>Bzduch and Lukacova (1989) found features of Williams syndrome in a boy with an interstitial deletion of the long arm of chromosome 6 involving band q22.2-q23. The boy had supravalvular aortic stenosis and also coarctation of the aorta which was repaired surgically. He was short of stature and had microcephaly, long philtrum, and dental anomalies. </p><p>In a 2.5-year-old girl thought to have Williams syndrome, Colley et al. (1992) described a de novo 13;18 unbalanced translocation. </p><p>Tupler et al. (1992) described a girl with severe abnormalities, many of which were consistent with Williams syndrome, in association with an unbalanced complex chromosome rearrangement involving 10 breakpoints and resulting in 4 derivative chromosomes, nos. 1, 2, 4, and 11. The patient was monosomic for the region 4q33-q35.1. Tupler et al. (1992) suggested that the gene for Williams syndrome is located in this region. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Feigl et al. (1980); Garcia et al. (1964); Ino et al. (1985); Martin
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et al. (1984); Monaco (1996); Preus (1984); Reiss et al. (1985); Rowe
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(1963); Vogt et al. (1980); Wesselhoeft et al. (1980)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Collette, J. C., Chen, X.-N., Mills, D. L., Galaburda, A. M., Reiss, A. L., Bellugi, U., Korenberg, J. R.
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<strong>William's syndrome: gene expression is related to parental origin and regional coordinate control.</strong>
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</p>
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<li>
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<p class="mim-text-font">
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Committee on Genetics American Academy of Pediatrics.
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<strong>Health care supervision for children with Williams syndrome.</strong>
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Pediatrics 107: 1192-1204, 2001. Note: Erratum: Pediatrics 109: 329 only, 2002.
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[PubMed: 11331709]
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</p>
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Conway, E. E., Jr., Noonan, J., Marion, R. W., Steeg, C. N.
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<strong>Myocardial infarction leading to sudden death in the Williams syndrome: report of three cases. (Abstract)</strong>
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Am. J. Hum. Genet. 47 (suppl.): A52, 1990.
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</p>
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<li>
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<p class="mim-text-font">
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Cortada, X., Taysi, K., Hartmann, A. F.
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<strong>Familial Williams syndrome.</strong>
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Clin. Genet. 18: 173-176, 1980.
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[PubMed: 7192194]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1980.tb00866.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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D'Armiento, J.
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<strong>Decreased elastin in vessel walls puts the pressure on. (Commentary)</strong>
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J. Clin. Invest. 112: 1308-1310, 2003.
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[PubMed: 14597755]
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[Full Text: https://doi.org/10.1172/JCI20226]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Dai, L., Bellugi, U., Chen, X.-N., Pulst-Korenberg, A. M., Jarvinen-Pasley, A., Tirosh-Wagner, T., Eis, P. S., Graham, J., Mills, D., Searcy, Y., Korenberg, J. R.
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<strong>Is it Williams syndrome? GTF2IRD1 implicated in visual-spatial construction and GTF2I in sociability revealed by high resolution arrays.</strong>
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Am. J. Med. Genet. 149A: 302-314, 2009.
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[PubMed: 19205026]
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[Full Text: https://doi.org/10.1002/ajmg.a.32652]
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</p>
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</li>
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 05/09/2019<br>Patricia A. Hartz - updated : 09/18/2017<br>Ada Hamosh - updated : 10/05/2015<br>Cassandra L. Kniffin - updated : 3/23/2015<br>Ada Hamosh - updated : 10/4/2012<br>Cassandra L. Kniffin - updated : 7/9/2012<br>Cassandra L. Kniffin - updated : 3/24/2011<br>Cassandra L. Kniffin - updated : 4/15/2010<br>Cassandra L. Kniffin - updated : 3/9/2010<br>Cassandra L. Kniffin - updated : 2/4/2010<br>Marla J. F. O'Neill - updated : 1/22/2010<br>Marla J. F. O'Neill - updated : 12/29/2009<br>Cassandra L. Kniffin - updated : 12/15/2008<br>Cassandra L. Kniffin - updated : 8/11/2008<br>Cassandra L. Kniffin - updated : 3/13/2008<br>Cassandra L. Kniffin - updated : 2/27/2007<br>Victor A. McKusick - updated : 7/10/2006<br>Victor A. McKusick - updated : 6/5/2006<br>Siobhan M. Dolan - updated : 4/20/2006<br>Cassandra L. Kniffin - updated : 4/6/2006<br>Victor A. McKusick - updated : 3/15/2006<br>Victor A. McKusick - updated : 12/5/2005<br>Cassandra L. Kniffin - updated : 10/4/2005<br>George E. Tiller - updated : 9/30/2005<br>Cassandra L. Kniffin - updated : 9/7/2005<br>Marla J. F. O'Neill - updated : 7/28/2005<br>Cassandra L. Kniffin - updated : 4/1/2005<br>Cassandra L. Kniffin - updated : 3/1/2005<br>Victor A. McKusick - updated : 1/3/2005<br>Natalie E. Krasikov - updated : 7/6/2004<br>Victor A. McKusick - updated : 5/10/2004<br>Cassandra L. Kniffin - updated : 11/3/2003<br>Victor A. McKusick - updated : 6/26/2003<br>Victor A. McKusick - updated : 6/25/2003<br>Michael B. Petersen - updated : 2/11/2003<br>Michael J. Wright - updated : 10/22/2002<br>Victor A. McKusick - updated : 8/29/2002<br>Cassandra L. Kniffin - updated : 6/3/2002<br>Ada Hamosh - updated : 1/30/2002<br>Ada Hamosh - updated : 1/25/2002<br>Victor A. McKusick - updated : 12/21/2001<br>Victor A. McKusick - updated : 11/1/2001<br>Sonja A. Rasmussen - updated : 3/13/2001<br>Michael J. Wright - updated : 5/5/2000<br>Victor A. McKusick - updated : 2/1/2000<br>Sonja A. Rasmussen - updated : 12/1/1999<br>Victor A. McKusick - updated : 11/16/1999<br>Victor A. McKusick - updated : 9/1/1999<br>Orest Hurko - updated : 7/1/1999<br>Michael J. Wright - updated : 6/18/1999<br>Victor A. McKusick - updated : 4/22/1999<br>Ada Hamosh - updated : 2/18/1999<br>Victor A. McKusick - updated : 1/20/1999<br>Sheryl A. Jankowski - updated : 1/15/1999<br>Victor A. McKusick - updated : 12/10/1998<br>Victor A. McKusick - updated : 12/1/1998<br>Victor A. McKusick - updated : 9/8/1998<br>Victor A. McKusick - updated : 2/20/1998<br>Michael J. Wright - updated : 12/18/1997<br>Victor A. McKusick - updated : 5/16/1997<br>Victor A. McKusick - updated : 3/6/1997<br>Victor A. McKusick - updated : 2/6/1997<br>Moyra Smith - updated : 1/24/1997<br>Moyra Smith - updated : 1/3/1997<br>Moyra Smith - updated : 10/21/1996<br>Iosif W. Lurie - updated : 9/19/1996<br>Iosif W. Lurie - updated : 9/14/1996<br>Iosif W. Lurie - updated : 9/12/1996<br>Iosif W. Lurie - updated : 8/20/1996<br>Iosif W. Lurie - updated : 8/10/1996<br>Orest Hurko - updated : 4/1/1996
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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carol : 09/04/2024<br>carol : 10/12/2020<br>alopez : 05/09/2019<br>alopez : 07/02/2018<br>alopez : 09/18/2017<br>carol : 09/08/2016<br>carol : 09/07/2016<br>alopez : 10/05/2015<br>alopez : 3/24/2015<br>mcolton : 3/23/2015<br>ckniffin : 3/23/2015<br>carol : 2/17/2015<br>carol : 2/13/2015<br>mgross : 4/10/2014<br>tpirozzi : 7/12/2013<br>alopez : 6/10/2013<br>alopez : 10/4/2012<br>terry : 8/17/2012<br>alopez : 7/11/2012<br>ckniffin : 7/9/2012<br>terry : 9/28/2011<br>terry : 5/24/2011<br>wwang : 5/4/2011<br>ckniffin : 4/18/2011<br>ckniffin : 3/24/2011<br>wwang : 2/9/2011<br>ckniffin : 2/8/2011<br>terry : 10/12/2010<br>terry : 9/8/2010<br>terry : 9/1/2010<br>carol : 8/10/2010<br>carol : 8/10/2010<br>alopez : 6/10/2010<br>terry : 5/12/2010<br>wwang : 4/29/2010<br>ckniffin : 4/15/2010<br>wwang : 4/7/2010<br>ckniffin : 3/9/2010<br>wwang : 2/18/2010<br>ckniffin : 2/4/2010<br>wwang : 1/25/2010<br>terry : 1/22/2010<br>wwang : 1/15/2010<br>terry : 12/29/2009<br>terry : 4/9/2009<br>wwang : 3/31/2009<br>carol : 2/10/2009<br>carol : 1/13/2009<br>wwang : 12/22/2008<br>ckniffin : 12/15/2008<br>terry : 9/25/2008<br>wwang : 8/21/2008<br>ckniffin : 8/11/2008<br>carol : 6/5/2008<br>wwang : 5/15/2008<br>ckniffin : 3/13/2008<br>terry : 12/17/2007<br>ckniffin : 9/10/2007<br>carol : 8/31/2007<br>wwang : 3/2/2007<br>ckniffin : 2/27/2007<br>terry : 11/3/2006<br>alopez : 7/18/2006<br>terry : 7/10/2006<br>alopez : 6/8/2006<br>terry : 6/5/2006<br>carol : 4/24/2006<br>terry : 4/20/2006<br>wwang : 4/11/2006<br>ckniffin : 4/6/2006<br>alopez : 3/20/2006<br>terry : 3/15/2006<br>alopez : 1/31/2006<br>alopez : 12/7/2005<br>terry : 12/5/2005<br>wwang : 11/17/2005<br>wwang : 10/6/2005<br>carol : 10/6/2005<br>ckniffin : 10/4/2005<br>alopez : 9/30/2005<br>wwang : 9/28/2005<br>ckniffin : 9/7/2005<br>terry : 7/28/2005<br>wwang : 4/18/2005<br>ckniffin : 4/1/2005<br>wwang : 3/8/2005<br>ckniffin : 3/1/2005<br>tkritzer : 1/13/2005<br>terry : 1/3/2005<br>carol : 7/7/2004<br>terry : 7/6/2004<br>carol : 6/15/2004<br>ckniffin : 6/15/2004<br>tkritzer : 5/26/2004<br>terry : 5/10/2004<br>tkritzer : 11/18/2003<br>ckniffin : 11/3/2003<br>mgross : 9/18/2003<br>tkritzer : 8/1/2003<br>tkritzer : 7/17/2003<br>terry : 6/26/2003<br>carol : 6/26/2003<br>terry : 6/25/2003<br>cwells : 2/11/2003<br>tkritzer : 10/30/2002<br>tkritzer : 10/23/2002<br>terry : 10/22/2002<br>alopez : 10/2/2002<br>tkritzer : 9/5/2002<br>tkritzer : 9/3/2002<br>terry : 8/29/2002<br>carol : 6/3/2002<br>ckniffin : 6/3/2002<br>terry : 3/5/2002<br>alopez : 1/31/2002<br>terry : 1/30/2002<br>terry : 1/25/2002<br>cwells : 1/10/2002<br>cwells : 1/2/2002<br>terry : 12/21/2001<br>alopez : 11/5/2001<br>alopez : 11/2/2001<br>alopez : 11/2/2001<br>terry : 11/1/2001<br>carol : 4/12/2001<br>mcapotos : 3/15/2001<br>mcapotos : 3/13/2001<br>alopez : 5/5/2000<br>carol : 2/14/2000<br>carol : 2/1/2000<br>terry : 2/1/2000<br>mgross : 12/1/1999<br>mgross : 11/18/1999<br>terry : 11/16/1999<br>jlewis : 9/23/1999<br>terry : 9/1/1999<br>mgross : 7/7/1999<br>mgross : 7/2/1999<br>kayiaros : 7/1/1999<br>terry : 6/18/1999<br>alopez : 5/3/1999<br>terry : 4/22/1999<br>alopez : 2/18/1999<br>carol : 1/20/1999<br>psherman : 1/15/1999<br>terry : 12/10/1998<br>carol : 12/2/1998<br>terry : 12/1/1998<br>alopez : 9/9/1998<br>carol : 9/8/1998<br>carol : 4/21/1998<br>alopez : 2/26/1998<br>alopez : 2/20/1998<br>terry : 2/20/1998<br>alopez : 1/15/1998<br>terry : 12/18/1997<br>mark : 9/11/1997<br>mark : 7/8/1997<br>mark : 5/16/1997<br>terry : 5/12/1997<br>jenny : 3/6/1997<br>terry : 2/12/1997<br>terry : 2/6/1997<br>terry : 2/3/1997<br>mark : 1/25/1997<br>terry : 1/24/1997<br>mark : 1/24/1997<br>mark : 1/3/1997<br>terry : 1/2/1997<br>mark : 10/21/1996<br>mark : 10/21/1996<br>terry : 10/7/1996<br>carol : 9/19/1996<br>carol : 9/14/1996<br>carol : 9/12/1996<br>carol : 8/23/1996<br>carol : 8/20/1996<br>carol : 8/10/1996<br>mark : 6/27/1996<br>terry : 6/25/1996<br>terry : 6/20/1996<br>mark : 4/19/1996<br>terry : 4/11/1996<br>mark : 4/2/1996<br>mark : 4/1/1996<br>terry : 4/1/1996<br>terry : 3/23/1996<br>mark : 10/22/1995<br>terry : 10/6/1995<br>mimadm : 6/7/1995<br>carol : 2/27/1995<br>warfield : 3/29/1994<br>carol : 11/29/1993
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