3675 lines
339 KiB
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3675 lines
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Entry
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- #277590 - WEAVER SYNDROME; WVS
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- OMIM
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<p>
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<span class="h4">#277590</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/277590"><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="#diagnosis">Diagnosis</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#history">History</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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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 class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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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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</span>
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</div>
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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=WEAVER 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://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=604&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/NBK148820/" 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/7454" 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/weaver-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=277590[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=3447" 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/f43ab721-f31a-4008-a045-a67e98b804a8/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 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:14731" 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/277590" 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://wormbase.org/resources/disease/DOID:14731" 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 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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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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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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</a>
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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:277590" 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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<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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</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> 63119004<br />
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<strong>ICD10CM:</strong> Q87.3<br />
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<strong>ORPHA:</strong> 3447<br />
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<strong>DO:</strong> 14731<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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277590
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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>
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<span class="mim-font">
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WEAVER SYNDROME; WVS
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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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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WEAVER-SMITH SYNDROME; WSS
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/7/790?start=-3&limit=10&highlight=790">
|
|
7q36.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Weaver syndrome
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/277590"> 277590 </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="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
EZH2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601573"> 601573 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/277590" 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 class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/277590" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/277590" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<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">
|
|
|
|
- Increased prenatal/postnatal length <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848504&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848504</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">
|
|
|
|
- Increased prenatal/postnatal weight <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848505&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848505</a>]</span><br /> -
|
|
Weight more increased than height <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848506&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848506</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> Head </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Macrocephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12138000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12138000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1145403003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1145403003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221355&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221355</a>, <a href="https://bioportal.bioontology.org/search?q=C2243051&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2243051</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001355" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001355</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=dd989bb153739761147ef05dc870b050" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Macrocephaly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=dd989bb153739761147ef05dc870b050" 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 /> -
|
|
Large bifrontal diameter <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848507&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848507</a>]</span><br /> -
|
|
Flattened occiput <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848397&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848397</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- 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 /> -
|
|
Round face in infancy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848508&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848508</a>]</span><br /> -
|
|
Retrognathia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/109515000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">109515000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035353&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035353</a>, <a href="https://bioportal.bioontology.org/search?q=C3494422&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3494422</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000278" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000278</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000278" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000278</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=ede3aa3495baae8accf26d8f779302ba" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Retrognathia-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=ede3aa3495baae8accf26d8f779302ba" 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 /> -
|
|
Prominent chin crease <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3280748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3280748</a>]</span><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">
|
|
|
|
- Large ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/275480001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">275480001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0554972&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0554972</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000400" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000400</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000400" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000400</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- 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 /> -
|
|
Hypertelorism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22006008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020534</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" 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 /> -
|
|
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 /> -
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|
Downslanting palpebral fissures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246800008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246800008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423110&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423110</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000494</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000494</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">
|
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<em> Nose </em>
|
|
</span>
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|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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|
|
- 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 />
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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> CHEST </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ribs Sternum Clavicles & Scapulae </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short ribs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249696007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249696007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426817</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000773" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000773</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000773" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000773</a>]</span><br />
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</span>
|
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</div>
|
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Breasts </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Inverted nipples <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/82231009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">82231009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0269269&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0269269</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003186" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003186</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003186" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003186</a>]</span><br />
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</span>
|
|
</div>
|
|
</div>
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|
</div>
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|
|
</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
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|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Features </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Umbilical hernia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/396347007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">396347007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K42</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K42.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K42.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/553.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">553.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019322&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019322</a>, <a href="https://bioportal.bioontology.org/search?q=C0041636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0041636</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001537</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001537</a>]</span><br /> -
|
|
Diastasis recti <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62629000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62629000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221766&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221766</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001540" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001540</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001540" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001540</a>]</span><br /> -
|
|
Excessive appetite <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/102608004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">102608004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426584&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426584</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Genitalia (Male) </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 /> -
|
|
Hydrocele <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/386152007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">386152007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26614003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26614003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N43.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N43.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/603.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">603.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/603" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">603</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1720771&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1720771</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100673" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100673</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000034" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000034</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000034" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000034</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Internal Genitalia (Male) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cryptorchidism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204878001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204878001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q53.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q53.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010417&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010417</a>, <a href="https://bioportal.bioontology.org/search?q=C5441920&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441920</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span><br />
|
|
|
|
</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">
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|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
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<div>
|
|
<span class="mim-font">
|
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|
- Advanced bone age <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/123982003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">123982003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0545053&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0545053</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005616" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005616</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005616" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005616</a>]</span><br /> -
|
|
Dysharmonic bone age (carpals more advanced than phalanges) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848510&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848510</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200000</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>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br /> -
|
|
Kyphosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/71311003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">71311003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/414564002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">414564002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413428007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413428007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M40.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M40.20</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q76.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q76.41</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/737.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">737.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265673&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265673</a>, <a href="https://bioportal.bioontology.org/search?q=C0022821&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022821</a>, <a href="https://bioportal.bioontology.org/search?q=C2115817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2115817</a>, <a href="https://bioportal.bioontology.org/search?q=C0022822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022822</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002808</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002808</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Pelvis </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Small iliac wings <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865027&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865027</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002866" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002866</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002866" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002866</a>]</span><br /> -
|
|
Coxa valga <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33754009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33754009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16979000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16979000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299236004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299236004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q65.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q65.81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.61</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/736.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.31</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158480&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158480</a>, <a href="https://bioportal.bioontology.org/search?q=C0152430&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152430</a>, <a href="https://bioportal.bioontology.org/search?q=C0239137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239137</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002673" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002673</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002673" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002673</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Limited elbow extension <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867103&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867103</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001377" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001377</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001377" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001377</a>]</span><br /> -
|
|
Limited knee extension <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844690&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844690</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003066" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003066</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003066" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003066</a>]</span><br /> -
|
|
Flared metaphyses (especially distal femora and humeri) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848511&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848511</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Camptodactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29271008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29271008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221369&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221369</a>, <a href="https://bioportal.bioontology.org/search?q=C0685409&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0685409</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012385" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012385</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012385" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012385</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=56cd131f7e4abed85662f1f7e23b10a2" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Camptodactyly-large-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=56cd131f7e4abed85662f1f7e23b10a2" 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 /> -
|
|
Broad thumbs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249773003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249773003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426891&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426891</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011304" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011304</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011304" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011304</a>]</span><br /> -
|
|
Prominent fingertip pads <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835807&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835807</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001212" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001212</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001212" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001212</a>]</span><br /> -
|
|
Large hands <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249752003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249752003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426870&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426870</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001176" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001176</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001176" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001176</a>]</span><br /> -
|
|
Clinodactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17268007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17268007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551485&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551485</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030084" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030084</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030084" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030084</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6c6553591f42fb5585fec835d3e3bab3" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Clinodactyly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6c6553591f42fb5585fec835d3e3bab3" 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 /> -
|
|
Carpal bone development advanced over that of other hand bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3280752&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3280752</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Feet </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
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<span class="mim-font">
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- Talipes equinovarus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397932003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397932003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1156475005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1156475005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.89" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.89</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009081&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009081</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</a>]</span><br /> -
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Calcaneovalgus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860450&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860450</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001848" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001848</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001848" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001848</a>]</span><br /> -
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Metatarsus adductus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23568008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23568008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.22" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.22</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.53" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.53</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265647&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265647</a>, <a href="https://bioportal.bioontology.org/search?q=C4082169&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4082169</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001840" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001840</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001840" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001840</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6cd23b559b8e056832b088ae138ae574" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Metatarsus_Adductus-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6cd23b559b8e056832b088ae138ae574" 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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Short fourth metatarsals <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004689" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004689</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004689" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004689</a>]</span><br /> -
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Prominent toe pads <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848515&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848515</a>]</span><br /> -
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Pes cavus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205091006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205091006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36755004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36755004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86900005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86900005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.73" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.73</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/754.71" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.71</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0728829&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0728829</a>, <a href="https://bioportal.bioontology.org/search?q=C0039273&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039273</a>, <a href="https://bioportal.bioontology.org/search?q=C2239098&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2239098</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Pes_Cavus-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610" 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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Clinodactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17268007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17268007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551485&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551485</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030084" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030084</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030084" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030084</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6c6553591f42fb5585fec835d3e3bab3" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Clinodactyly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6c6553591f42fb5585fec835d3e3bab3" 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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Overriding toes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/203541003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">203541003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0920299&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0920299</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001845" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001845</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001845" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001845</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> SKIN, NAILS, & HAIR </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> Skin </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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- Loose skin <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/58588007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">58588007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q82.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q82.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010495&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010495</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000973" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000973</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000973" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000973</a>]</span><br /> -
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Increased pigmented nevi <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3280754&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3280754</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">
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<em> Nails </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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- Thin, deep-set nails <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848516&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848516</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">
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<em> Hair </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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- Thin hair <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247546006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247546006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423867&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423867</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002213" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002213</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002213" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002213</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> NEUROLOGIC </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> Central Nervous System </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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- Speech delay <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/229721007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">229721007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241210&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241210</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000750</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000750</a>]</span><br /> -
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Dysarthric speech <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8011004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8011004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.13</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/784.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span><br /> -
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Slurred speech <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/289195008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">289195008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R47.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R47.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234518&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234518</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001350" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001350</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001350" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001350</a>]</span><br /> -
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Developmental delay <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248290002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248290002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/224958001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">224958001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F88</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/315.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">315.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0557874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0557874</a>, <a href="https://bioportal.bioontology.org/search?q=C0424605&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424605</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span><br /> -
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Mental retardation <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">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a>, <a href="https://bioportal.bioontology.org/search?q=C0025362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025362</a> 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> <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 /> -
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Hypertonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56731001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56731001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/41581000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">41581000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026826&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026826</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001276" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001276</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001276" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001276</a>]</span><br /> -
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Spasticity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/221360009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">221360009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397790002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397790002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026838&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026838</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001257</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001257</a>]</span><br /> -
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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 /> -
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Seizures, tonic-clonic or absence (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3280746&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3280746</a>]</span><br /> -
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Absent septum pellucidum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253143001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253143001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0431371&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0431371</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001331" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001331</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001331" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001331</a>]</span><br /> -
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Lateral ventricle dilatation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856409&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856409</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006956" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006956</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006956" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006956</a>]</span><br /> -
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Behavioral problems <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/277843001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">277843001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5886745&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5886745</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000708" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000708</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000708" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000708</a>]</span><br />
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<span class="h5 mim-font">
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<strong> VOICE </strong>
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- Coarse, low-pitched voice <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848517&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848517</a>]</span><br />
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</span>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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<span class="mim-font">
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- Most cases are sporadic<br /> -
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Significant clinical overlap with Sotos syndrome (<a href="/entry/117550">117550</a>)<br />
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</span>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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<span class="mim-font">
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- Caused by mutation in the homolog 2 of Drosophila enhancer of zeste (EZH2, <a href="/entry/601573#0001">601573.0001</a>)<br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Weaver syndrome (WVS) is caused by heterozygous mutation in the EZH2 gene (<a href="/entry/601573">601573</a>) on chromosome 7q36.</p>
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<p>Weaver syndrome (WVS) comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay. Most cases are sporadic, although autosomal dominant inheritance has been reported. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome (<a href="/entry/117550">117550</a>), distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand in Weaver syndrome, whereas in Sotos syndrome carpal bone development is at or behind that of the rest of the hand (summary by <a href="#2" class="mim-tip-reference" title="Basel-Vanagaite, L. <strong>Acute lymphoblastic leukemia in Weaver syndrome.</strong> Am. J. Med. Genet. 152A: 383-386, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20101679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20101679</a>] [<a href="https://doi.org/10.1002/ajmg.a.33244" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20101679">Basel-Vanagaite, 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20101679" 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>Sotos syndrome (<a href="/entry/117550">117550</a>), which shows considerable phenotypic overlap with Weaver syndrome, is caused by mutation in the NSD1 gene (<a href="/entry/601573">601573</a>) on chromosome 5q35. Other 'Weaver-like' syndromes include Cohen-Gibson syndrome (COGIS; <a href="/entry/617561">617561</a>), caused by heterozygous mutation in the EED gene (<a href="/entry/605984">605984</a>) on chromosome 11q14; and Imagawa-Matsumoto syndrome (IMMAS; <a href="/entry/618786">618786</a>), caused by heterozygous mutation in the SUZ12 gene (<a href="/entry/606245">606245</a>) on chromosome 17q11.</p><p>The 'Weaver-like' syndrome reported by <a href="#23" class="mim-tip-reference" title="Stoll, C., Talon, P., Mengus, L., Roth, M. P., Dott, B. <strong>A Weaver-like syndrome with endocrinological abnormalities in a boy and his mother.</strong> Clin. Genet. 28: 255-259, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4064364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4064364</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1985.tb00396.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4064364">Stoll et al. (1985)</a> in a mother and son may be a separate entity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4064364" 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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<strong>Clinical Features</strong>
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<p><a href="#26" class="mim-tip-reference" title="Weaver, D. D., Graham, C. B., Thomas, I. T., Smith, D. W. <strong>A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly.</strong> J. Pediat. 84: 547-552, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4366187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4366187</a>] [<a href="https://doi.org/10.1016/s0022-3476(74)80675-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4366187">Weaver et al. (1974)</a> described 2 'strikingly similar' unrelated male infants who had accelerated growth and osseous maturation, unusual craniofacial appearance, hoarse and low-pitched cry, and hypertonia with camptodactyly. Dysmorphic facial features included large bifrontal diameter, flat occiput, large ears, ocular hypertelorism, long philtrum, and relative micrognathia. Reports by <a href="#13" class="mim-tip-reference" title="Gemme, G., Bonioli, E., Ruffa, G., Lagorio, V. <strong>The Weaver-Smith syndrome.</strong> J. Pediat. 97: 962-964, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7441429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7441429</a>] [<a href="https://doi.org/10.1016/s0022-3476(80)80436-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7441429">Gemme et al. (1980)</a>, <a href="#27" class="mim-tip-reference" title="Weisswichert, P. H., Knapp, G., Willich, E. <strong>Accelerated bone maturation syndrome of the Weaver type.</strong> Europ. J. Pediat. 137: 329-333, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7318847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7318847</a>] [<a href="https://doi.org/10.1007/BF00443267" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7318847">Weisswichert et al. (1981)</a>, <a href="#16" class="mim-tip-reference" title="Hall, B. D. <strong>Weaver syndrome: expanded natural history.</strong> Prog. Clin. Biol. Res. 200: 123-144, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4080734/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4080734</a>]" pmid="4080734">Hall (1985)</a>, and <a href="#1" class="mim-tip-reference" title="Ardinger, H. H., Hanson, J. W., Harrod, M. J. E., Cohen, M. M., Tibbles, J. A. R., Welch, J. P., Young-Wee, T., Sommer, A., Goldberg, R., Shprintzen, R. J., Sidoti, E. J., Leichtman, L. G., Hoyme, H. E. <strong>Further delineation of Weaver syndrome.</strong> J. Pediat. 108: 228-235, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2418189/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2418189</a>] [<a href="https://doi.org/10.1016/s0022-3476(86)80988-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2418189">Ardinger et al. (1986)</a> suggested that Weaver syndrome is a distinct entity. Other features included psychomotor delay, looseness of skin, and hernias. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4366187+7318847+7441429+2418189+4080734" 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="#6" class="mim-tip-reference" title="Dawood, A. A. <strong>Weaver's syndrome--primordial excessive growth velocity: a case report.</strong> S. Afr. Med. J. 67: 646-648, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3983749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3983749</a>]" pmid="3983749">Dawood (1985)</a> reported a patient whose case was also pictured by <a href="#3" class="mim-tip-reference" title="Beighton, P. <strong>Inherited Disorders of the Skeleton. (2nd ed.)</strong> London: Churchill Livingstone (pub.) 1988. P. 455."None>Beighton (1988)</a>. The child weighed 10.2 kg at birth and had large ears, long philtrum, and protuberant lower lip, as well as an umbilical hernia and excessive skin folds. At the age of 14 months, he weighed 30 kg, and progressive thoracolumbar kyphosis associated with platyspondyly and vertebral wedging had developed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3983749" 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="#25" class="mim-tip-reference" title="Teebi, A. S., Sundareshan, T. S., Hammouri, M. Y., Al-Awadi, S. A., Al-Saleh, Q. A. <strong>A new autosomal recessive disorder resembling Weaver syndrome.</strong> Am. J. Med. Genet. 33: 479-482, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2596508/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2596508</a>] [<a href="https://doi.org/10.1002/ajmg.1320330413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2596508">Teebi et al. (1989)</a> noted that most of the approximately 21 cases reported after the original article by <a href="#26" class="mim-tip-reference" title="Weaver, D. D., Graham, C. B., Thomas, I. T., Smith, D. W. <strong>A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly.</strong> J. Pediat. 84: 547-552, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4366187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4366187</a>] [<a href="https://doi.org/10.1016/s0022-3476(74)80675-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4366187">Weaver et al. (1974)</a> were sporadic, and that because the diagnosis in all cases has not been considered completely certain (see <a href="#10" class="mim-tip-reference" title="Fitch, N. <strong>Update on the Marshall-Smith-Weaver controversy. (Letter)</strong> Am. J. Med. Genet. 20: 559-562, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3993681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3993681</a>] [<a href="https://doi.org/10.1002/ajmg.1320200318" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3993681">Fitch, 1985</a>), it was difficult to draw any definite conclusions about a possible genetic basis. <a href="#25" class="mim-tip-reference" title="Teebi, A. S., Sundareshan, T. S., Hammouri, M. Y., Al-Awadi, S. A., Al-Saleh, Q. A. <strong>A new autosomal recessive disorder resembling Weaver syndrome.</strong> Am. J. Med. Genet. 33: 479-482, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2596508/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2596508</a>] [<a href="https://doi.org/10.1002/ajmg.1320330413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2596508">Teebi et al. (1989)</a> described a brother and sister, born to consanguineous Bedouin parents, who manifested features resembling those of Weaver syndrome. Both had accelerated growth of prenatal onset, hypotonia, psychomotor retardation, excess loose skin, peculiar craniofacial and acral anomalies, dental dysplasia and/or serrated gums, joint laxity, and hoarse, low-pitched cry. One of them had accelerated harmonic skeletal maturation. The acral anomalies included short fifth digit with clinodactyly V. However, <a href="#4" class="mim-tip-reference" title="Cole, T. R. P., Dennis, N. R., Hughes, H. E. <strong>Weaver syndrome.</strong> J. Med. Genet. 29: 332-337, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1583661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1583661</a>] [<a href="https://doi.org/10.1136/jmg.29.5.332" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1583661">Cole et al. (1992)</a> questioned that either case reported by <a href="#25" class="mim-tip-reference" title="Teebi, A. S., Sundareshan, T. S., Hammouri, M. Y., Al-Awadi, S. A., Al-Saleh, Q. A. <strong>A new autosomal recessive disorder resembling Weaver syndrome.</strong> Am. J. Med. Genet. 33: 479-482, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2596508/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2596508</a>] [<a href="https://doi.org/10.1002/ajmg.1320330413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2596508">Teebi et al. (1989)</a> had the Weaver-Smith syndrome. The younger sib did not exhibit accelerated growth and had delayed bone maturation at the age of 13 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4366187+2596508+3993681+1583661" 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="Greenberg, F., Wasiewski, W., McCabe, E. R. B. <strong>Weaver syndrome: the changing phenotype in an adult.</strong> Am. J. Med. Genet. 33: 127-129, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2750780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2750780</a>] [<a href="https://doi.org/10.1002/ajmg.1320330120" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2750780">Greenberg et al. (1989)</a> described a patient with presumed Weaver syndrome who was followed for more than 20 years. At the age of 25, her height (187 cm), as well as her weight and head circumference, was above the 98th centile. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2750780" 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="#4" class="mim-tip-reference" title="Cole, T. R. P., Dennis, N. R., Hughes, H. E. <strong>Weaver syndrome.</strong> J. Med. Genet. 29: 332-337, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1583661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1583661</a>] [<a href="https://doi.org/10.1136/jmg.29.5.332" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1583661">Cole et al. (1992)</a> presented the details of 4 new cases of Weaver-Smith syndrome and reviewed the published reports. They suggested that in the early years of life the facial features are characteristic; despite retrognathia, the chin is distinctive and may be dimpled. Bone age is advanced. <a href="#4" class="mim-tip-reference" title="Cole, T. R. P., Dennis, N. R., Hughes, H. E. <strong>Weaver syndrome.</strong> J. Med. Genet. 29: 332-337, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1583661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1583661</a>] [<a href="https://doi.org/10.1136/jmg.29.5.332" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1583661">Cole et al. (1992)</a> pointed out that Weaver syndrome may be difficult to differentiate from Sotos syndrome (<a href="/entry/117550">117550</a>), but early photographs may be distinguishing because there is likely to be a longer face and jaw in Sotos syndrome than in WVS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1583661" 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="Dumic, M., Vukovic, J., Cvitkovic, M., Medica, I. <strong>Twins and their mildly affected mother with Weaver syndrome.</strong> Clin. Genet. 44: 338-340, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8131308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8131308</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1993.tb03912.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8131308">Dumic et al. (1993)</a> described unlike-sex twins with this disorder, thought to be in classic form, and their mildly affected mother. They suggested autosomal dominant inheritance. The twins showed overgrowth, macrocephaly, and unusual facial features. The mother showed macrocephaly, long philtrum, hoarse voice, large ears, and hyperextensibility of the fingers--all features found in both twins. All 3 showed palmar and plantar hyperhidrosis, and the twins showed nail dysplasia. <a href="#12" class="mim-tip-reference" title="Fryer, A., Smith, C., Rosenbloom, L., Cole, T. <strong>Autosomal dominant inheritance of Weaver syndrome.</strong> J. Med. Genet. 34: 418-419, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9152841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9152841</a>] [<a href="https://doi.org/10.1136/jmg.34.5.418" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9152841">Fryer et al. (1997)</a> questioned the certainty of the diagnosis in the cases described by <a href="#8" class="mim-tip-reference" title="Dumic, M., Vukovic, J., Cvitkovic, M., Medica, I. <strong>Twins and their mildly affected mother with Weaver syndrome.</strong> Clin. Genet. 44: 338-340, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8131308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8131308</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1993.tb03912.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8131308">Dumic et al. (1993)</a>, but provided further evidence for autosomal dominant inheritance by describing an affected father and daughter. The daughter had accelerated growth, advanced bone age, characteristic facial features, flat, deep-set nails, and developmental delay. The father had had accelerated growth in childhood and exhibited macrocephaly, large hands, deep-set nails, and facial features similar to those of his daughter. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8131308+9152841" 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="#20" class="mim-tip-reference" title="Opitz, J. M., Weaver, D. W., Reynolds, J. F., Jr. <strong>The syndromes of Sotos and Weaver: reports and review.</strong> Am. J. Med. Genet. 79: 294-304, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9781911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9781911</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19981002)79:4<294::aid-ajmg12>3.0.co;2-m" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9781911">Opitz et al. (1998)</a> reported affected mother and daughter. The mother was described as a large infant and 'as tall as her teacher in school.' Her adult height was 185.4 cm, and she had mandibular prognathism and a prominent pointed chin. The daughter showed a prominent forehead with sparseness of frontal hair and a 'ruddy' or flushed complexion, especially of the nose and perioral area. She had prominent features of the congenital hypotonia/lymphedema sequence with hypermobile joints, especially at the knees and ankles, lymphedema nails (especially toenails), and a high total ridge count (TRC) of the fingertip dermatoglyphics. The mother also had a high TRC and a receding frontal hairline. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9781911" 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="#21" class="mim-tip-reference" title="Proud, V. K., Braddock, S. R., Cook, L., Weaver, D. D. <strong>Weaver syndrome: autosomal dominant inheritance of the disorder.</strong> Am. J. Med. Genet. 79: 305-310, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9781912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9781912</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19981002)79:4<305::aid-ajmg13>3.0.co;2-v" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9781912">Proud et al. (1998)</a> noted that although there had been 3 reports of close relatives (sibs or both parent and offspring) affected with Weaver syndrome, the disorder generally occurs sporadically, and the recurrence risk in sporadic cases appears to be low. <a href="#21" class="mim-tip-reference" title="Proud, V. K., Braddock, S. R., Cook, L., Weaver, D. D. <strong>Weaver syndrome: autosomal dominant inheritance of the disorder.</strong> Am. J. Med. Genet. 79: 305-310, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9781912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9781912</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19981002)79:4<305::aid-ajmg13>3.0.co;2-v" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9781912">Proud et al. (1998)</a> reported a family in which the propositus and his sister were born with the facial phenotype, clubfeet, and macrosomia characteristic of Weaver syndrome. Their father had macrosomia and macrocephaly as an adult, and childhood photos showed clearly that he had Weaver syndrome. Two sisters of the propositus had normal growth and development. <a href="#21" class="mim-tip-reference" title="Proud, V. K., Braddock, S. R., Cook, L., Weaver, D. D. <strong>Weaver syndrome: autosomal dominant inheritance of the disorder.</strong> Am. J. Med. Genet. 79: 305-310, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9781912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9781912</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19981002)79:4<305::aid-ajmg13>3.0.co;2-v" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9781912">Proud et al. (1998)</a> advanced this family as an example of autosomal dominant inheritance. The father was 193 cm tall and weighed 124.1 kg. The occipital-frontal circumference was 62.8 cm (+5 SD). The hands measured large. At birth the propositus was noted to have macrocephaly, ocular hypertelorism, downslanting palpebral fissures, micrognathia, finger contractures, and dislocated left hip in addition to bilateral talipes equinovarus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9781912" 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="Freeman, B. M., Breiter, S. N., Hoon, A. H., Jr., Hamosh, A. <strong>Pachygyria in Weaver syndrome. (Letter)</strong> Am. J. Med. Genet. 86: 395-397, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10494098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10494098</a>]" pmid="10494098">Freeman et al. (1999)</a> described pachygyria in an infant thought to have Weaver syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10494098" 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="#7" class="mim-tip-reference" title="Derry, C., Temple, I. K., Venkat-Raman, K. <strong>A probable case of familial Weaver syndrome associated with neoplasia.</strong> J. Med. Genet. 36: 725-728, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10507738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10507738</a>]" pmid="10507738">Derry et al. (1999)</a> reported a mother and son with probable Weaver syndrome. The mother had developed an ovarian endodermal sinus tumor at the age of 17 years. <a href="#7" class="mim-tip-reference" title="Derry, C., Temple, I. K., Venkat-Raman, K. <strong>A probable case of familial Weaver syndrome associated with neoplasia.</strong> J. Med. Genet. 36: 725-728, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10507738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10507738</a>]" pmid="10507738">Derry et al. (1999)</a> pointed out the association of other overgrowth syndromes with neoplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10507738" 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="Kelly, T. E., Alford, B. A., Abel, M. <strong>Cervical spine anomalies and tumors in Weaver syndrome.</strong> Am. J. Med. Genet. 95: 492-495, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11146472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11146472</a>] [<a href="https://doi.org/10.1002/1096-8628(20001218)95:5<492::aid-ajmg15>3.0.co;2-t" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11146472">Kelly et al. (2000)</a> described half brothers with Weaver syndrome whose father had essentially normal physical findings apart from tall stature, but who, like his sons, had cervical spine anomalies. Although these anomalies are variable, they may represent a consistent radiographic finding in Weaver syndrome that can aid in the diagnosis of affected adults. One of the brothers had a sacrococcygeal teratoma that was resected at birth; the authors stated that he represented the third reported patient with Weaver syndrome and neoplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11146472" 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="#2" class="mim-tip-reference" title="Basel-Vanagaite, L. <strong>Acute lymphoblastic leukemia in Weaver syndrome.</strong> Am. J. Med. Genet. 152A: 383-386, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20101679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20101679</a>] [<a href="https://doi.org/10.1002/ajmg.a.33244" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20101679">Basel-Vanagaite (2010)</a> described a 4.5-year-old girl with 'typical' Weaver syndrome, born of nonconsanguineous Jewish parents, who developed acute lymphoblastic leukemia. She exhibited speech and motor delays, with relatively normal cognitive abilities, and had a hoarse voice. Examination revealed somewhat sparse hair, broad forehead, broad straight eyebrows, hypertelorism, prominent wide philtrum, wide cupid bow, mild micrognathia, broad face and neck, fleshy earlobes, sloping shoulders, broad thumbs, deep-set and narrow nails, loose palmar skin, and mild hypertrichosis. Her hands and feet were large, and she had mild scoliosis and joint hyperlaxity. Neurologic, eye, and hearing findings were normal. At the chronologic age of 4.3 years, carpal bone age was compatible with 7.8 years, whereas the distal radial and ulnar epiphyses were compatible with a bone age of 5.75 years. At 4.3 years of age, evaluation of severe back pain with vertebral changes resulted in a diagnosis of acute lymphoblastic leukemia. Microarray analysis and sequencing of the NSD1 gene (<a href="/entry/601573">601573</a>) were negative. <a href="#2" class="mim-tip-reference" title="Basel-Vanagaite, L. <strong>Acute lymphoblastic leukemia in Weaver syndrome.</strong> Am. J. Med. Genet. 152A: 383-386, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20101679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20101679</a>] [<a href="https://doi.org/10.1002/ajmg.a.33244" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20101679">Basel-Vanagaite (2010)</a> stated that tumors or hematologic malignancy in Weaver syndrome had previously been reported in 6 patients, for an overall frequency of approximately 11%, but noted that this was likely to be an overestimate, biased by failure to report cases without tumors and overreporting of cases with this rare association. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20101679" 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="#14" class="mim-tip-reference" title="Gibson, W. T., Hood, R. L., Zhan, S. H., Bulman, D. E., Fejes, A. P., Moore, R., Mungall, A. J., Eydoux, P., Babul-Hirji, R., An, J., Marra, M. A., FORGE Canada Consortium, Chitayat, D., Boycott, K. M., Weaver, D. D., Jones, S. J. M. <strong>Mutations in EZH2 cause Weaver syndrome.</strong> Am. J. Hum. Genet. 90: 110-118, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22177091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22177091</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22177091[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.2011.11.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22177091">Gibson et al. (2012)</a> provided follow-up on 'patient 1,' the 18-month-old male infant originally reported by <a href="#26" class="mim-tip-reference" title="Weaver, D. D., Graham, C. B., Thomas, I. T., Smith, D. W. <strong>A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly.</strong> J. Pediat. 84: 547-552, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4366187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4366187</a>] [<a href="https://doi.org/10.1016/s0022-3476(74)80675-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4366187">Weaver et al. (1974)</a>, then 30 years of age, and described 2 additional unrelated patients with Weaver syndrome, 11-year-old and 19-year-old females. Features shared by all 3 patients included excessive growth of prenatal onset, accelerated osseous maturation, hoarse low-pitched cry, mild intellectual disability, poor fine motor coordination, poor balance and gravitational insecurity, macrocephaly, large bifrontal diameter, large ears, downslanting palpebral fissures, long philtrum, retrognathia, prominent digit pads, thin deep-set nails, umbilical hernia, and 10- to 20-degree scoliosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22177091+4366187" 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>There has been considerable debate whether Sotos and Weaver syndromes are representative of locus or allelic heterogeneity (<a href="#5" class="mim-tip-reference" title="Cole, T. <strong>Growing interest in overgrowth.</strong> Arch. Dis. Child. 78: 200-204, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9613346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9613346</a>] [<a href="https://doi.org/10.1136/adc.78.3.200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9613346">Cole, 1998</a>; <a href="#20" class="mim-tip-reference" title="Opitz, J. M., Weaver, D. W., Reynolds, J. F., Jr. <strong>The syndromes of Sotos and Weaver: reports and review.</strong> Am. J. Med. Genet. 79: 294-304, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9781911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9781911</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19981002)79:4<294::aid-ajmg12>3.0.co;2-m" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9781911">Opitz et al., 1998</a>). The facial appearance is somewhat similar in the 2 disorders, but experienced dysmorphologists believe they are distinct. Clinical features occurring in Weaver syndrome include a hoarse low-pitched cry, metaphyseal flaring of the femurs, deep-set nails, prominent fingertip pads, and camptodactyly. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9781911+9613346" 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="#20" class="mim-tip-reference" title="Opitz, J. M., Weaver, D. W., Reynolds, J. F., Jr. <strong>The syndromes of Sotos and Weaver: reports and review.</strong> Am. J. Med. Genet. 79: 294-304, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9781911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9781911</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19981002)79:4<294::aid-ajmg12>3.0.co;2-m" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9781911">Opitz et al. (1998)</a> discussed the differentiation of the 2 overgrowth syndromes, that of Sotos and that of Weaver, and the question of whether the similarities are sufficient to consider them 1 entity. Possible phenotypic differences between the 2 syndromes pointed out by <a href="#20" class="mim-tip-reference" title="Opitz, J. M., Weaver, D. W., Reynolds, J. F., Jr. <strong>The syndromes of Sotos and Weaver: reports and review.</strong> Am. J. Med. Genet. 79: 294-304, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9781911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9781911</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19981002)79:4<294::aid-ajmg12>3.0.co;2-m" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9781911">Opitz et al. (1998)</a> were the following: the Sotos syndrome may be a cancer syndrome, whereas the Weaver syndrome is not (although a neuroblastoma had been reported in the latter disorder). In Sotos syndrome there is remarkably advanced dental maturation; this is rarely commented on in Weaver syndrome. In Weaver syndrome, there are more conspicuous contractures and a facial appearance that experts find convincingly different from that in Sotos syndrome. <a href="#20" class="mim-tip-reference" title="Opitz, J. M., Weaver, D. W., Reynolds, J. F., Jr. <strong>The syndromes of Sotos and Weaver: reports and review.</strong> Am. J. Med. Genet. 79: 294-304, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9781911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9781911</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19981002)79:4<294::aid-ajmg12>3.0.co;2-m" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9781911">Opitz et al. (1998)</a> favored allelic heterogeneity as the explanation for the similarities between Sotos and Weaver syndromes. They suggested that mapping and isolation of the causative gene or genes would settle the issue. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9781911" 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>Based on a review of 34 reported patients with unequivocal Weaver syndrome, <a href="#18" class="mim-tip-reference" title="Khosravi, M., Weaver, D. D., Christensen, D., McCandless, D. <strong>Criteria for the diagnosis of the Weaver syndrome.</strong> Proc. Greenwood Genet. Center 20: 125-126, 2011."None>Khosravi et al. (2011)</a> suggested that a diagnosis of Weaver syndrome should include at least 8 of the following 10 features: excessive postnatal growth, macrocephaly, increased bifrontal diameter, ocular hypertelorism, prominent and/or long philtrum, micrognathia, large ears, hoarse and/or low pitched cry, advanced general and carpal osseous maturation, and broad metaphyses.</p><p><a href="#14" class="mim-tip-reference" title="Gibson, W. T., Hood, R. L., Zhan, S. H., Bulman, D. E., Fejes, A. P., Moore, R., Mungall, A. J., Eydoux, P., Babul-Hirji, R., An, J., Marra, M. A., FORGE Canada Consortium, Chitayat, D., Boycott, K. M., Weaver, D. D., Jones, S. J. M. <strong>Mutations in EZH2 cause Weaver syndrome.</strong> Am. J. Hum. Genet. 90: 110-118, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22177091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22177091</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22177091[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.2011.11.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22177091">Gibson et al. (2012)</a> stated that features distinguishing Weaver syndrome from Sotos syndrome include retrognathia with a prominent chin crease, sometimes described as a 'stuck-on chin,' increased prenatal growth, and a carpal bone age that is greatly advanced compared to metacarpal and phalangeal age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22177091" 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 heterozygous mutations in the EZH2 gene that were identified in patients with Weaver syndrome by <a href="#14" class="mim-tip-reference" title="Gibson, W. T., Hood, R. L., Zhan, S. H., Bulman, D. E., Fejes, A. P., Moore, R., Mungall, A. J., Eydoux, P., Babul-Hirji, R., An, J., Marra, M. A., FORGE Canada Consortium, Chitayat, D., Boycott, K. M., Weaver, D. D., Jones, S. J. M. <strong>Mutations in EZH2 cause Weaver syndrome.</strong> Am. J. Hum. Genet. 90: 110-118, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22177091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22177091</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22177091[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.2011.11.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22177091">Gibson et al. (2012)</a> occurred de novo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22177091" 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 heterozygous mutations in the EZH2 gene that were identified in 4 patients with Weaver syndrome by <a href="#24" class="mim-tip-reference" title="Tatton-Brown, K., Hanks, S., Ruark, E., Zachariou, A., Del Vecchio Duarte, S., Ramsay, E., Snape, K., Murray, A., Perdeaux, E. R., Seal, S., Loveday, C., Banka, S., and 16 others. <strong>Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.</strong> Oncotarget 2: 1127-33, 2011. Note: Erratum: Oncotarget 9: 36719 only, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22190405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22190405</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22190405[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/10.18632/oncotarget.385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22190405">Tatton-Brown et al. (2011)</a> were confirmed to have occurred de novo in 3 patients; DNA from both parents was not available for the fourth patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22190405" 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="#14" class="mim-tip-reference" title="Gibson, W. T., Hood, R. L., Zhan, S. H., Bulman, D. E., Fejes, A. P., Moore, R., Mungall, A. J., Eydoux, P., Babul-Hirji, R., An, J., Marra, M. A., FORGE Canada Consortium, Chitayat, D., Boycott, K. M., Weaver, D. D., Jones, S. J. M. <strong>Mutations in EZH2 cause Weaver syndrome.</strong> Am. J. Hum. Genet. 90: 110-118, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22177091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22177091</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22177091[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.2011.11.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22177091">Gibson et al. (2012)</a> performed exome sequencing in 2 unrelated patients with Weaver syndrome, including 1 of the patients originally described by <a href="#26" class="mim-tip-reference" title="Weaver, D. D., Graham, C. B., Thomas, I. T., Smith, D. W. <strong>A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly.</strong> J. Pediat. 84: 547-552, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4366187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4366187</a>] [<a href="https://doi.org/10.1016/s0022-3476(74)80675-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4366187">Weaver et al. (1974)</a>, and their 4 unaffected parents. In both patients, heterozygous de novo mutations were identified in the EZH2 gene (Y153del, <a href="/entry/601573#0001">601573.0001</a> and H694Y, <a href="/entry/601573#0002">601573.0002</a>, respectively); the presence of the mutations and their de novo status were confirmed by Sanger sequencing. Sequencing of EZH2 in a third patient with Weaver syndrome revealed heterozygosity for another de novo missense mutation (P132S; <a href="/entry/601573#0003">601573.0003</a>). <a href="#14" class="mim-tip-reference" title="Gibson, W. T., Hood, R. L., Zhan, S. H., Bulman, D. E., Fejes, A. P., Moore, R., Mungall, A. J., Eydoux, P., Babul-Hirji, R., An, J., Marra, M. A., FORGE Canada Consortium, Chitayat, D., Boycott, K. M., Weaver, D. D., Jones, S. J. M. <strong>Mutations in EZH2 cause Weaver syndrome.</strong> Am. J. Hum. Genet. 90: 110-118, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22177091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22177091</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22177091[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.2011.11.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22177091">Gibson et al. (2012)</a> noted that a somatic mutation at his694 had previously been found in chronic myelomonocytic leukemia (CMML), as well as mutations in nearby residues at positions 690 and 693 in other hematologic malignancies (<a href="#19" class="mim-tip-reference" title="Makishima, H., Jankowska, A. M., Tiu, R. V., Szpurka, H., Sugimoto, Y., Hu, Z., Saunthararajah, Y., Guinta, K., Keddache, M. A., Putnam, P., Sekeres, M. A., Moliterno, A. R., List, A. F., McDevitt, M. A., Maciejewski, J. P. <strong>Novel homo- and hemizygous mutations in EZH2 in myeloid malignancies.</strong> Leukemia 24: 1799-1804, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20724984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20724984</a>] [<a href="https://doi.org/10.1038/leu.2010.167" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20724984">Makishima et al., 2010</a>). Given that patients with Weaver syndrome had been reported to develop tumors or malignancies, including acute lymphoblastic leukemia, <a href="#14" class="mim-tip-reference" title="Gibson, W. T., Hood, R. L., Zhan, S. H., Bulman, D. E., Fejes, A. P., Moore, R., Mungall, A. J., Eydoux, P., Babul-Hirji, R., An, J., Marra, M. A., FORGE Canada Consortium, Chitayat, D., Boycott, K. M., Weaver, D. D., Jones, S. J. M. <strong>Mutations in EZH2 cause Weaver syndrome.</strong> Am. J. Hum. Genet. 90: 110-118, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22177091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22177091</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22177091[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.2011.11.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22177091">Gibson et al. (2012)</a> suggested that constitutive EZH2 mutations might confer a mild predisposition to malignancy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22177091+4366187+20724984" 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 4 patients with classic features of Weaver syndrome, <a href="#24" class="mim-tip-reference" title="Tatton-Brown, K., Hanks, S., Ruark, E., Zachariou, A., Del Vecchio Duarte, S., Ramsay, E., Snape, K., Murray, A., Perdeaux, E. R., Seal, S., Loveday, C., Banka, S., and 16 others. <strong>Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.</strong> Oncotarget 2: 1127-33, 2011. Note: Erratum: Oncotarget 9: 36719 only, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22190405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22190405</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22190405[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/10.18632/oncotarget.385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22190405">Tatton-Brown et al. (2011)</a> identified heterozygous mutations in the EZH2 gene (see, e.g., <a href="/entry/601573#0004">601573.0004</a>-<a href="/entry/601573#0006">601573.0006</a>). The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, were not present in 7 parental samples available for study, establishing that the mutations were de novo in at least 3 of the patients. <a href="#24" class="mim-tip-reference" title="Tatton-Brown, K., Hanks, S., Ruark, E., Zachariou, A., Del Vecchio Duarte, S., Ramsay, E., Snape, K., Murray, A., Perdeaux, E. R., Seal, S., Loveday, C., Banka, S., and 16 others. <strong>Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.</strong> Oncotarget 2: 1127-33, 2011. Note: Erratum: Oncotarget 9: 36719 only, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22190405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22190405</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22190405[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/10.18632/oncotarget.385" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22190405">Tatton-Brown et al. (2011)</a> noted that the mutations in 2 of these patients (R684C, <a href="/entry/601573#0004">601573.0004</a> and Y733X, <a href="/entry/601573#0005">601573.0005</a>) had also been detected as somatic mutations in CMML and myelofibrosis by <a href="#9" class="mim-tip-reference" title="Ernst, T., Chase, A. J., Score, J., Hidalgo-Curtis, C. E., Bryant, C., Jones, A. V., Waghorn, K., Zoi, K., Ross, F. M., Reiter, A., Hochhaus, A., Drexler, H. G., Duncombe, A., Cervantes, F., Oscier, D., Boultwood, J., Grand, F. H., Cross, N. C. <strong>Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders.</strong> Nature Genet. 42: 722-6, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20601953/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20601953</a>] [<a href="https://doi.org/10.1038/ng.621" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20601953">Ernst et al. (2010)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20601953+22190405" 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="#22" class="mim-tip-reference" title="Roussounis, S., Crawford, M. <strong>Siblings with the Weaver syndrome.</strong> J. Pediat. 102: 595-597, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6834195/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6834195</a>] [<a href="https://doi.org/10.1016/s0022-3476(83)80195-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6834195">Roussounis and Crawford (1983)</a> reported affected sibs. However, <a href="#4" class="mim-tip-reference" title="Cole, T. R. P., Dennis, N. R., Hughes, H. E. <strong>Weaver syndrome.</strong> J. Med. Genet. 29: 332-337, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1583661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1583661</a>] [<a href="https://doi.org/10.1136/jmg.29.5.332" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1583661">Cole et al. (1992)</a> reported on a follow-up of the surviving sib; chromosome analysis showed a 46,XX,5p- karyotype, indicating that this recognized chromosomal syndrome was the likely diagnosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1583661+6834195" 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 id="1" class="mim-anchor"></a>
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<a id="Ardinger1986" class="mim-anchor"></a>
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Ardinger, H. H., Hanson, J. W., Harrod, M. J. E., Cohen, M. M., Tibbles, J. A. R., Welch, J. P., Young-Wee, T., Sommer, A., Goldberg, R., Shprintzen, R. J., Sidoti, E. J., Leichtman, L. G., Hoyme, H. E.
|
|
<strong>Further delineation of Weaver syndrome.</strong>
|
|
J. Pediat. 108: 228-235, 1986.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2418189/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2418189</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2418189" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(86)80988-x" target="_blank">Full Text</a>]
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|
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Basel-Vanagaite, L.
|
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<strong>Acute lymphoblastic leukemia in Weaver syndrome.</strong>
|
|
Am. J. Med. Genet. 152A: 383-386, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20101679/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20101679</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20101679" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.33244" target="_blank">Full Text</a>]
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Beighton, P.
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<strong>Inherited Disorders of the Skeleton. (2nd ed.)</strong>
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London: Churchill Livingstone (pub.) 1988. P. 455.
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</div>
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Cole, T. R. P., Dennis, N. R., Hughes, H. E.
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<strong>Weaver syndrome.</strong>
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J. Med. Genet. 29: 332-337, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1583661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1583661</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1583661" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.29.5.332" target="_blank">Full Text</a>]
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<strong>Growing interest in overgrowth.</strong>
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Arch. Dis. Child. 78: 200-204, 1998.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9613346/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9613346</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9613346" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Dawood, A. A.
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<strong>Weaver's syndrome--primordial excessive growth velocity: a case report.</strong>
|
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S. Afr. Med. J. 67: 646-648, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3983749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3983749</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3983749" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Derry, C., Temple, I. K., Venkat-Raman, K.
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<strong>A probable case of familial Weaver syndrome associated with neoplasia.</strong>
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J. Med. Genet. 36: 725-728, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10507738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10507738</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10507738" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Dumic, M., Vukovic, J., Cvitkovic, M., Medica, I.
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<strong>Twins and their mildly affected mother with Weaver syndrome.</strong>
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Clin. Genet. 44: 338-340, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8131308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8131308</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8131308" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1993.tb03912.x" target="_blank">Full Text</a>]
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Ernst, T., Chase, A. J., Score, J., Hidalgo-Curtis, C. E., Bryant, C., Jones, A. V., Waghorn, K., Zoi, K., Ross, F. M., Reiter, A., Hochhaus, A., Drexler, H. G., Duncombe, A., Cervantes, F., Oscier, D., Boultwood, J., Grand, F. H., Cross, N. C.
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<strong>Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders.</strong>
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Nature Genet. 42: 722-6, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20601953/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20601953</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20601953" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.621" target="_blank">Full Text</a>]
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Fitch, N.
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<strong>Update on the Marshall-Smith-Weaver controversy. (Letter)</strong>
|
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Am. J. Med. Genet. 20: 559-562, 1985.
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3993681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3993681</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3993681" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.1320200318" target="_blank">Full Text</a>]
|
|
|
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|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Freeman1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Freeman, B. M., Breiter, S. N., Hoon, A. H., Jr., Hamosh, A.
|
|
<strong>Pachygyria in Weaver syndrome. (Letter)</strong>
|
|
Am. J. Med. Genet. 86: 395-397, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10494098/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10494098</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10494098" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
|
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|
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</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Fryer1997" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Fryer, A., Smith, C., Rosenbloom, L., Cole, T.
|
|
<strong>Autosomal dominant inheritance of Weaver syndrome.</strong>
|
|
J. Med. Genet. 34: 418-419, 1997.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9152841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9152841</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9152841" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.34.5.418" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Gemme1980" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gemme, G., Bonioli, E., Ruffa, G., Lagorio, V.
|
|
<strong>The Weaver-Smith syndrome.</strong>
|
|
J. Pediat. 97: 962-964, 1980.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7441429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7441429</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7441429" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
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[<a href="https://doi.org/10.1016/s0022-3476(80)80436-7" target="_blank">Full Text</a>]
|
|
|
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|
</p>
|
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Gibson2012" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gibson, W. T., Hood, R. L., Zhan, S. H., Bulman, D. E., Fejes, A. P., Moore, R., Mungall, A. J., Eydoux, P., Babul-Hirji, R., An, J., Marra, M. A., FORGE Canada Consortium, Chitayat, D., Boycott, K. M., Weaver, D. D., Jones, S. J. M.
|
|
<strong>Mutations in EZH2 cause Weaver syndrome.</strong>
|
|
Am. J. Hum. Genet. 90: 110-118, 2012.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22177091/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22177091</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22177091[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22177091" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
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|
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[<a href="https://doi.org/10.1016/j.ajhg.2011.11.018" target="_blank">Full Text</a>]
|
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|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Greenberg1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Greenberg, F., Wasiewski, W., McCabe, E. R. B.
|
|
<strong>Weaver syndrome: the changing phenotype in an adult.</strong>
|
|
Am. J. Med. Genet. 33: 127-129, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2750780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2750780</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2750780" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.1320330120" target="_blank">Full Text</a>]
|
|
|
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|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Hall1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hall, B. D.
|
|
<strong>Weaver syndrome: expanded natural history.</strong>
|
|
Prog. Clin. Biol. Res. 200: 123-144, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4080734/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4080734</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4080734" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
|
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|
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</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Kelly2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kelly, T. E., Alford, B. A., Abel, M.
|
|
<strong>Cervical spine anomalies and tumors in Weaver syndrome.</strong>
|
|
Am. J. Med. Genet. 95: 492-495, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11146472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11146472</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11146472" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/1096-8628(20001218)95:5<492::aid-ajmg15>3.0.co;2-t" target="_blank">Full Text</a>]
|
|
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|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Khosravi2011" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Khosravi, M., Weaver, D. D., Christensen, D., McCandless, D.
|
|
<strong>Criteria for the diagnosis of the Weaver syndrome.</strong>
|
|
Proc. Greenwood Genet. Center 20: 125-126, 2011.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Makishima2010" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Makishima, H., Jankowska, A. M., Tiu, R. V., Szpurka, H., Sugimoto, Y., Hu, Z., Saunthararajah, Y., Guinta, K., Keddache, M. A., Putnam, P., Sekeres, M. A., Moliterno, A. R., List, A. F., McDevitt, M. A., Maciejewski, J. P.
|
|
<strong>Novel homo- and hemizygous mutations in EZH2 in myeloid malignancies.</strong>
|
|
Leukemia 24: 1799-1804, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20724984/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20724984</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20724984" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/leu.2010.167" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Opitz1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Opitz, J. M., Weaver, D. W., Reynolds, J. F., Jr.
|
|
<strong>The syndromes of Sotos and Weaver: reports and review.</strong>
|
|
Am. J. Med. Genet. 79: 294-304, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9781911/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9781911</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9781911" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/(sici)1096-8628(19981002)79:4<294::aid-ajmg12>3.0.co;2-m" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
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|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Proud1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Proud, V. K., Braddock, S. R., Cook, L., Weaver, D. D.
|
|
<strong>Weaver syndrome: autosomal dominant inheritance of the disorder.</strong>
|
|
Am. J. Med. Genet. 79: 305-310, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9781912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9781912</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9781912" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/(sici)1096-8628(19981002)79:4<305::aid-ajmg13>3.0.co;2-v" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Roussounis1983" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Roussounis, S., Crawford, M.
|
|
<strong>Siblings with the Weaver syndrome.</strong>
|
|
J. Pediat. 102: 595-597, 1983.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6834195/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6834195</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6834195" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0022-3476(83)80195-4" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Stoll1985" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Stoll, C., Talon, P., Mengus, L., Roth, M. P., Dott, B.
|
|
<strong>A Weaver-like syndrome with endocrinological abnormalities in a boy and his mother.</strong>
|
|
Clin. Genet. 28: 255-259, 1985.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4064364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4064364</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4064364" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1111/j.1399-0004.1985.tb00396.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Tatton-Brown2011" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Tatton-Brown, K., Hanks, S., Ruark, E., Zachariou, A., Del Vecchio Duarte, S., Ramsay, E., Snape, K., Murray, A., Perdeaux, E. R., Seal, S., Loveday, C., Banka, S., and 16 others.
|
|
<strong>Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.</strong>
|
|
Oncotarget 2: 1127-33, 2011. Note: Erratum: Oncotarget 9: 36719 only, 2018.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22190405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22190405</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22190405[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22190405" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.18632/oncotarget.385" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Teebi1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Teebi, A. S., Sundareshan, T. S., Hammouri, M. Y., Al-Awadi, S. A., Al-Saleh, Q. A.
|
|
<strong>A new autosomal recessive disorder resembling Weaver syndrome.</strong>
|
|
Am. J. Med. Genet. 33: 479-482, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2596508/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2596508</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2596508" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.1320330413" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Weaver1974" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Weaver, D. D., Graham, C. B., Thomas, I. T., Smith, D. W.
|
|
<strong>A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly.</strong>
|
|
J. Pediat. 84: 547-552, 1974.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4366187/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4366187</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4366187" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0022-3476(74)80675-x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Weisswichert1981" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Weisswichert, P. H., Knapp, G., Willich, E.
|
|
<strong>Accelerated bone maturation syndrome of the Weaver type.</strong>
|
|
Europ. J. Pediat. 137: 329-333, 1981.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7318847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7318847</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7318847" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
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[<a href="https://doi.org/10.1007/BF00443267" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
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Sonja A. Rasmussen - updated : 08/11/2022
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Marla J. F. O'Neill - updated : 5/2/2013<br>Marla J. F. O'Neill - updated : 1/10/2012<br>Victor A. McKusick - updated : 1/22/2003<br>Victor A. McKusick - updated : 12/19/2000<br>Michael J. Wright - updated : 12/16/1999<br>Victor A. McKusick - updated : 10/28/1999<br>Victor A. McKusick - updated : 10/28/1998<br>Michael J. Wright - updated : 7/3/1997
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 9/21/1989
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carol : 08/21/2024
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carol : 04/23/2024<br>carol : 01/21/2023<br>carol : 08/11/2022<br>carol : 08/25/2021<br>carol : 07/29/2021<br>carol : 02/21/2020<br>carol : 07/11/2017<br>alopez : 09/19/2016<br>carol : 07/09/2016<br>carol : 4/27/2015<br>carol : 5/2/2013<br>carol : 8/7/2012<br>terry : 1/20/2012<br>carol : 1/10/2012<br>carol : 1/10/2012<br>terry : 5/12/2010<br>joanna : 2/26/2007<br>tkritzer : 1/24/2003<br>terry : 1/22/2003<br>terry : 12/19/2000<br>alopez : 12/16/1999<br>alopez : 12/16/1999<br>carol : 11/3/1999<br>terry : 10/28/1999<br>carol : 11/4/1998<br>terry : 10/28/1998<br>alopez : 8/28/1997<br>alopez : 8/7/1997<br>davew : 8/3/1994<br>terry : 4/29/1994<br>mimadm : 3/12/1994<br>carol : 2/18/1994<br>carol : 6/25/1992<br>carol : 6/23/1992
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<span class="mim-font">
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<strong>#</strong> 277590
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WEAVER SYNDROME; WVS
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<em>Alternative titles; symbols</em>
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WEAVER-SMITH SYNDROME; WSS
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<strong>SNOMEDCT:</strong> 63119004;
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<strong>ICD10CM:</strong> Q87.3;
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<strong>ORPHA:</strong> 3447;
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<strong>DO:</strong> 14731;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus <br /> MIM number
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7q36.1
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Weaver syndrome
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277590
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Autosomal dominant
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3
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EZH2
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601573
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Weaver syndrome (WVS) is caused by heterozygous mutation in the EZH2 gene (601573) on chromosome 7q36.</p>
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<strong>Description</strong>
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<p>Weaver syndrome (WVS) comprises pre- and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay. Most cases are sporadic, although autosomal dominant inheritance has been reported. Although there is phenotypic overlap between Weaver syndrome and Sotos syndrome (117550), distinguishing features of Weaver syndrome include broad forehead and face, ocular hypertelorism, prominent wide philtrum, micrognathia, deep horizontal chin groove, and deep-set nails. In addition, carpal bone development is advanced over the rest of the hand in Weaver syndrome, whereas in Sotos syndrome carpal bone development is at or behind that of the rest of the hand (summary by Basel-Vanagaite, 2010). </p><p>Sotos syndrome (117550), which shows considerable phenotypic overlap with Weaver syndrome, is caused by mutation in the NSD1 gene (601573) on chromosome 5q35. Other 'Weaver-like' syndromes include Cohen-Gibson syndrome (COGIS; 617561), caused by heterozygous mutation in the EED gene (605984) on chromosome 11q14; and Imagawa-Matsumoto syndrome (IMMAS; 618786), caused by heterozygous mutation in the SUZ12 gene (606245) on chromosome 17q11.</p><p>The 'Weaver-like' syndrome reported by Stoll et al. (1985) in a mother and son may be a separate entity. </p>
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<strong>Clinical Features</strong>
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<p>Weaver et al. (1974) described 2 'strikingly similar' unrelated male infants who had accelerated growth and osseous maturation, unusual craniofacial appearance, hoarse and low-pitched cry, and hypertonia with camptodactyly. Dysmorphic facial features included large bifrontal diameter, flat occiput, large ears, ocular hypertelorism, long philtrum, and relative micrognathia. Reports by Gemme et al. (1980), Weisswichert et al. (1981), Hall (1985), and Ardinger et al. (1986) suggested that Weaver syndrome is a distinct entity. Other features included psychomotor delay, looseness of skin, and hernias. </p><p>Dawood (1985) reported a patient whose case was also pictured by Beighton (1988). The child weighed 10.2 kg at birth and had large ears, long philtrum, and protuberant lower lip, as well as an umbilical hernia and excessive skin folds. At the age of 14 months, he weighed 30 kg, and progressive thoracolumbar kyphosis associated with platyspondyly and vertebral wedging had developed. </p><p>Teebi et al. (1989) noted that most of the approximately 21 cases reported after the original article by Weaver et al. (1974) were sporadic, and that because the diagnosis in all cases has not been considered completely certain (see Fitch, 1985), it was difficult to draw any definite conclusions about a possible genetic basis. Teebi et al. (1989) described a brother and sister, born to consanguineous Bedouin parents, who manifested features resembling those of Weaver syndrome. Both had accelerated growth of prenatal onset, hypotonia, psychomotor retardation, excess loose skin, peculiar craniofacial and acral anomalies, dental dysplasia and/or serrated gums, joint laxity, and hoarse, low-pitched cry. One of them had accelerated harmonic skeletal maturation. The acral anomalies included short fifth digit with clinodactyly V. However, Cole et al. (1992) questioned that either case reported by Teebi et al. (1989) had the Weaver-Smith syndrome. The younger sib did not exhibit accelerated growth and had delayed bone maturation at the age of 13 months. </p><p>Greenberg et al. (1989) described a patient with presumed Weaver syndrome who was followed for more than 20 years. At the age of 25, her height (187 cm), as well as her weight and head circumference, was above the 98th centile. </p><p>Cole et al. (1992) presented the details of 4 new cases of Weaver-Smith syndrome and reviewed the published reports. They suggested that in the early years of life the facial features are characteristic; despite retrognathia, the chin is distinctive and may be dimpled. Bone age is advanced. Cole et al. (1992) pointed out that Weaver syndrome may be difficult to differentiate from Sotos syndrome (117550), but early photographs may be distinguishing because there is likely to be a longer face and jaw in Sotos syndrome than in WVS. </p><p>Dumic et al. (1993) described unlike-sex twins with this disorder, thought to be in classic form, and their mildly affected mother. They suggested autosomal dominant inheritance. The twins showed overgrowth, macrocephaly, and unusual facial features. The mother showed macrocephaly, long philtrum, hoarse voice, large ears, and hyperextensibility of the fingers--all features found in both twins. All 3 showed palmar and plantar hyperhidrosis, and the twins showed nail dysplasia. Fryer et al. (1997) questioned the certainty of the diagnosis in the cases described by Dumic et al. (1993), but provided further evidence for autosomal dominant inheritance by describing an affected father and daughter. The daughter had accelerated growth, advanced bone age, characteristic facial features, flat, deep-set nails, and developmental delay. The father had had accelerated growth in childhood and exhibited macrocephaly, large hands, deep-set nails, and facial features similar to those of his daughter. </p><p>Opitz et al. (1998) reported affected mother and daughter. The mother was described as a large infant and 'as tall as her teacher in school.' Her adult height was 185.4 cm, and she had mandibular prognathism and a prominent pointed chin. The daughter showed a prominent forehead with sparseness of frontal hair and a 'ruddy' or flushed complexion, especially of the nose and perioral area. She had prominent features of the congenital hypotonia/lymphedema sequence with hypermobile joints, especially at the knees and ankles, lymphedema nails (especially toenails), and a high total ridge count (TRC) of the fingertip dermatoglyphics. The mother also had a high TRC and a receding frontal hairline. </p><p>Proud et al. (1998) noted that although there had been 3 reports of close relatives (sibs or both parent and offspring) affected with Weaver syndrome, the disorder generally occurs sporadically, and the recurrence risk in sporadic cases appears to be low. Proud et al. (1998) reported a family in which the propositus and his sister were born with the facial phenotype, clubfeet, and macrosomia characteristic of Weaver syndrome. Their father had macrosomia and macrocephaly as an adult, and childhood photos showed clearly that he had Weaver syndrome. Two sisters of the propositus had normal growth and development. Proud et al. (1998) advanced this family as an example of autosomal dominant inheritance. The father was 193 cm tall and weighed 124.1 kg. The occipital-frontal circumference was 62.8 cm (+5 SD). The hands measured large. At birth the propositus was noted to have macrocephaly, ocular hypertelorism, downslanting palpebral fissures, micrognathia, finger contractures, and dislocated left hip in addition to bilateral talipes equinovarus. </p><p>Freeman et al. (1999) described pachygyria in an infant thought to have Weaver syndrome. </p><p>Derry et al. (1999) reported a mother and son with probable Weaver syndrome. The mother had developed an ovarian endodermal sinus tumor at the age of 17 years. Derry et al. (1999) pointed out the association of other overgrowth syndromes with neoplasia. </p><p>Kelly et al. (2000) described half brothers with Weaver syndrome whose father had essentially normal physical findings apart from tall stature, but who, like his sons, had cervical spine anomalies. Although these anomalies are variable, they may represent a consistent radiographic finding in Weaver syndrome that can aid in the diagnosis of affected adults. One of the brothers had a sacrococcygeal teratoma that was resected at birth; the authors stated that he represented the third reported patient with Weaver syndrome and neoplasia. </p><p>Basel-Vanagaite (2010) described a 4.5-year-old girl with 'typical' Weaver syndrome, born of nonconsanguineous Jewish parents, who developed acute lymphoblastic leukemia. She exhibited speech and motor delays, with relatively normal cognitive abilities, and had a hoarse voice. Examination revealed somewhat sparse hair, broad forehead, broad straight eyebrows, hypertelorism, prominent wide philtrum, wide cupid bow, mild micrognathia, broad face and neck, fleshy earlobes, sloping shoulders, broad thumbs, deep-set and narrow nails, loose palmar skin, and mild hypertrichosis. Her hands and feet were large, and she had mild scoliosis and joint hyperlaxity. Neurologic, eye, and hearing findings were normal. At the chronologic age of 4.3 years, carpal bone age was compatible with 7.8 years, whereas the distal radial and ulnar epiphyses were compatible with a bone age of 5.75 years. At 4.3 years of age, evaluation of severe back pain with vertebral changes resulted in a diagnosis of acute lymphoblastic leukemia. Microarray analysis and sequencing of the NSD1 gene (601573) were negative. Basel-Vanagaite (2010) stated that tumors or hematologic malignancy in Weaver syndrome had previously been reported in 6 patients, for an overall frequency of approximately 11%, but noted that this was likely to be an overestimate, biased by failure to report cases without tumors and overreporting of cases with this rare association. </p><p>Gibson et al. (2012) provided follow-up on 'patient 1,' the 18-month-old male infant originally reported by Weaver et al. (1974), then 30 years of age, and described 2 additional unrelated patients with Weaver syndrome, 11-year-old and 19-year-old females. Features shared by all 3 patients included excessive growth of prenatal onset, accelerated osseous maturation, hoarse low-pitched cry, mild intellectual disability, poor fine motor coordination, poor balance and gravitational insecurity, macrocephaly, large bifrontal diameter, large ears, downslanting palpebral fissures, long philtrum, retrognathia, prominent digit pads, thin deep-set nails, umbilical hernia, and 10- to 20-degree scoliosis. </p>
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<strong>Diagnosis</strong>
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<p>There has been considerable debate whether Sotos and Weaver syndromes are representative of locus or allelic heterogeneity (Cole, 1998; Opitz et al., 1998). The facial appearance is somewhat similar in the 2 disorders, but experienced dysmorphologists believe they are distinct. Clinical features occurring in Weaver syndrome include a hoarse low-pitched cry, metaphyseal flaring of the femurs, deep-set nails, prominent fingertip pads, and camptodactyly. </p><p>Opitz et al. (1998) discussed the differentiation of the 2 overgrowth syndromes, that of Sotos and that of Weaver, and the question of whether the similarities are sufficient to consider them 1 entity. Possible phenotypic differences between the 2 syndromes pointed out by Opitz et al. (1998) were the following: the Sotos syndrome may be a cancer syndrome, whereas the Weaver syndrome is not (although a neuroblastoma had been reported in the latter disorder). In Sotos syndrome there is remarkably advanced dental maturation; this is rarely commented on in Weaver syndrome. In Weaver syndrome, there are more conspicuous contractures and a facial appearance that experts find convincingly different from that in Sotos syndrome. Opitz et al. (1998) favored allelic heterogeneity as the explanation for the similarities between Sotos and Weaver syndromes. They suggested that mapping and isolation of the causative gene or genes would settle the issue. </p><p>Based on a review of 34 reported patients with unequivocal Weaver syndrome, Khosravi et al. (2011) suggested that a diagnosis of Weaver syndrome should include at least 8 of the following 10 features: excessive postnatal growth, macrocephaly, increased bifrontal diameter, ocular hypertelorism, prominent and/or long philtrum, micrognathia, large ears, hoarse and/or low pitched cry, advanced general and carpal osseous maturation, and broad metaphyses.</p><p>Gibson et al. (2012) stated that features distinguishing Weaver syndrome from Sotos syndrome include retrognathia with a prominent chin crease, sometimes described as a 'stuck-on chin,' increased prenatal growth, and a carpal bone age that is greatly advanced compared to metacarpal and phalangeal age. </p>
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<strong>Inheritance</strong>
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<p>The heterozygous mutations in the EZH2 gene that were identified in patients with Weaver syndrome by Gibson et al. (2012) occurred de novo. </p><p>The heterozygous mutations in the EZH2 gene that were identified in 4 patients with Weaver syndrome by Tatton-Brown et al. (2011) were confirmed to have occurred de novo in 3 patients; DNA from both parents was not available for the fourth patient. </p>
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<strong>Molecular Genetics</strong>
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<p>Gibson et al. (2012) performed exome sequencing in 2 unrelated patients with Weaver syndrome, including 1 of the patients originally described by Weaver et al. (1974), and their 4 unaffected parents. In both patients, heterozygous de novo mutations were identified in the EZH2 gene (Y153del, 601573.0001 and H694Y, 601573.0002, respectively); the presence of the mutations and their de novo status were confirmed by Sanger sequencing. Sequencing of EZH2 in a third patient with Weaver syndrome revealed heterozygosity for another de novo missense mutation (P132S; 601573.0003). Gibson et al. (2012) noted that a somatic mutation at his694 had previously been found in chronic myelomonocytic leukemia (CMML), as well as mutations in nearby residues at positions 690 and 693 in other hematologic malignancies (Makishima et al., 2010). Given that patients with Weaver syndrome had been reported to develop tumors or malignancies, including acute lymphoblastic leukemia, Gibson et al. (2012) suggested that constitutive EZH2 mutations might confer a mild predisposition to malignancy. </p><p>In 4 patients with classic features of Weaver syndrome, Tatton-Brown et al. (2011) identified heterozygous mutations in the EZH2 gene (see, e.g., 601573.0004-601573.0006). The mutations, which were found by whole-exome sequencing and confirmed by Sanger sequencing, were not present in 7 parental samples available for study, establishing that the mutations were de novo in at least 3 of the patients. Tatton-Brown et al. (2011) noted that the mutations in 2 of these patients (R684C, 601573.0004 and Y733X, 601573.0005) had also been detected as somatic mutations in CMML and myelofibrosis by Ernst et al. (2010). </p>
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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>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>Roussounis and Crawford (1983) reported affected sibs. However, Cole et al. (1992) reported on a follow-up of the surviving sib; chromosome analysis showed a 46,XX,5p- karyotype, indicating that this recognized chromosomal syndrome was the likely diagnosis. </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>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Ardinger, H. H., Hanson, J. W., Harrod, M. J. E., Cohen, M. M., Tibbles, J. A. R., Welch, J. P., Young-Wee, T., Sommer, A., Goldberg, R., Shprintzen, R. J., Sidoti, E. J., Leichtman, L. G., Hoyme, H. E.
|
|
<strong>Further delineation of Weaver syndrome.</strong>
|
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J. Pediat. 108: 228-235, 1986.
|
|
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|
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|
[PubMed: 2418189]
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[Full Text: https://doi.org/10.1016/s0022-3476(86)80988-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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Basel-Vanagaite, L.
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<strong>Acute lymphoblastic leukemia in Weaver syndrome.</strong>
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Am. J. Med. Genet. 152A: 383-386, 2010.
|
|
|
|
|
|
[PubMed: 20101679]
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|
|
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[Full Text: https://doi.org/10.1002/ajmg.a.33244]
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</p>
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</li>
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|
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<li>
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<p class="mim-text-font">
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Beighton, P.
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<strong>Inherited Disorders of the Skeleton. (2nd ed.)</strong>
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London: Churchill Livingstone (pub.) 1988. P. 455.
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</p>
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</li>
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|
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<li>
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<p class="mim-text-font">
|
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Cole, T. R. P., Dennis, N. R., Hughes, H. E.
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<strong>Weaver syndrome.</strong>
|
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J. Med. Genet. 29: 332-337, 1992.
|
|
|
|
|
|
[PubMed: 1583661]
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|
|
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[Full Text: https://doi.org/10.1136/jmg.29.5.332]
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</p>
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</li>
|
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|
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<li>
|
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<p class="mim-text-font">
|
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Cole, T.
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<strong>Growing interest in overgrowth.</strong>
|
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Arch. Dis. Child. 78: 200-204, 1998.
|
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|
|
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[PubMed: 9613346]
|
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|
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[Full Text: https://doi.org/10.1136/adc.78.3.200]
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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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Dawood, A. A.
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<strong>Weaver's syndrome--primordial excessive growth velocity: a case report.</strong>
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S. Afr. Med. J. 67: 646-648, 1985.
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|
|
|
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[PubMed: 3983749]
|
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|
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</p>
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</li>
|
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|
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<li>
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<p class="mim-text-font">
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Derry, C., Temple, I. K., Venkat-Raman, K.
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<strong>A probable case of familial Weaver syndrome associated with neoplasia.</strong>
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J. Med. Genet. 36: 725-728, 1999.
|
|
|
|
|
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[PubMed: 10507738]
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|
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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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Dumic, M., Vukovic, J., Cvitkovic, M., Medica, I.
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<strong>Twins and their mildly affected mother with Weaver syndrome.</strong>
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Clin. Genet. 44: 338-340, 1993.
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[PubMed: 8131308]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1993.tb03912.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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Ernst, T., Chase, A. J., Score, J., Hidalgo-Curtis, C. E., Bryant, C., Jones, A. V., Waghorn, K., Zoi, K., Ross, F. M., Reiter, A., Hochhaus, A., Drexler, H. G., Duncombe, A., Cervantes, F., Oscier, D., Boultwood, J., Grand, F. H., Cross, N. C.
|
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<strong>Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders.</strong>
|
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Nature Genet. 42: 722-6, 2010.
|
|
|
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|
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[PubMed: 20601953]
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[Full Text: https://doi.org/10.1038/ng.621]
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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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Fitch, N.
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<strong>Update on the Marshall-Smith-Weaver controversy. (Letter)</strong>
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Am. J. Med. Genet. 20: 559-562, 1985.
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[PubMed: 3993681]
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[Full Text: https://doi.org/10.1002/ajmg.1320200318]
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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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Freeman, B. M., Breiter, S. N., Hoon, A. H., Jr., Hamosh, A.
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<strong>Pachygyria in Weaver syndrome. (Letter)</strong>
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Am. J. Med. Genet. 86: 395-397, 1999.
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[PubMed: 10494098]
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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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Fryer, A., Smith, C., Rosenbloom, L., Cole, T.
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<strong>Autosomal dominant inheritance of Weaver syndrome.</strong>
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J. Med. Genet. 34: 418-419, 1997.
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[PubMed: 9152841]
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[Full Text: https://doi.org/10.1136/jmg.34.5.418]
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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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Gemme, G., Bonioli, E., Ruffa, G., Lagorio, V.
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<strong>The Weaver-Smith syndrome.</strong>
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J. Pediat. 97: 962-964, 1980.
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[PubMed: 7441429]
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[Full Text: https://doi.org/10.1016/s0022-3476(80)80436-7]
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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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Gibson, W. T., Hood, R. L., Zhan, S. H., Bulman, D. E., Fejes, A. P., Moore, R., Mungall, A. J., Eydoux, P., Babul-Hirji, R., An, J., Marra, M. A., FORGE Canada Consortium, Chitayat, D., Boycott, K. M., Weaver, D. D., Jones, S. J. M.
|
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<strong>Mutations in EZH2 cause Weaver syndrome.</strong>
|
|
Am. J. Hum. Genet. 90: 110-118, 2012.
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[PubMed: 22177091]
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[Full Text: https://doi.org/10.1016/j.ajhg.2011.11.018]
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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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Greenberg, F., Wasiewski, W., McCabe, E. R. B.
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<strong>Weaver syndrome: the changing phenotype in an adult.</strong>
|
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Am. J. Med. Genet. 33: 127-129, 1989.
|
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[PubMed: 2750780]
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[Full Text: https://doi.org/10.1002/ajmg.1320330120]
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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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Hall, B. D.
|
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<strong>Weaver syndrome: expanded natural history.</strong>
|
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Prog. Clin. Biol. Res. 200: 123-144, 1985.
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|
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[PubMed: 4080734]
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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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Kelly, T. E., Alford, B. A., Abel, M.
|
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<strong>Cervical spine anomalies and tumors in Weaver syndrome.</strong>
|
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Am. J. Med. Genet. 95: 492-495, 2000.
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[PubMed: 11146472]
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[Full Text: https://doi.org/10.1002/1096-8628(20001218)95:5<492::aid-ajmg15>3.0.co;2-t]
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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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Khosravi, M., Weaver, D. D., Christensen, D., McCandless, D.
|
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<strong>Criteria for the diagnosis of the Weaver syndrome.</strong>
|
|
Proc. Greenwood Genet. Center 20: 125-126, 2011.
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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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Makishima, H., Jankowska, A. M., Tiu, R. V., Szpurka, H., Sugimoto, Y., Hu, Z., Saunthararajah, Y., Guinta, K., Keddache, M. A., Putnam, P., Sekeres, M. A., Moliterno, A. R., List, A. F., McDevitt, M. A., Maciejewski, J. P.
|
|
<strong>Novel homo- and hemizygous mutations in EZH2 in myeloid malignancies.</strong>
|
|
Leukemia 24: 1799-1804, 2010.
|
|
|
|
|
|
[PubMed: 20724984]
|
|
|
|
|
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[Full Text: https://doi.org/10.1038/leu.2010.167]
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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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Opitz, J. M., Weaver, D. W., Reynolds, J. F., Jr.
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<strong>The syndromes of Sotos and Weaver: reports and review.</strong>
|
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Am. J. Med. Genet. 79: 294-304, 1998.
|
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|
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[PubMed: 9781911]
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[Full Text: https://doi.org/10.1002/(sici)1096-8628(19981002)79:4<294::aid-ajmg12>3.0.co;2-m]
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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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Proud, V. K., Braddock, S. R., Cook, L., Weaver, D. D.
|
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<strong>Weaver syndrome: autosomal dominant inheritance of the disorder.</strong>
|
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Am. J. Med. Genet. 79: 305-310, 1998.
|
|
|
|
|
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[PubMed: 9781912]
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|
|
|
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[Full Text: https://doi.org/10.1002/(sici)1096-8628(19981002)79:4<305::aid-ajmg13>3.0.co;2-v]
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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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Roussounis, S., Crawford, M.
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<strong>Siblings with the Weaver syndrome.</strong>
|
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J. Pediat. 102: 595-597, 1983.
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[PubMed: 6834195]
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[Full Text: https://doi.org/10.1016/s0022-3476(83)80195-4]
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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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Stoll, C., Talon, P., Mengus, L., Roth, M. P., Dott, B.
|
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<strong>A Weaver-like syndrome with endocrinological abnormalities in a boy and his mother.</strong>
|
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Clin. Genet. 28: 255-259, 1985.
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[PubMed: 4064364]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1985.tb00396.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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Tatton-Brown, K., Hanks, S., Ruark, E., Zachariou, A., Del Vecchio Duarte, S., Ramsay, E., Snape, K., Murray, A., Perdeaux, E. R., Seal, S., Loveday, C., Banka, S., and 16 others.
|
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<strong>Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.</strong>
|
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Oncotarget 2: 1127-33, 2011. Note: Erratum: Oncotarget 9: 36719 only, 2018.
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[PubMed: 22190405]
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[Full Text: https://doi.org/10.18632/oncotarget.385]
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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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Teebi, A. S., Sundareshan, T. S., Hammouri, M. Y., Al-Awadi, S. A., Al-Saleh, Q. A.
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<strong>A new autosomal recessive disorder resembling Weaver syndrome.</strong>
|
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Am. J. Med. Genet. 33: 479-482, 1989.
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[PubMed: 2596508]
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[Full Text: https://doi.org/10.1002/ajmg.1320330413]
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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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Weaver, D. D., Graham, C. B., Thomas, I. T., Smith, D. W.
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<strong>A new overgrowth syndrome with accelerated skeletal maturation, unusual facies, and camptodactyly.</strong>
|
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J. Pediat. 84: 547-552, 1974.
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[PubMed: 4366187]
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[Full Text: https://doi.org/10.1016/s0022-3476(74)80675-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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Weisswichert, P. H., Knapp, G., Willich, E.
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<strong>Accelerated bone maturation syndrome of the Weaver type.</strong>
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Europ. J. Pediat. 137: 329-333, 1981.
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[PubMed: 7318847]
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[Full Text: https://doi.org/10.1007/BF00443267]
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</p>
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</li>
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</ol>
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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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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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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>
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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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Sonja A. Rasmussen - updated : 08/11/2022<br>Marla J. F. O'Neill - updated : 5/2/2013<br>Marla J. F. O'Neill - updated : 1/10/2012<br>Victor A. McKusick - updated : 1/22/2003<br>Victor A. McKusick - updated : 12/19/2000<br>Michael J. Wright - updated : 12/16/1999<br>Victor A. McKusick - updated : 10/28/1999<br>Victor A. McKusick - updated : 10/28/1998<br>Michael J. Wright - updated : 7/3/1997
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</span>
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</div>
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</div>
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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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<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 : 9/21/1989
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<span class="text-nowrap mim-text-font">
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Edit History:
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carol : 08/21/2024<br>carol : 04/23/2024<br>carol : 01/21/2023<br>carol : 08/11/2022<br>carol : 08/25/2021<br>carol : 07/29/2021<br>carol : 02/21/2020<br>carol : 07/11/2017<br>alopez : 09/19/2016<br>carol : 07/09/2016<br>carol : 4/27/2015<br>carol : 5/2/2013<br>carol : 8/7/2012<br>terry : 1/20/2012<br>carol : 1/10/2012<br>carol : 1/10/2012<br>terry : 5/12/2010<br>joanna : 2/26/2007<br>tkritzer : 1/24/2003<br>terry : 1/22/2003<br>terry : 12/19/2000<br>alopez : 12/16/1999<br>alopez : 12/16/1999<br>carol : 11/3/1999<br>terry : 10/28/1999<br>carol : 11/4/1998<br>terry : 10/28/1998<br>alopez : 8/28/1997<br>alopez : 8/7/1997<br>davew : 8/3/1994<br>terry : 4/29/1994<br>mimadm : 3/12/1994<br>carol : 2/18/1994<br>carol : 6/25/1992<br>carol : 6/23/1992
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