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Entry
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- #603736 - OHDO SYNDROME, SBBYS VARIANT; SBBYSS
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- OMIM
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<span class="h4">#603736</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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<a href="/clinicalSynopsis/603736"><strong>Clinical Synopsis</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="#inheritance">Inheritance</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</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 style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</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=OHDO SYNDROME, SBBYS VARIANT" 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=2739&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/NBK114806/" 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/7589" 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/ohdo-syndrome-say-barber-biesecker-young-simpson-variant" 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=603736[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=3047" 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/a35fdee1-aedc-4a77-a006-d03b89789d78/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0060290" 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/603736" 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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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<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> 699298009<br />
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<strong>ORPHA:</strong> 3047<br />
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<strong>DO:</strong> 0060290<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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603736
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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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OHDO SYNDROME, SBBYS VARIANT; SBBYSS
|
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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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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
SAY-BARBER-BIESECKER-YOUNG-SIMPSON SYNDROME<br />
|
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YOUNG-SIMPSON SYNDROME; YSS
|
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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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</div>
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<div>
|
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</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>
|
|
<th>
|
|
Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
|
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/10/315?start=-3&limit=10&highlight=315">
|
|
10q22.2
|
|
</a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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SBBYSS syndrome
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/603736"> 603736 </a>
|
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</span>
|
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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KAT6B
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/605880"> 605880 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/603736" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
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<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')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/603736" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/603736" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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|
<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>
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<div>
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<p />
|
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
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|
- 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 />
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</span>
|
|
</div>
|
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|
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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> HEAD & NECK </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Head </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Microcephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551563</a>, <a href="https://bioportal.bioontology.org/search?q=C0025958&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025958</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Microcephaly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" 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 occiput <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853737&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853737</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000269" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000269</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000269" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000269</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=d867e4ba8355e423f813671a1ab548a5" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Occiput,Prominent-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=d867e4ba8355e423f813671a1ab548a5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Low-set ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95515009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95515009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239234&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239234</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000369</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000369</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Ear,Low-Set-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931" 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 /> -
|
|
Posteriorly angulated ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253251006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253251006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0431478&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0431478</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000358" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000358</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000358" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000358</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">
|
|
|
|
- Blepharophimosis <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/374.46" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.46</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005744&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005744</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000581</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000581</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0f0375071b81e81be36302aa011b44dc" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Blepharophimosis-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0f0375071b81e81be36302aa011b44dc" 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 /> -
|
|
Epicanthus inversus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/400956000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">400956000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1303003&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1303003</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000537</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000537</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nose </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Flat 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 /> -
|
|
Bulbous nose <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240543&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240543</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000414" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000414</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000414" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000414</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=50ff569bd76b9a6cd5dba7aabce89564" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Nose,Bulbous-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=50ff569bd76b9a6cd5dba7aabce89564" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Orofacial cleft <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/449790007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">449790007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3266076&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3266076</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000202" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000202</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000202" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000202</a>]</span><br /> -
|
|
Micrognathia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32958008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32958008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.04</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025990&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025990</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Micrognathia-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882" 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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<span class="h5 mim-font">
|
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<em> Teeth </em>
|
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</span>
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
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|
- Small teeth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32337007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32337007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K00.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K00.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240340&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240340</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000691" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000691</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000691" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000691</a>]</span><br /> -
|
|
Pointed teeth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4012359&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4012359</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000698" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000698</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> CARDIOVASCULAR </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> Heart </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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- Dilated cardiomyopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399020009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399020009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/195021004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">195021004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I42.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0007193&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007193</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001644" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001644</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001644" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001644</a>]</span><br /> -
|
|
Structural cardiac defects <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0741918&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0741918</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">
|
|
<strong> GENITOURINARY </strong>
|
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</span>
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Internal Genitalia (Male) </em>
|
|
</span>
|
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</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 />
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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">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Fifth-finger clinodactyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850049&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850049</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004209</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004209</a>]</span><br />
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|
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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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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Impaired intellectual development, mild to severe <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5194978&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5194978</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 /> -
|
|
Delayed motor milestones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854301&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854301</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span><br /> -
|
|
Impaired speech <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29164008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29164008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/162294008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">162294008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R47.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R47.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0233715&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0233715</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><br /> -
|
|
Hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br />
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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">
|
|
<strong> ENDOCRINE FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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<div>
|
|
<span class="mim-font">
|
|
|
|
- Hypothyroidism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40930008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40930008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E03.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E03.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/244.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">244.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020676&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020676</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000821" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000821</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000821" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000821</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
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<span class="mim-font">
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|
|
- Caused by mutation in the lysine acetyltransferase 6B gene (KAT6B, <a href="/entry/605880#0001">605880.0001</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 class="text-right">
|
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
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</div>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<p>A number sign (#) is used with this entry because the SBBYS variant of Ohdo syndrome is caused by heterozygous mutation in the KAT6B gene (<a href="/entry/605880">605880</a>) on chromosome 10q22.</p><p>Heterozygous mutation in the KAT6B can also cause genitopatellar syndrome (GTPTS; <a href="/entry/606170">606170</a>).</p>
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<div class="mim-changed mim-change"><p>Say-Barber-Biesecker-Young-Simpson syndrome, a variant of Ohdo syndrome (<a href="/entry/249620">249620</a>), is characterized by distinctive facial appearance with severe blepharophimosis, an immobile mask-like face, a bulbous nasal tip, and a small mouth with a thin upper lip. The condition presents in infancy with severe hypotonia and feeding problems. Associated skeletal problems include joint laxity, abnormally long thumbs and great toes, and dislocated or hypoplastic patellae. Structural cardiac defects are present in around 50% of cases, and dental anomalies, including small and pointed teeth, are common. Many affected individuals have abnormalities of thyroid structure or function. YSS is usually associated with severely impaired intellectual development, delayed motor milestones, and significantly impaired speech (summary by <a href="#4" class="mim-tip-reference" title="Clayton-Smith, J., O'Sullivan, J., Daly, S., Bhaskar, S., Day, R., Anderson, B., Voss, A. K., Thomas, T., Biesecker, L. G., Smith, P., Fryer, A., Chandler, K. E., and 13 others. <strong>Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.</strong> Am. J. Hum. Genet. 89: 675-681, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22077973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22077973</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22077973[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.2011.10.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22077973">Clayton-Smith et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22077973" 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></div>
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<p>Genitopatellar syndrome (<a href="/entry/606170">606170</a>) is an allelic disorder with overlapping features.</p>
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<p><a href="#15" class="mim-tip-reference" title="Young, I. D., Simpson, K. <strong>Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation.</strong> J. Med. Genet. 24: 715-716, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3430551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3430551</a>] [<a href="https://doi.org/10.1136/jmg.24.11.715" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3430551">Young and Simpson (1987)</a> described a girl with congenital heart defects, hypothyroidism, mental retardation, and facial dysmorphism, including blepharophimosis. Four additional patients with similar symptoms were reported (<a href="#6" class="mim-tip-reference" title="Fryns, J. P., Moerman, P. <strong>Unknown syndrome: abnormal facies, hypothyroidism and severe retardation: a second patient.</strong> J. Med. Genet. 25: 498-499, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3172145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3172145</a>] [<a href="https://doi.org/10.1136/jmg.25.7.498" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3172145">Fryns and Moerman, 1988</a>; <a href="#2" class="mim-tip-reference" title="Cavalcanti, D. P. <strong>Unknown syndrome: abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation: a third patient.</strong> J. Med. Genet. 26: 785-786, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2614801/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2614801</a>] [<a href="https://doi.org/10.1136/jmg.26.12.785" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2614801">Cavalcanti, 1989</a>; <a href="#1" class="mim-tip-reference" title="Bonthron, D. T., Barlow, K. M., Burt, A. M., Barr, D. G. D. <strong>Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome).</strong> J. Med. Genet. 30: 255-256, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8474111/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8474111</a>] [<a href="https://doi.org/10.1136/jmg.30.3.255" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8474111">Bonthron et al., 1993</a>; <a href="#10" class="mim-tip-reference" title="Nakamura, T., Noma, S. <strong>A Japanese boy with Young-Simpson syndrome.</strong> Acta Paediat. Jpn. 39: 472-474, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9316295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9316295</a>] [<a href="https://doi.org/10.1111/j.1442-200x.1997.tb03621.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9316295">Nakamura and Noma, 1997</a>). <a href="#9" class="mim-tip-reference" title="Masuno, M., Imaizumi, K., Okada, T., Adachi, M., Nishimura, G., Ishii, T., Tachibana, K., Kuroki, Y. <strong>Young-Simpson syndrome: further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation.</strong> Am. J. Med. Genet. 84: 8-11, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10213038/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10213038</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19990507)84:1<8::aid-ajmg2>3.0.co;2-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10213038">Masuno et al. (1999)</a> described a 5-year-old boy and a 7-year-old girl thought to have this syndrome. All 7 reported patients, including those of <a href="#9" class="mim-tip-reference" title="Masuno, M., Imaizumi, K., Okada, T., Adachi, M., Nishimura, G., Ishii, T., Tachibana, K., Kuroki, Y. <strong>Young-Simpson syndrome: further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation.</strong> Am. J. Med. Genet. 84: 8-11, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10213038/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10213038</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19990507)84:1<8::aid-ajmg2>3.0.co;2-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10213038">Masuno et al. (1999)</a>, were sporadic; however, autosomal recessive inheritance had been proposed because the parents of the patient reported by <a href="#1" class="mim-tip-reference" title="Bonthron, D. T., Barlow, K. M., Burt, A. M., Barr, D. G. D. <strong>Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome).</strong> J. Med. Genet. 30: 255-256, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8474111/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8474111</a>] [<a href="https://doi.org/10.1136/jmg.30.3.255" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8474111">Bonthron et al. (1993)</a> were consanguineous. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2614801+10213038+8474111+3430551+9316295+3172145" 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="Kondoh, T., Kinoshita, E., Moriuchi, H., Niikawa, N., Matsumoto, T., Masuno, M. <strong>Young-Simpson syndrome comprising transient hypothyroidism, normal growth, macular degeneration and torticollis. (Letter)</strong> Am. J. Med. Genet. 90: 85-86, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10602125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10602125</a>]" pmid="10602125">Kondoh et al. (2000)</a> reported a 7-year-old Japanese boy thought to have YSS. Thyroid dysfunction was less severe than that in the 7 previously reported patients. Furthermore, the patient had 4 previously undescribed manifestations: bilateral macular degeneration, torticollis, talipes equinovarus, and patella dislocation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10602125" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Szakszon, K., Berenyi, E., Jakab, A., Bessenyei, B., Balogh, E., Kobling, T., Szilvassy, J., Knegt, A. C., Olah, E. <strong>Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type: new findings with neuroimaging.</strong> Am. J. Med. Genet. 155A: 634-637, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21344633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21344633</a>] [<a href="https://doi.org/10.1002/ajmg.a.33837" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21344633">Szakszon et al. (2011)</a> described a female with SBBYS syndrome in whom diffusion tensor magnetic resonance imaging (MRI) and tractography of the brain showed inappropriate myelination and disturbed white matter integrity. A delayed myelination was visible in the pons, the anterior horn of the internal capsule, and the splenium of the corpus callosum. Diffusion tensor imaging revealed a circumscribed 6 to 8 mm area of decreased anisotropy in the frontal white matter adjacent to the frontal horn of the right ventricle. Fibertracking analysis identified disrupted tracts within this region particularly affecting the connections of the frontal cortex. Region of interest analysis on secondary diffusion images revealed decreased anisotropy and decreased longitudinal diffusivity in the frontal white matter of the right side compared to those of the left. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21344633" 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="Yates, T. M., Langley, C. L. M., DDD Study, Grozeva, D., Raymond, F. L., Johnson, D. S. <strong>Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum. (Letter)</strong> Clin. Genet. 95: 334-335, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30353918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30353918</a>] [<a href="https://doi.org/10.1111/cge.13456" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30353918">Yates et al. (2019)</a> reported 6 patients from a single family with a mild SBBYSS phenotype. All of the patients had developmental delay or impaired intellectual development, which was moderate in 1 patient and mild in the other 5. All patients had dysmorphic features including blepharophimosis and bulbous nose. Three patients had mildly downslanting palpebral fissures, and 3 had varying degrees of myopathic facies. The authors noted that this family provides further evidence of familial transmission of SBBYSS and that the phenotype might be underreported, particularly for milder phenotypes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30353918" 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 KAT6B gene that were identified in patients with SBBYSS by <a href="#13" class="mim-tip-reference" title="Szakszon, K., Salpietro, C., Kakar, N., Knegt, A. C., Olah, E., Dallapiccola, B., Borck, G. <strong>De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome.</strong> Am. J. Med. Genet. 161A: 884-888, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23436491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23436491</a>] [<a href="https://doi.org/10.1002/ajmg.a.35848" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23436491">Szakszon et al. (2013)</a> occurred de novo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23436491" 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 transmission pattern of SBBYSS in the family reported by <a href="#14" class="mim-tip-reference" title="Yates, T. M., Langley, C. L. M., DDD Study, Grozeva, D., Raymond, F. L., Johnson, D. S. <strong>Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum. (Letter)</strong> Clin. Genet. 95: 334-335, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30353918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30353918</a>] [<a href="https://doi.org/10.1111/cge.13456" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30353918">Yates et al. (2019)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30353918" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#8" class="mim-tip-reference" title="Lonardo, F., Lonardo, M. S., Acquaviva, F., Della Monica, M., Scarano, F., Scarano, G. <strong>Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome: lumping or splitting?</strong> Clin. Genet. 95: 253-261, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28857140/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28857140</a>] [<a href="https://doi.org/10.1111/cge.13127" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28857140">Lonardo et al. (2019)</a> discussed the issue of whether SBBYSS and genitopatellar syndrome, both caused by pathogenic heterozygous mutation in the KAT6B gene, should be considered the same or distinct conditions. They noted that whereas both phenotypes have several features in common, including global developmental delay/impaired intellectual development, hypotonia, genital abnormalities, patellar hypoplasia/agenesis, congenital heart defects, dental abnormalities, hearing loss, and thyroid anomalies, there are clinical features that could help to differentiate the disorders, the most notable being the facial features seen in patients with SBBYSS (i.e., mask-like facies, blepharophimosis, and ptosis). They did note, however, that the overlapping features may make it difficult to distinguish between the 2 disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28857140" 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="#11" class="mim-tip-reference" title="Robinson, D. M., Meagher, C. C., Orlowski, C. C., Lagoe, E. C., Fong, C.-T. <strong>Young-Simpson syndrome (YSS), a variant of del(1)(p36) syndrome?</strong> Am. J. Med. Genet. 146A: 1571-1574, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18470891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18470891</a>] [<a href="https://doi.org/10.1002/ajmg.a.32096" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18470891">Robinson et al. (2008)</a> described a girl with YSS who presented with the typical facial findings, global retardation, congenital hypothyroidism, and congenital dilated cardiomyopathy. This was the first case of YSS associated with dilated cardiomyopathy, which is commonly seen in patients with 1p36 monosomy (<a href="/entry/607872">607872</a>). CGH analysis showed a 1p36.3 deletion (encompassing approximately 5.5 Mb), a finding not previously reported in other YSS cases. <a href="#11" class="mim-tip-reference" title="Robinson, D. M., Meagher, C. C., Orlowski, C. C., Lagoe, E. C., Fong, C.-T. <strong>Young-Simpson syndrome (YSS), a variant of del(1)(p36) syndrome?</strong> Am. J. Med. Genet. 146A: 1571-1574, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18470891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18470891</a>] [<a href="https://doi.org/10.1002/ajmg.a.32096" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18470891">Robinson et al. (2008)</a> suggested that YSS is due to a deletion in the terminal region on the short arm of chromosome 1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18470891" 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="Clayton-Smith, J., O'Sullivan, J., Daly, S., Bhaskar, S., Day, R., Anderson, B., Voss, A. K., Thomas, T., Biesecker, L. G., Smith, P., Fryer, A., Chandler, K. E., and 13 others. <strong>Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.</strong> Am. J. Hum. Genet. 89: 675-681, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22077973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22077973</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22077973[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.2011.10.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22077973">Clayton-Smith et al. (2011)</a> described a patient (individual 17) with atypical SBBYSS syndrome who had a deletion of approximately 8.3 Mb at 1p36.21-p36.12 (chr1:13,339,380-21,692,325, NCBI36) and a duplication of approximately 1.3 Mb at 1p34 (chr1:34,572,912-35,949,096, NCBI36). This patient did not have a mutation in the KAT6B gene. <a href="#4" class="mim-tip-reference" title="Clayton-Smith, J., O'Sullivan, J., Daly, S., Bhaskar, S., Day, R., Anderson, B., Voss, A. K., Thomas, T., Biesecker, L. G., Smith, P., Fryer, A., Chandler, K. E., and 13 others. <strong>Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.</strong> Am. J. Hum. Genet. 89: 675-681, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22077973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22077973</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22077973[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.2011.10.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22077973">Clayton-Smith et al. (2011)</a> suggested that an atypical SBBYSS phenotype may have a separate genetic etiology. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22077973" 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="#4" class="mim-tip-reference" title="Clayton-Smith, J., O'Sullivan, J., Daly, S., Bhaskar, S., Day, R., Anderson, B., Voss, A. K., Thomas, T., Biesecker, L. G., Smith, P., Fryer, A., Chandler, K. E., and 13 others. <strong>Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.</strong> Am. J. Hum. Genet. 89: 675-681, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22077973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22077973</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22077973[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.2011.10.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22077973">Clayton-Smith et al. (2011)</a> studied a cohort of 19 patients with a presumed diagnosis of SBBYSS, in which 12 patients were considered to have typical features of the syndrome, 2 had suggestive but milder features, and 5 were classified as atypical. By whole-exome sequencing in 4 patients with typical features, <a href="#4" class="mim-tip-reference" title="Clayton-Smith, J., O'Sullivan, J., Daly, S., Bhaskar, S., Day, R., Anderson, B., Voss, A. K., Thomas, T., Biesecker, L. G., Smith, P., Fryer, A., Chandler, K. E., and 13 others. <strong>Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.</strong> Am. J. Hum. Genet. 89: 675-681, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22077973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22077973</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22077973[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.2011.10.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22077973">Clayton-Smith et al. (2011)</a> identified heterozygous mutations in the KAT6B gene: a nonsense mutation (E1357X; <a href="/entry/605880#0004">605880.0004</a>), a 1-bp insertion (<a href="/entry/605880#0001">605880.0001</a>), and a 4-bp deletion (<a href="/entry/605880#0002">605880.0002</a>). Subsequent analysis of all 19 patients with an SBBYSS or an SBBYSS-like phenotype revealed truncating mutations in exon 18 of the KAT6B gene in 12 patients, and 1 patient was found to have a heterozygous frameshift mutation in exon 15 (<a href="/entry/605880#0003">605880.0003</a>) that had not been detected on whole-exome sequencing. Three of the patients with typical features had previously been reported by <a href="#3" class="mim-tip-reference" title="Clayton-Smith, J., Krajewska-Walasek, M., Fryer, A., Donnai, D. <strong>Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth.</strong> Clin. Dysmorph. 3: 115-120, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8055130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8055130</a>]" pmid="8055130">Clayton-Smith et al. (1994)</a> and one by <a href="#5" class="mim-tip-reference" title="Day, R., Beckett, B., Donnai, D., Fryer, A., Heidenblad, M., Howard, P., Kerr, B., Mansour, S., Maye, U., McKee, S., Mohammed, S., Sweeney, E., Tassabehji, M., de Vries, B. B. A., Clayton-Smith, J. <strong>A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome.</strong> Clin. Genet. 74: 434-444, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18798845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18798845</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2008.01087.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18798845">Day et al. (2008)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8055130+18798845+22077973" 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 2 children with clinical features of SBBYSS, including a 4-year-old girl previously reported by <a href="#12" class="mim-tip-reference" title="Szakszon, K., Berenyi, E., Jakab, A., Bessenyei, B., Balogh, E., Kobling, T., Szilvassy, J., Knegt, A. C., Olah, E. <strong>Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type: new findings with neuroimaging.</strong> Am. J. Med. Genet. 155A: 634-637, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21344633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21344633</a>] [<a href="https://doi.org/10.1002/ajmg.a.33837" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21344633">Szakszon et al. (2011)</a>, <a href="#13" class="mim-tip-reference" title="Szakszon, K., Salpietro, C., Kakar, N., Knegt, A. C., Olah, E., Dallapiccola, B., Borck, G. <strong>De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome.</strong> Am. J. Med. Genet. 161A: 884-888, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23436491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23436491</a>] [<a href="https://doi.org/10.1002/ajmg.a.35848" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23436491">Szakszon et al. (2013)</a> identified different de novo truncating mutations in the distal region of exon 18 of the KAT6B gene (c.5064_5071, <a href="/entry/605880#0011">605880.0011</a>; c.5389C-T, <a href="/entry/605880#0012">605880.0012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23436491+21344633" 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="Yates, T. M., Langley, C. L. M., DDD Study, Grozeva, D., Raymond, F. L., Johnson, D. S. <strong>Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum. (Letter)</strong> Clin. Genet. 95: 334-335, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30353918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30353918</a>] [<a href="https://doi.org/10.1111/cge.13456" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30353918">Yates et al. (2019)</a> identified a novel heterozygous splicing mutation in the KAT6B gene (<a href="/entry/605880#0013">605880.0013</a>) in affected members of a family with SBBYSS. The mutation was found by exome sequencing and confirmed by Sanger sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30353918" 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="#13" class="mim-tip-reference" title="Szakszon, K., Salpietro, C., Kakar, N., Knegt, A. C., Olah, E., Dallapiccola, B., Borck, G. <strong>De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome.</strong> Am. J. Med. Genet. 161A: 884-888, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23436491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23436491</a>] [<a href="https://doi.org/10.1002/ajmg.a.35848" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23436491">Szakszon et al. (2013)</a> noted that most SBBYSS-causing mutations cluster in the distal (3-prime) region of KAT6B exon 18 (c.4069-5734), whereas GTPTS-causing mutations cluster in the proximal (5-prime) region of the same exon (c.3680-4368). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23436491" 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="Lonardo, F., Lonardo, M. S., Acquaviva, F., Della Monica, M., Scarano, F., Scarano, G. <strong>Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome: lumping or splitting?</strong> Clin. Genet. 95: 253-261, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28857140/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28857140</a>] [<a href="https://doi.org/10.1111/cge.13127" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28857140">Lonardo et al. (2019)</a> reviewed the issue of whether SBBYSS and GTPTS should be considered distinct disorders or variations of the same disorder, given that they are both caused by pathogenic variants in the KAT6B gene. The authors noted that patients with mutations that occur more proximally, which are subject to nonsense-mediated decay (NMD), are more likely to present with a milder SBBYSS phenotype caused by haploinsufficiency. Variants not subject to NMD that affect critical binding sites of KAT6B are more likely to cause a more severe GTPTS phenotype. Variants that occur more distally and escape NMD but do not interfere with critical KAT6B binding sites are more likely to cause the SBBYSS phenotype rather than GTPTS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28857140" 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>Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome).</strong>
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J. Med. Genet. 30: 255-256, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8474111/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8474111</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8474111" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Unknown syndrome: abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation: a third patient.</strong>
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J. Med. Genet. 26: 785-786, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2614801/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2614801</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2614801" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth.</strong>
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Clin. Dysmorph. 3: 115-120, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8055130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8055130</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8055130" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Clayton-Smith, J., O'Sullivan, J., Daly, S., Bhaskar, S., Day, R., Anderson, B., Voss, A. K., Thomas, T., Biesecker, L. G., Smith, P., Fryer, A., Chandler, K. E., and 13 others.
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<strong>Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.</strong>
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Am. J. Hum. Genet. 89: 675-681, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22077973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22077973</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22077973[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=22077973" 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/j.ajhg.2011.10.008" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Day2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Day, R., Beckett, B., Donnai, D., Fryer, A., Heidenblad, M., Howard, P., Kerr, B., Mansour, S., Maye, U., McKee, S., Mohammed, S., Sweeney, E., Tassabehji, M., de Vries, B. B. A., Clayton-Smith, J.
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<strong>A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome.</strong>
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Clin. Genet. 74: 434-444, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18798845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18798845</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18798845" 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.1399-0004.2008.01087.x" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Fryns1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Fryns, J. P., Moerman, P.
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<strong>Unknown syndrome: abnormal facies, hypothyroidism and severe retardation: a second patient.</strong>
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J. Med. Genet. 25: 498-499, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3172145/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3172145</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3172145" 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.25.7.498" target="_blank">Full Text</a>]
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<a id="Kondoh2000" class="mim-anchor"></a>
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<p class="mim-text-font">
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Kondoh, T., Kinoshita, E., Moriuchi, H., Niikawa, N., Matsumoto, T., Masuno, M.
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<strong>Young-Simpson syndrome comprising transient hypothyroidism, normal growth, macular degeneration and torticollis. (Letter)</strong>
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Am. J. Med. Genet. 90: 85-86, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10602125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10602125</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10602125" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Lonardo2019" class="mim-anchor"></a>
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Lonardo, F., Lonardo, M. S., Acquaviva, F., Della Monica, M., Scarano, F., Scarano, G.
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<strong>Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome: lumping or splitting?</strong>
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Clin. Genet. 95: 253-261, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28857140/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28857140</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28857140" 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/cge.13127" target="_blank">Full Text</a>]
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<a id="Masuno1999" class="mim-anchor"></a>
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Masuno, M., Imaizumi, K., Okada, T., Adachi, M., Nishimura, G., Ishii, T., Tachibana, K., Kuroki, Y.
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<strong>Young-Simpson syndrome: further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation.</strong>
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Am. J. Med. Genet. 84: 8-11, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10213038/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10213038</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10213038" 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/(sici)1096-8628(19990507)84:1<8::aid-ajmg2>3.0.co;2-2" target="_blank">Full Text</a>]
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<a id="Nakamura1997" class="mim-anchor"></a>
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Nakamura, T., Noma, S.
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<strong>A Japanese boy with Young-Simpson syndrome.</strong>
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Acta Paediat. Jpn. 39: 472-474, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9316295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9316295</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9316295" 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.1442-200x.1997.tb03621.x" target="_blank">Full Text</a>]
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<a id="Robinson2008" class="mim-anchor"></a>
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Robinson, D. M., Meagher, C. C., Orlowski, C. C., Lagoe, E. C., Fong, C.-T.
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<strong>Young-Simpson syndrome (YSS), a variant of del(1)(p36) syndrome?</strong>
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Am. J. Med. Genet. 146A: 1571-1574, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18470891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18470891</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18470891" 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.32096" target="_blank">Full Text</a>]
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Szakszon, K., Berenyi, E., Jakab, A., Bessenyei, B., Balogh, E., Kobling, T., Szilvassy, J., Knegt, A. C., Olah, E.
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<strong>Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type: new findings with neuroimaging.</strong>
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Am. J. Med. Genet. 155A: 634-637, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21344633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21344633</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21344633" 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.33837" target="_blank">Full Text</a>]
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<a id="Szakszon2013" class="mim-anchor"></a>
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Szakszon, K., Salpietro, C., Kakar, N., Knegt, A. C., Olah, E., Dallapiccola, B., Borck, G.
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<strong>De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome.</strong>
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Am. J. Med. Genet. 161A: 884-888, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23436491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23436491</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23436491" 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.35848" target="_blank">Full Text</a>]
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<a id="Yates2019" class="mim-anchor"></a>
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Yates, T. M., Langley, C. L. M., DDD Study, Grozeva, D., Raymond, F. L., Johnson, D. S.
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<strong>Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum. (Letter)</strong>
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Clin. Genet. 95: 334-335, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30353918/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30353918</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30353918" 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/cge.13456" target="_blank">Full Text</a>]
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<a id="Young1987" class="mim-anchor"></a>
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Young, I. D., Simpson, K.
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<strong>Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation.</strong>
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J. Med. Genet. 24: 715-716, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3430551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3430551</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3430551" 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.24.11.715" target="_blank">Full Text</a>]
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Sonja A. Rasmussen - updated : 08/18/2020
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Carol A. Bocchini - updated : 1/7/2015<br>Nara Sobreira - updated : 5/14/2013<br>Nara Sobreira - updated : 5/2/2013<br>Marla J. F. O'Neill - updated : 4/10/2012<br>Nara Sobreira - updated : 12/13/2011<br>Nara Sobreira - updated : 11/20/2009<br>Victor A. McKusick - updated : 1/13/2000
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Victor A. McKusick : 4/16/1999
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carol : 02/18/2025
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alopez : 08/13/2024<br>carol : 08/18/2020<br>alopez : 06/12/2018<br>carol : 01/16/2015<br>carol : 1/7/2015<br>carol : 5/14/2013<br>carol : 5/2/2013<br>carol : 4/10/2012<br>terry : 4/10/2012<br>carol : 12/13/2011<br>carol : 12/13/2011<br>carol : 9/14/2011<br>terry : 11/20/2009<br>mgross : 1/18/2000<br>terry : 1/13/2000<br>terry : 5/20/1999<br>mgross : 4/20/1999
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<strong>#</strong> 603736
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OHDO SYNDROME, SBBYS VARIANT; SBBYSS
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SAY-BARBER-BIESECKER-YOUNG-SIMPSON SYNDROME<br />
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YOUNG-SIMPSON SYNDROME; YSS
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 699298009;
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<strong>ORPHA:</strong> 3047;
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<strong>DO:</strong> 0060290;
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</span>
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</p>
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<br />
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<div>
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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 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>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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10q22.2
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</span>
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</td>
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<td>
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<span class="mim-font">
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SBBYSS syndrome
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</span>
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</td>
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<td>
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<span class="mim-font">
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603736
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
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KAT6B
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</span>
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</td>
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<td>
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<span class="mim-font">
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605880
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because the SBBYS variant of Ohdo syndrome is caused by heterozygous mutation in the KAT6B gene (605880) on chromosome 10q22.</p><p>Heterozygous mutation in the KAT6B can also cause genitopatellar syndrome (GTPTS; 606170).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</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>Say-Barber-Biesecker-Young-Simpson syndrome, a variant of Ohdo syndrome (249620), is characterized by distinctive facial appearance with severe blepharophimosis, an immobile mask-like face, a bulbous nasal tip, and a small mouth with a thin upper lip. The condition presents in infancy with severe hypotonia and feeding problems. Associated skeletal problems include joint laxity, abnormally long thumbs and great toes, and dislocated or hypoplastic patellae. Structural cardiac defects are present in around 50% of cases, and dental anomalies, including small and pointed teeth, are common. Many affected individuals have abnormalities of thyroid structure or function. YSS is usually associated with severely impaired intellectual development, delayed motor milestones, and significantly impaired speech (summary by Clayton-Smith et al., 2011). </p><p>Genitopatellar syndrome (606170) is an allelic disorder with overlapping features.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Clinical Features</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>Young and Simpson (1987) described a girl with congenital heart defects, hypothyroidism, mental retardation, and facial dysmorphism, including blepharophimosis. Four additional patients with similar symptoms were reported (Fryns and Moerman, 1988; Cavalcanti, 1989; Bonthron et al., 1993; Nakamura and Noma, 1997). Masuno et al. (1999) described a 5-year-old boy and a 7-year-old girl thought to have this syndrome. All 7 reported patients, including those of Masuno et al. (1999), were sporadic; however, autosomal recessive inheritance had been proposed because the parents of the patient reported by Bonthron et al. (1993) were consanguineous. </p><p>Kondoh et al. (2000) reported a 7-year-old Japanese boy thought to have YSS. Thyroid dysfunction was less severe than that in the 7 previously reported patients. Furthermore, the patient had 4 previously undescribed manifestations: bilateral macular degeneration, torticollis, talipes equinovarus, and patella dislocation. </p><p>Szakszon et al. (2011) described a female with SBBYS syndrome in whom diffusion tensor magnetic resonance imaging (MRI) and tractography of the brain showed inappropriate myelination and disturbed white matter integrity. A delayed myelination was visible in the pons, the anterior horn of the internal capsule, and the splenium of the corpus callosum. Diffusion tensor imaging revealed a circumscribed 6 to 8 mm area of decreased anisotropy in the frontal white matter adjacent to the frontal horn of the right ventricle. Fibertracking analysis identified disrupted tracts within this region particularly affecting the connections of the frontal cortex. Region of interest analysis on secondary diffusion images revealed decreased anisotropy and decreased longitudinal diffusivity in the frontal white matter of the right side compared to those of the left. </p><p>Yates et al. (2019) reported 6 patients from a single family with a mild SBBYSS phenotype. All of the patients had developmental delay or impaired intellectual development, which was moderate in 1 patient and mild in the other 5. All patients had dysmorphic features including blepharophimosis and bulbous nose. Three patients had mildly downslanting palpebral fissures, and 3 had varying degrees of myopathic facies. The authors noted that this family provides further evidence of familial transmission of SBBYSS and that the phenotype might be underreported, particularly for milder phenotypes. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</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>The heterozygous mutations in the KAT6B gene that were identified in patients with SBBYSS by Szakszon et al. (2013) occurred de novo. </p><p>The transmission pattern of SBBYSS in the family reported by Yates et al. (2019) was consistent with autosomal dominant inheritance. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Diagnosis</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Differential Diagnosis</em></strong></p><p>
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Lonardo et al. (2019) discussed the issue of whether SBBYSS and genitopatellar syndrome, both caused by pathogenic heterozygous mutation in the KAT6B gene, should be considered the same or distinct conditions. They noted that whereas both phenotypes have several features in common, including global developmental delay/impaired intellectual development, hypotonia, genital abnormalities, patellar hypoplasia/agenesis, congenital heart defects, dental abnormalities, hearing loss, and thyroid anomalies, there are clinical features that could help to differentiate the disorders, the most notable being the facial features seen in patients with SBBYSS (i.e., mask-like facies, blepharophimosis, and ptosis). They did note, however, that the overlapping features may make it difficult to distinguish between the 2 disorders. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cytogenetics</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>Robinson et al. (2008) described a girl with YSS who presented with the typical facial findings, global retardation, congenital hypothyroidism, and congenital dilated cardiomyopathy. This was the first case of YSS associated with dilated cardiomyopathy, which is commonly seen in patients with 1p36 monosomy (607872). CGH analysis showed a 1p36.3 deletion (encompassing approximately 5.5 Mb), a finding not previously reported in other YSS cases. Robinson et al. (2008) suggested that YSS is due to a deletion in the terminal region on the short arm of chromosome 1. </p><p>Clayton-Smith et al. (2011) described a patient (individual 17) with atypical SBBYSS syndrome who had a deletion of approximately 8.3 Mb at 1p36.21-p36.12 (chr1:13,339,380-21,692,325, NCBI36) and a duplication of approximately 1.3 Mb at 1p34 (chr1:34,572,912-35,949,096, NCBI36). This patient did not have a mutation in the KAT6B gene. Clayton-Smith et al. (2011) suggested that an atypical SBBYSS phenotype may have a separate genetic etiology. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</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>Clayton-Smith et al. (2011) studied a cohort of 19 patients with a presumed diagnosis of SBBYSS, in which 12 patients were considered to have typical features of the syndrome, 2 had suggestive but milder features, and 5 were classified as atypical. By whole-exome sequencing in 4 patients with typical features, Clayton-Smith et al. (2011) identified heterozygous mutations in the KAT6B gene: a nonsense mutation (E1357X; 605880.0004), a 1-bp insertion (605880.0001), and a 4-bp deletion (605880.0002). Subsequent analysis of all 19 patients with an SBBYSS or an SBBYSS-like phenotype revealed truncating mutations in exon 18 of the KAT6B gene in 12 patients, and 1 patient was found to have a heterozygous frameshift mutation in exon 15 (605880.0003) that had not been detected on whole-exome sequencing. Three of the patients with typical features had previously been reported by Clayton-Smith et al. (1994) and one by Day et al. (2008). </p><p>In 2 children with clinical features of SBBYSS, including a 4-year-old girl previously reported by Szakszon et al. (2011), Szakszon et al. (2013) identified different de novo truncating mutations in the distal region of exon 18 of the KAT6B gene (c.5064_5071, 605880.0011; c.5389C-T, 605880.0012). </p><p>Yates et al. (2019) identified a novel heterozygous splicing mutation in the KAT6B gene (605880.0013) in affected members of a family with SBBYSS. The mutation was found by exome sequencing and confirmed by Sanger sequencing. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</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>Szakszon et al. (2013) noted that most SBBYSS-causing mutations cluster in the distal (3-prime) region of KAT6B exon 18 (c.4069-5734), whereas GTPTS-causing mutations cluster in the proximal (5-prime) region of the same exon (c.3680-4368). </p><p>Lonardo et al. (2019) reviewed the issue of whether SBBYSS and GTPTS should be considered distinct disorders or variations of the same disorder, given that they are both caused by pathogenic variants in the KAT6B gene. The authors noted that patients with mutations that occur more proximally, which are subject to nonsense-mediated decay (NMD), are more likely to present with a milder SBBYSS phenotype caused by haploinsufficiency. Variants not subject to NMD that affect critical binding sites of KAT6B are more likely to cause a more severe GTPTS phenotype. Variants that occur more distally and escape NMD but do not interfere with critical KAT6B binding sites are more likely to cause the SBBYSS phenotype rather than GTPTS. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</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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Bonthron, D. T., Barlow, K. M., Burt, A. M., Barr, D. G. D.
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<strong>Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome).</strong>
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J. Med. Genet. 30: 255-256, 1993.
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[PubMed: 8474111]
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[Full Text: https://doi.org/10.1136/jmg.30.3.255]
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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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Cavalcanti, D. P.
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<strong>Unknown syndrome: abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation: a third patient.</strong>
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J. Med. Genet. 26: 785-786, 1989.
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[PubMed: 2614801]
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[Full Text: https://doi.org/10.1136/jmg.26.12.785]
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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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Clayton-Smith, J., Krajewska-Walasek, M., Fryer, A., Donnai, D.
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<strong>Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth.</strong>
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Clin. Dysmorph. 3: 115-120, 1994.
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[PubMed: 8055130]
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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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Clayton-Smith, J., O'Sullivan, J., Daly, S., Bhaskar, S., Day, R., Anderson, B., Voss, A. K., Thomas, T., Biesecker, L. G., Smith, P., Fryer, A., Chandler, K. E., and 13 others.
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<strong>Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.</strong>
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Am. J. Hum. Genet. 89: 675-681, 2011.
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[PubMed: 22077973]
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[Full Text: https://doi.org/10.1016/j.ajhg.2011.10.008]
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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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Day, R., Beckett, B., Donnai, D., Fryer, A., Heidenblad, M., Howard, P., Kerr, B., Mansour, S., Maye, U., McKee, S., Mohammed, S., Sweeney, E., Tassabehji, M., de Vries, B. B. A., Clayton-Smith, J.
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<strong>A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome.</strong>
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Clin. Genet. 74: 434-444, 2008.
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[PubMed: 18798845]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2008.01087.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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Fryns, J. P., Moerman, P.
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<strong>Unknown syndrome: abnormal facies, hypothyroidism and severe retardation: a second patient.</strong>
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J. Med. Genet. 25: 498-499, 1988.
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[PubMed: 3172145]
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[Full Text: https://doi.org/10.1136/jmg.25.7.498]
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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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Kondoh, T., Kinoshita, E., Moriuchi, H., Niikawa, N., Matsumoto, T., Masuno, M.
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<strong>Young-Simpson syndrome comprising transient hypothyroidism, normal growth, macular degeneration and torticollis. (Letter)</strong>
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Am. J. Med. Genet. 90: 85-86, 2000.
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[PubMed: 10602125]
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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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Lonardo, F., Lonardo, M. S., Acquaviva, F., Della Monica, M., Scarano, F., Scarano, G.
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<strong>Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome: lumping or splitting?</strong>
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Clin. Genet. 95: 253-261, 2019.
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[PubMed: 28857140]
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[Full Text: https://doi.org/10.1111/cge.13127]
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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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Masuno, M., Imaizumi, K., Okada, T., Adachi, M., Nishimura, G., Ishii, T., Tachibana, K., Kuroki, Y.
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<strong>Young-Simpson syndrome: further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation.</strong>
|
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Am. J. Med. Genet. 84: 8-11, 1999.
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[PubMed: 10213038]
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[Full Text: https://doi.org/10.1002/(sici)1096-8628(19990507)84:1<8::aid-ajmg2>3.0.co;2-2]
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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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Nakamura, T., Noma, S.
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<strong>A Japanese boy with Young-Simpson syndrome.</strong>
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Acta Paediat. Jpn. 39: 472-474, 1997.
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[PubMed: 9316295]
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[Full Text: https://doi.org/10.1111/j.1442-200x.1997.tb03621.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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Robinson, D. M., Meagher, C. C., Orlowski, C. C., Lagoe, E. C., Fong, C.-T.
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<strong>Young-Simpson syndrome (YSS), a variant of del(1)(p36) syndrome?</strong>
|
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Am. J. Med. Genet. 146A: 1571-1574, 2008.
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[PubMed: 18470891]
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[Full Text: https://doi.org/10.1002/ajmg.a.32096]
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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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Szakszon, K., Berenyi, E., Jakab, A., Bessenyei, B., Balogh, E., Kobling, T., Szilvassy, J., Knegt, A. C., Olah, E.
|
|
<strong>Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type: new findings with neuroimaging.</strong>
|
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Am. J. Med. Genet. 155A: 634-637, 2011.
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[PubMed: 21344633]
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[Full Text: https://doi.org/10.1002/ajmg.a.33837]
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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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Szakszon, K., Salpietro, C., Kakar, N., Knegt, A. C., Olah, E., Dallapiccola, B., Borck, G.
|
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<strong>De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome.</strong>
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Am. J. Med. Genet. 161A: 884-888, 2013.
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[PubMed: 23436491]
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[Full Text: https://doi.org/10.1002/ajmg.a.35848]
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Yates, T. M., Langley, C. L. M., DDD Study, Grozeva, D., Raymond, F. L., Johnson, D. S.
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<strong>Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum. (Letter)</strong>
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Clin. Genet. 95: 334-335, 2019.
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[PubMed: 30353918]
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[Full Text: https://doi.org/10.1111/cge.13456]
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Young, I. D., Simpson, K.
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<strong>Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation.</strong>
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J. Med. Genet. 24: 715-716, 1987.
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[PubMed: 3430551]
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[Full Text: https://doi.org/10.1136/jmg.24.11.715]
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