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<title>
Entry
- #312870 - SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1
- OMIM
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<span class="h4">#312870</span>
<br />
<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/312870"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#otherFeatures">Other Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#history">History</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE" 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>
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=912&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>
<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1219/" 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 id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0060248" 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>
<div><a href="http://www.informatics.jax.org/disease/312870" 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>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
<span class="panel-title">
<span class="small">
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:312870" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<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.">
&nbsp;
</span>
</span>
</div>
<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">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>ORPHA:</strong> 373<br />
<strong>DO:</strong> 0060248<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
312870
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
SGBS<br />
BULLDOG SYNDROME<br />
DYSPLASIA GIGANTISM SYNDROME, X-LINKED; DGSX<br />
GOLABI-ROSEN SYNDROME<br />
SIMPSON DYSMORPHIA SYNDROME; SDYS
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/691?start=-3&limit=10&highlight=691">
Xq26.2
</a>
</span>
</td>
<td>
<span class="mim-font">
Simpson-Golabi-Behmel syndrome, type 1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/312870"> 312870 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
GPC3
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300037"> 300037 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/312870" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/312870" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/312870" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- X-linked recessive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845977&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845977</a>, <a href="https://bioportal.bioontology.org/search?q=C1279481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279481</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Height </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Tall stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248328003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248328003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241240&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241240</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000098" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000098</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000098" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000098</a>]</span><br /> -
Birth length greater than 97th percentile <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839271&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839271</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003517" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003517</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003517" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003517</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Weight </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Birth weight greater than 97th percentile <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839272&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839272</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Other </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Birth head circumference greater than 97th percentile <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839273&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839273</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Head </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Macrocephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12138000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12138000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1145403003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1145403003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221355&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221355</a>, <a href="https://bioportal.bioontology.org/search?q=C2243051&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2243051</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001355" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001355</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=dd989bb153739761147ef05dc870b050" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Macrocephaly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=dd989bb153739761147ef05dc870b050&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Coarse facies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845847&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845847</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000280</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000280</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Preauricular pits <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1955003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1955003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266610&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266610</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004467" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004467</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004467" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004467</a>]</span><br /> -
Preauricular tags <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204245004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204245004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860816&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860816</a>, <a href="https://bioportal.bioontology.org/search?q=C0266609&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266609</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000384" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000384</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0030024" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030024</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000384" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000384</a>]</span><br /> -
Hearing loss <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/103276001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">103276001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/343087000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">343087000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15188001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15188001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H91.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011053&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011053</a>, <a href="https://bioportal.bioontology.org/search?q=C0018772&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018772</a>, <a href="https://bioportal.bioontology.org/search?q=C1384666&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1384666</a>, <a href="https://bioportal.bioontology.org/search?q=C3887873&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887873</a>, <a href="https://bioportal.bioontology.org/search?q=C2029884&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2029884</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</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">
- Downslanting palpebral fissures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246800008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246800008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423110&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423110</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000494</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000494</a>]</span><br /> -
Hypertelorism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22006008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020534</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Epicanthal folds <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74824007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74824007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0678230&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0678230</a>, <a href="https://bioportal.bioontology.org/search?q=C0229249&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0229249</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000286</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000286</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Nose </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Broad flat nasal bridge <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839764&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839764</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000431" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000431</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000431" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000431</a>]</span><br /> -
Short nose <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854114&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854114</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003196" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003196</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003196" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003196</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=25661c4279536e7705f328dbb0964878" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Nose,Short-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=25661c4279536e7705f328dbb0964878&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Upturned nose <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/708670007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">708670007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840077&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840077</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000463" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000463</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000463" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000463</a>]</span><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">
- Macrostomia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40159009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40159009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q18.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q18.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/744.83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">744.83</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024433&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024433</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000154" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000154</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000154" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000154</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=b0954434ddf5fc24e4a2f1af29680b21" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Mouth,Wide-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=b0954434ddf5fc24e4a2f1af29680b21&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Macroglossia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25273001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25273001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/270516002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">270516002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K14.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K14.8</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q38.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q38.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/750.15" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">750.15</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024421&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024421</a>, <a href="https://bioportal.bioontology.org/search?q=C0009677&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009677</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000158" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000158</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000158" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000158</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=ac5acf24e74116d49a4df85084887155" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Tongue,Large-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=ac5acf24e74116d49a4df85084887155&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Midline groove of lower lip <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839275&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839275</a>]</span><br /> -
Broad secondary alveolar ridge <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839276&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839276</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000216" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000216</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000216" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000216</a>]</span><br /> -
Submucous cleft lip <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839277&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839277</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009101" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009101</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009101" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009101</a>]</span><br /> -
Cleft palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63567004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63567004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87979003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87979003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837218</a>, <a href="https://bioportal.bioontology.org/search?q=C2981150&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2981150</a>, <a href="https://bioportal.bioontology.org/search?q=C2240378&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2240378</a>, <a href="https://bioportal.bioontology.org/search?q=C0008925&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008925</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Teeth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Dental malocclusion <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/707598004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">707598004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/47944004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">47944004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024636</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000689" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000689</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000689" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000689</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CARDIOVASCULAR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Heart </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cardiac conduction defects <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44808001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44808001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I45.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I45.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/426.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">426.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/426" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">426</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4318382&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4318382</a>, <a href="https://bioportal.bioontology.org/search?q=C1842820&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842820</a>, <a href="https://bioportal.bioontology.org/search?q=C0264886&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0264886</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031546" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031546</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031546" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031546</a>]</span><br /> -
Ventricular septal defect <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30288003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30288003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253549006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253549006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/768552007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">768552007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/745.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018818&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018818</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001629</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001629</a>]</span><br /> -
Pulmonic stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56786000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56786000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1956257&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1956257</a>, <a href="https://bioportal.bioontology.org/search?q=C0034089&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034089</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001642" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001642</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001642" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001642</a>]</span><br /> -
Cardiomyopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85898001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85898001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57809008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57809008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I51.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I51.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I42.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I42.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/425" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">425</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0878544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0878544</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001638" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001638</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001638" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001638</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Vascular </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Transposition of great vessels <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204296002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204296002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26146002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26146002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q20.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q20.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/745.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/745.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040761&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040761</a>, <a href="https://bioportal.bioontology.org/search?q=C3536741&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3536741</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001669" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001669</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001669" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001669</a>]</span><br /> -
Patent ductus arteriosus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/83330001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">83330001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q25.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q25.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/747.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">747.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013274&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013274</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001643" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001643</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001643" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001643</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> RESPIRATORY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Lung </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Lung segmentation defects <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91842005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91842005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0685695&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0685695</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002101" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002101</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002101" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002101</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CHEST </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Ribs Sternum Clavicles & Scapulae </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cervical ribs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1285171005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1285171005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72535009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72535009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q76.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q76.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/756.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">756.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158779&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158779</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000891" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000891</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000891" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000891</a>]</span><br /> -
Pectus excavatum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/391987005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">391987005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/391982004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">391982004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016842&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016842</a>, <a href="https://bioportal.bioontology.org/search?q=C2051831&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2051831</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000767" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000767</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000767" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000767</a>]</span><br /> -
13 pairs of ribs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836932&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836932</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Breasts </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Supernumerary nipples <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/50956007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">50956007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q83.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q83.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266011&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266011</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002558" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002558</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002558" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002558</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Diaphragm </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Diaphragmatic hernia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17190001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17190001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39839004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39839004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q79.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q79.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K44.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K44.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K44" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K44</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/553.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">553.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235833&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235833</a>, <a href="https://bioportal.bioontology.org/search?q=C0494752&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0494752</a>, <a href="https://bioportal.bioontology.org/search?q=C0019284&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019284</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000776" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000776</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000776" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000776</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> External Features </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Umbilical hernias <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/396347007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">396347007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K42</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K42.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K42.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019322&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019322</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001537</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001537</a>]</span><br /> -
Diastasis recti <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62629000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62629000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221766&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221766</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001540" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001540</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001540" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001540</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Liver </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hepatomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80515008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80515008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019209&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019209</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002240" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002240</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Pancreas </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hyperplastic islets of Langerhans <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0597167&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0597167</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004510</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004510</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Spleen </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Polysplenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/10362008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">10362008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266631&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266631</a>, <a href="https://bioportal.bioontology.org/search?q=C1856659&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856659</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001747" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001747</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001748" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001748</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001748" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001748</a>]</span><br /> -
Splenomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16294009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16294009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R16.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R16.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/789.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">789.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038002&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038002</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001744" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001744</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Gastrointestinal </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Intestinal malrotation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48641006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48641006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29980002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29980002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253789002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253789002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221210&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221210</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002566" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002566</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002566" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002566</a>]</span><br /> -
Meckel diverticulum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/127962001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">127962001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37373007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37373007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q43.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q43.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/751.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">751.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025037&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025037</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002245" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002245</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002245" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002245</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> External Genitalia (Male) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hypospadias <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204888000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204888000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/416010008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">416010008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.61</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0848558&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0848558</a>, <a href="https://bioportal.bioontology.org/search?q=C1691215&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1691215</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003244" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003244</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000047" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000047</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000047" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000047</a>]</span><br /> -
Inguinal hernia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/396232000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">396232000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K40.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K40.90</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/550" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">550</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019294&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019294</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000023</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000023</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Internal Genitalia (Male) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cryptorchidism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204878001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204878001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q53.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q53.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010417&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010417</a>, <a href="https://bioportal.bioontology.org/search?q=C5441920&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441920</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Kidneys </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Large kidneys <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/300444006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">300444006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0542518&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0542518</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000105" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000105</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000105" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000105</a>]</span><br /> -
Cystic kidneys <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022679&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022679</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000107" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000107</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000107" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000107</a>]</span><br /> -
Duplication of renal pelvis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839269&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839269</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005580" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005580</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005580" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005580</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Advanced bone age <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/123982003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">123982003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0545053&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0545053</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005616" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005616</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005616" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005616</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Spine </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Vertebral segmentation defects <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205455005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205455005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0432163&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0432163</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003422" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003422</a>]</span><br /> -
Fusion of C2-C3 posterior elements <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839278&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839278</a>]</span><br /> -
Six lumbar vertebrae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839279&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839279</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008416" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008416</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008416" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008416</a>]</span><br /> -
Sacral defects <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839280&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839280</a>]</span><br /> -
Coccygeal defects <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839281&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839281</a>]</span><br /> -
Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Pelvis </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Flared iliac wing <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865841&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865841</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002869" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002869</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002869" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002869</a>]</span><br /> -
Narrow sacroiliac notches in infancy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839282&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839282</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short broad hands <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849956&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849956</a>]</span><br /> -
Postaxial polydactyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0220697&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0220697</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100259</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100259</a>]</span><br /> -
Syndactyly 2nd-3rd fingers <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205139009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205139009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0432055&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0432055</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001233" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001233</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001233" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001233</a>]</span><br /> -
Broad thumbs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249773003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249773003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426891&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426891</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011304" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011304</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011304" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011304</a>]</span><br /> -
Distal phalangeal hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839829&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839829</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009882</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009882</a>]</span><br /> -
Two carpal ossification centers present at birth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839285&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839285</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006176" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006176</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006176" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006176</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short broad feet <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850337&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850337</a>]</span><br /> -
Syndactyly 2nd-3rd toes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867117&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867117</a>]</span><br /> -
Broad toes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865038&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865038</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001837" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001837</a>]</span><br /> -
Clubfoot <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397932003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397932003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1156475005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1156475005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.89" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.89</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009081&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009081</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Skin </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Coccygeal skin tags <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839286&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839286</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Nails </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Fingernail hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839287&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839287</a>]</span><br />
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<strong> NEUROLOGIC </strong>
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<em> Central Nervous System </em>
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- Development varies from normal to retarded <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839268&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839268</a>]</span><br /> -
Agenesis of corpus callosum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/5102002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">5102002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q04.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q04.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0175754&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0175754</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001274" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001274</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001274" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001274</a>]</span><br /> -
Cerebellar vermis hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840379</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001320" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001320</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001320" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001320</a>]</span><br /> -
Hydrocephalus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230745008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230745008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020255&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020255</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000238" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000238</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000238" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000238</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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<strong> NEOPLASIA </strong>
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- Embryonal tumors <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027654&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027654</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002898" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002898</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002898" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002898</a>]</span><br /> -
Wilms tumor <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25081006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25081006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302849000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302849000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027708&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027708</a>, <a href="https://bioportal.bioontology.org/search?q=C1333015&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1333015</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002667" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002667</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002667" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002667</a>]</span><br />
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<strong> PRENATAL MANIFESTATIONS </strong>
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<div style="margin-left: 2em;">
<div>
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- Nuchal translucency <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1449855&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1449855</a>]</span><br />
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<em> Maternal </em>
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<span class="mim-font">
- Increased alpha-fetoprotein <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235971&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235971</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006254" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006254</a>]</span><br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the glypican 3 gene (GPC3, 300037.0001)<br />
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<p>A number sign (#) is used with this entry because of evidence that the Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is caused by mutation in the gene encoding glypican-3 (GPC3; <a href="/entry/300037">300037</a>) on chromosome Xq26.</p><p>Some evidence suggests that disruption of the GPC4 gene (<a href="/entry/300168">300168</a>), which is adjacent to the GPC3 gene, may also cause the disorder (see MOLECULAR GENETICS).</p>
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<strong>Description</strong>
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<p>Simpson-Golabi-Behmel syndrome is an X-linked condition characterized by pre- and postnatal overgrowth, coarse facies, congenital heart defects, and other congenital abnormalities (<a href="#43" class="mim-tip-reference" title="Xuan, J. Y., Hughes-Benzie, R. M., MacKenzie, A. E. &lt;strong&gt;A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family.&lt;/strong&gt; J. Med. Genet. 36: 57-58, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9950367/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9950367&lt;/a&gt;]" pmid="9950367">Xuan et al., 1999</a>). It shows phenotypic similarities to Beckwith-Wiedemann syndrome (BWS; <a href="/entry/130650">130650</a>), another overgrowth syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9950367" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Simpson-Golabi-Behmel Syndrome</em></strong></p><p>
See Simpson-Golabi-Behmel syndrome type 2 (SGBS2; <a href="/entry/300209">300209</a>), caused by mutation in the OFD1 gene (<a href="/entry/300170">300170</a>) on chromosome Xp22.</p>
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<p><a href="#36" class="mim-tip-reference" title="Simpson, J. L., Landey, S., New, M., German, J. &lt;strong&gt;A previously unrecognized X-linked syndrome of dysmorphia.&lt;/strong&gt; Birth Defects Orig. Art. Ser. XI(2): 18-24, 1975."None>Simpson et al. (1975)</a> reported 2 male first cousins, sons of sisters, who had a distinctive facial appearance, including a large protruding jaw, widened nasal bridge, upturned nasal tip, and enlarged tongue. Other features included broad stocky appearance and broad, short hands and fingers. One of the patients had clefting of the lower lip. Intelligence was normal. The family referred to the appearance as 'bulldog'-like. Laboratory tests excluded hypothyroidism. Close linkage with the Xg blood group locus was excluded.</p><p><a href="#15" class="mim-tip-reference" title="Kaariainen, H. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Helsinki, Finland 5/27/1981."None>Kaariainen (1981)</a> observed a tall (192 cm) 40-year-old man with operated pectus excavatum, ventricular septal defect, central cleft of the lower lip, peculiar cup-shaped ears with knobbiness and nodularity, short clubbed terminal phalanges, low-pitched voice, and cataracts developing at age 35. The parents, who came from different parts of Finland, were 170 and 160 cm tall. A brother, height 180 cm, died at age 18 years of ventricular septal defect and pulmonary hypertension. He looked like the surviving brother and quite different from other members of the family. <a href="#16" class="mim-tip-reference" title="Kaariainen, H. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Helsinki, Finland 3/11/1982."None>Kaariainen (1982)</a> concluded that the disorder was the same as that described by <a href="#36" class="mim-tip-reference" title="Simpson, J. L., Landey, S., New, M., German, J. &lt;strong&gt;A previously unrecognized X-linked syndrome of dysmorphia.&lt;/strong&gt; Birth Defects Orig. Art. Ser. XI(2): 18-24, 1975."None>Simpson et al. (1975)</a>.</p><p><a href="#8" class="mim-tip-reference" title="Golabi, M., Rosen, L. &lt;strong&gt;A new X-linked mental retardation-overgrowth syndrome.&lt;/strong&gt; Am. J. Med. Genet. 17: 345-358, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6538755/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6538755&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320170128&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6538755">Golabi and Rosen (1984)</a> reported a family in which 4 males in 4 sibships spanning 3 generations connected through females had prenatal and postnatal overgrowth; short, broad, upturned nose; large mouth, midline groove of tongue, inferior alveolar ridge and lower lip; submucous cleft palate; 13 ribs; Meckel diverticulum; intestinal malrotation; coccygeal skin tag and bony appendage; hypoplastic index fingernails; unilateral postaxial polydactyly; and bilateral syndactyly of fingers 2 and 3. Mental retardation was also a feature. The carrier mother of the propositus had a large mouth, coccygeal skin tag and bony appendage, and hypoplastic index fingernails. <a href="#2" class="mim-tip-reference" title="Behmel, A., Plochl, E., Rosenkranz, W. &lt;strong&gt;A new X-linked dysplasia gigantism syndrome: follow up in the first family and report on a second Austrian family.&lt;/strong&gt; Am. J. Med. Genet. 30: 275-285, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3177454/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3177454&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320300129&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3177454">Behmel et al. (1988)</a> suggested that the mental retardation in the family reported by <a href="#8" class="mim-tip-reference" title="Golabi, M., Rosen, L. &lt;strong&gt;A new X-linked mental retardation-overgrowth syndrome.&lt;/strong&gt; Am. J. Med. Genet. 17: 345-358, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6538755/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6538755&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320170128&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6538755">Golabi and Rosen (1984)</a> may have had a basis unrelated to the rest of the syndrome. Intelligence in the dysplasia gigantism syndrome is usually normal or only mildly retarded. <a href="#3" class="mim-tip-reference" title="Chen, E., Johnson, J. P., Cox, V. A., Golabi, M. &lt;strong&gt;Simpson-Golabi-Behmel syndrome: congenital diaphragmatic hernia and radiologic findings in two patients and follow-up of a previously reported case.&lt;/strong&gt; Am. J. Med. Genet. 46: 574-578, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8322824/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8322824&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320460523&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8322824">Chen et al. (1993)</a> reported the birth of a fifth affected male in the family reported by <a href="#8" class="mim-tip-reference" title="Golabi, M., Rosen, L. &lt;strong&gt;A new X-linked mental retardation-overgrowth syndrome.&lt;/strong&gt; Am. J. Med. Genet. 17: 345-358, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6538755/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6538755&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320170128&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6538755">Golabi and Rosen (1984)</a> and provided a follow-up of a patient who was 8 years old at the time of the initial report. He was 190 cm tall, had coarse facial features, micrognathia, short fingers, and dental abnormalities. Problems with speech and psychosocial development were also described. The newborn member of the family and a second unrelated male with this syndrome were found to have congenital diaphragmatic hernia. On the basis of these cases, <a href="#3" class="mim-tip-reference" title="Chen, E., Johnson, J. P., Cox, V. A., Golabi, M. &lt;strong&gt;Simpson-Golabi-Behmel syndrome: congenital diaphragmatic hernia and radiologic findings in two patients and follow-up of a previously reported case.&lt;/strong&gt; Am. J. Med. Genet. 46: 574-578, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8322824/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8322824&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320460523&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8322824">Chen et al. (1993)</a> noted that radiologic findings include flaring of the iliac wings, narrow sacroiliac notches, and the presence of 2 carpal ossification centers as a newborn ('advanced bone age'). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8322824+6538755+3177454" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a pedigree pattern consistent with X-linked recessive inheritance, <a href="#1" class="mim-tip-reference" title="Behmel, A., Plochl, E., Rosenkranz, W. &lt;strong&gt;A new X-linked dysplasia gigantism syndrome: identical with the Simpson dysplasia syndrome?&lt;/strong&gt; Hum. Genet. 67: 409-413, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6490008/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6490008&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00291401&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6490008">Behmel et al. (1984)</a> observed 11 male newborns with a syndrome similar to that described by <a href="#36" class="mim-tip-reference" title="Simpson, J. L., Landey, S., New, M., German, J. &lt;strong&gt;A previously unrecognized X-linked syndrome of dysmorphia.&lt;/strong&gt; Birth Defects Orig. Art. Ser. XI(2): 18-24, 1975."None>Simpson et al. (1975)</a>: elevated birth weight and length; disproportionately large head with coarse, distinctive facies; short neck; slight obesity; and broad, short hands and feet. The affected males who reached adulthood attained heights of about 2 m; their unusual facial and general appearance and clumsiness, remarkable during infancy and childhood, became somewhat less conspicuous. In all but 1, intelligence was normal, as it was in the 2 cases of <a href="#36" class="mim-tip-reference" title="Simpson, J. L., Landey, S., New, M., German, J. &lt;strong&gt;A previously unrecognized X-linked syndrome of dysmorphia.&lt;/strong&gt; Birth Defects Orig. Art. Ser. XI(2): 18-24, 1975."None>Simpson et al. (1975)</a>. <a href="#2" class="mim-tip-reference" title="Behmel, A., Plochl, E., Rosenkranz, W. &lt;strong&gt;A new X-linked dysplasia gigantism syndrome: follow up in the first family and report on a second Austrian family.&lt;/strong&gt; Am. J. Med. Genet. 30: 275-285, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3177454/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3177454&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320300129&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3177454">Behmel et al. (1988)</a> provided follow-up on the family reported by <a href="#1" class="mim-tip-reference" title="Behmel, A., Plochl, E., Rosenkranz, W. &lt;strong&gt;A new X-linked dysplasia gigantism syndrome: identical with the Simpson dysplasia syndrome?&lt;/strong&gt; Hum. Genet. 67: 409-413, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6490008/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6490008&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00291401&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6490008">Behmel et al. (1984)</a> and added a second Austrian family. They concluded on the basis of these studies that the syndrome was identical to that reported by <a href="#36" class="mim-tip-reference" title="Simpson, J. L., Landey, S., New, M., German, J. &lt;strong&gt;A previously unrecognized X-linked syndrome of dysmorphia.&lt;/strong&gt; Birth Defects Orig. Art. Ser. XI(2): 18-24, 1975."None>Simpson et al. (1975)</a> and <a href="#8" class="mim-tip-reference" title="Golabi, M., Rosen, L. &lt;strong&gt;A new X-linked mental retardation-overgrowth syndrome.&lt;/strong&gt; Am. J. Med. Genet. 17: 345-358, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6538755/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6538755&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320170128&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6538755">Golabi and Rosen (1984)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6538755+6490008+3177454" 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="#26" class="mim-tip-reference" title="Opitz, J. M. &lt;strong&gt;The Golabi-Rosen syndrome: report of a second family.&lt;/strong&gt; Am. J. Med. Genet. 17: 359-366, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6538756/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6538756&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320170129&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6538756">Opitz (1984)</a> reported a family in which 3 boys born to half sisters were affected. The nose in affected males was particularly similar to that in the patients of <a href="#8" class="mim-tip-reference" title="Golabi, M., Rosen, L. &lt;strong&gt;A new X-linked mental retardation-overgrowth syndrome.&lt;/strong&gt; Am. J. Med. Genet. 17: 345-358, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6538755/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6538755&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320170128&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6538755">Golabi and Rosen (1984)</a>. <a href="#25" class="mim-tip-reference" title="Opitz, J. M., Herrmann, J., Gilbert, E. F., Matalon, R. &lt;strong&gt;Simpson-Golabi-Behmel syndrome: follow-up of the Michigan family.&lt;/strong&gt; Am. J. Med. Genet. 30: 301-308, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3177456/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3177456&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320300131&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3177456">Opitz et al. (1988)</a> provided follow-up of 1 of the patients reported by <a href="#26" class="mim-tip-reference" title="Opitz, J. M. &lt;strong&gt;The Golabi-Rosen syndrome: report of a second family.&lt;/strong&gt; Am. J. Med. Genet. 17: 359-366, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6538756/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6538756&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320170129&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6538756">Opitz (1984)</a>. He died at age 25 months without attaining any psychomotor development and with a neurologic picture of irritability, hypotonia, seizures, deafness, and possible cortical blindness. Autopsy showed spongiform degeneration of brainstem and cerebrum; this patient may have had a different disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3177456+6538756+6538755" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Kajii, T., Tsukahara, M. &lt;strong&gt;The Golabi-Rosen syndrome. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 19: 819 only, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6542751/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6542751&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320190424&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6542751">Kajii and Tsukahara (1984)</a> reported a possible case, which was originally described by <a href="#38" class="mim-tip-reference" title="Tsukahara, M., Tanaka, S., Kajii, T. &lt;strong&gt;A Weaver-like syndrome in a Japanese boy.&lt;/strong&gt; Clin. Genet. 25: 73-78, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6705243/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6705243&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1984.tb00466.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6705243">Tsukahara et al. (1984)</a> as 'a Weaver-like syndrome.' <a href="#5" class="mim-tip-reference" title="Garganta, C. L., Bodurtha, J. N., Brown, J. A. &lt;strong&gt;A third family with Golabi-Rosen syndrome. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 43: A50, 1988."None>Garganta et al. (1988)</a> and <a href="#6" class="mim-tip-reference" title="Garganta, C. L., Bodurtha, J. N. &lt;strong&gt;Report of another family with Simpson-Golabi-Behmel syndrome and a review of the literature.&lt;/strong&gt; Am. J. Med. Genet. 44: 129-135, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1456279/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1456279&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320440202&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1456279">Garganta and Bodurtha (1992)</a> concluded on the basis of 2 affected brothers with overgrowth, macrocephaly, polydactyly, supernumerary nipples, and a characteristic facial appearance that mental retardation is not a consistent feature. One of the boys had pulmonic stenosis and cleft palate. One of the boys also had creases of the posterior helix, suggesting the Beckwith-Wiedemann syndrome. <a href="#5" class="mim-tip-reference" title="Garganta, C. L., Bodurtha, J. N., Brown, J. A. &lt;strong&gt;A third family with Golabi-Rosen syndrome. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 43: A50, 1988."None>Garganta et al. (1988)</a> suggested that the Simpson dysmorphia syndrome and Golabi-Rosen syndrome are the same disorder. <a href="#23" class="mim-tip-reference" title="Neri, G., Marini, R., Cappa, M., Borrelli, P., Opitz, J. M. &lt;strong&gt;Simpson-Golabi-Behmel syndrome: an X-linked encephalo-trophoschisis syndrome.&lt;/strong&gt; Am. J. Med. Genet. 30: 287-299, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3177455/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3177455&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320300130&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3177455">Neri et al. (1988)</a> reported an affected kindred. They commented on the high frequency of infant death, a finding noted by others, and stated that postaxial hexadactyly of the hands is an occasional feature. They suggested the designation 'Simpson-Golabi-Behmel syndrome.' An affected patient reported by <a href="#10" class="mim-tip-reference" title="Gurrieri, F., Cappa, M., Neri, G. &lt;strong&gt;Further delineation of the Simpson-Golabi-Behmel (SGB) syndrome.&lt;/strong&gt; Am. J. Med. Genet. 44: 136-137, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1456280/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1456280&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320440203&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1456280">Gurrieri et al. (1992)</a> also had postaxial polydactyly and extra nipples. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1456279+6542751+1456280+6705243+3177455" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Hughes-Benzie, R. M., Hunter, A. G. W., Allanson, J. E., Mackenzie, A. E. &lt;strong&gt;Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumor: localization of the gene to Xqcen-q21.&lt;/strong&gt; Am. J. Med. Genet. 43: 428-435, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1605222/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1605222&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320430165&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1605222">Hughes-Benzie et al. (1992)</a> reported a family with 6 affected males in 5 sibships in 3 generations. All had pre- and postnatal overgrowth, with 2 adult males attaining heights over 195 cm. Other features included coarse facies with hypertelorism, broad nasal root, cleft palate, full lips with a midline groove in the lower lip, grooved tongue with tongue tie, prominent mandible, congenital heart defects, arrhythmias, supernumerary nipples, splenomegaly, large dysplastic kidneys, cryptorchidism, hypospadias, and postaxial hexadactyly. All affected individuals were of normal intelligence. One affected male died at age 19 months of a neuroblastoma. Eight carriers who showed varying manifestations of the syndrome were identified. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1605222" 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="Ireland, M., Hughes-Benzie, R., Allanson, J., Besner, A., MacKenzie, A., Burn, J. &lt;strong&gt;Simpson-Golabi-Behmel syndrome in a 5 generation family: a clinical and molecular study. (Abstract)&lt;/strong&gt; Proc. Greenwood Genet. Center 12: 41-44, 1993."None>Ireland et al. (1993)</a> presented a 5-generation family. Overgrowth was present in 4 affected males and 3 out of 4 carrier females. The facial features in affected males included facial asymmetry with hypertelorism and upward slanting palpebral fissures. In addition, they had a broad nose, thin lips, and a prominent mandible. The palate was high-arched, the tongue was grooved and tethered with an anterior notch, and there was a groove in the lower lip. None of the affected males was mentally retarded. One of the affected males had bilateral hydronephrosis and a nonfunctioning kidney; another had bilateral cataracts diagnosed at age 2 years and retinal detachment at age 5 years. Facial features in carrier females included short, narrow palpebral fissures, upturned nasal tip with a prominent columella, and a prominent chin. Both affected males and carrier females showed extra lumbar and thoracic vertebrae and accessory nipples.</p><p>From a review of reported cases, <a href="#6" class="mim-tip-reference" title="Garganta, C. L., Bodurtha, J. N. &lt;strong&gt;Report of another family with Simpson-Golabi-Behmel syndrome and a review of the literature.&lt;/strong&gt; Am. J. Med. Genet. 44: 129-135, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1456279/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1456279&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320440202&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1456279">Garganta and Bodurtha (1992)</a> concluded that early perinatal and infant mortality is high in patients with SGBS. <a href="#37" class="mim-tip-reference" title="Terespolsky, D., Farrell, S. A., Siegel-Bartelt, J., Weksberg, R. &lt;strong&gt;Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis.&lt;/strong&gt; Am. J. Med. Genet. 59: 329-333, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8599356/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8599356&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320590310&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8599356">Terespolsky et al. (1995)</a> commented on the wide clinical range in reported cases of SGBS, ranging from a mild form associated with long-term survival to an early lethal form with multiple congenital anomalies and severe mental retardation. They found 8 reported families in which affected individuals died in infancy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1456279+8599356" 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="#19" class="mim-tip-reference" title="Konig, R., Fuchs, S., Kern, C., Langenbeck, U. &lt;strong&gt;Simpson-Golabi-Behmel syndrome with severe cardiac arrhythmias.&lt;/strong&gt; Am. J. Med. Genet. 38: 244-247, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2018065/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2018065&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320380215&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2018065">Konig et al. (1991)</a> suggested that cardiac arrhythmias may be a major component of the SGB syndrome and can be responsible for death in early infancy and perhaps for cardiac arrest in the adult. <a href="#21" class="mim-tip-reference" title="Lin, A. E., Neri, G., Hughes-Benzie, R., Weksberg, R. &lt;strong&gt;Cardiac anomalies in the Simpson-Golabi-Behmel syndrome.&lt;/strong&gt; Am. J. Med. Genet. 83: 378-381, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10232747/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10232747&lt;/a&gt;]" pmid="10232747">Lin et al. (1999)</a> concluded that cardiac abnormalities of any type are common in SGBS, occurring perhaps in almost one-half of cases, with cardiovascular malformations seen in one-third of cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2018065+10232747" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#22" class="mim-tip-reference" title="Neri, G., Gurrieri, F., Zanni, G., Lin, A. &lt;strong&gt;Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome.&lt;/strong&gt; Am. J. Med. Genet. 79: 279-283, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9781908/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9781908&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19981002)79:4&lt;279::aid-ajmg9&gt;3.0.co;2-h&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9781908">Neri et al. (1998)</a> reviewed the clinical and molecular aspects of SGBS. They emphasized that an increased risk of neoplasia in SGBS must be kept in mind, especially in young patients. They stated that Wilms tumor of the kidney had been found in several members of affected families in Canada (<a href="#13" class="mim-tip-reference" title="Hughes-Benzie, R. M., Hunter, A. G. W., Allanson, J. E., Mackenzie, A. E. &lt;strong&gt;Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumor: localization of the gene to Xqcen-q21.&lt;/strong&gt; Am. J. Med. Genet. 43: 428-435, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1605222/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1605222&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320430165&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1605222">Hughes-Benzie et al., 1992</a>; <a href="#42" class="mim-tip-reference" title="Xuan, J. Y., Besner, A., Ireland, M., Hughes-Benzie, R. M., MacKenzie, A. E. &lt;strong&gt;Mapping of Simpson-Golabi-Behmel syndrome to Xq25-q27.&lt;/strong&gt; Hum. Molec. Genet. 3: 133-137, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7909248/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7909248&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/3.1.133&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7909248">Xuan et al., 1994</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9781908+1605222+7909248" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Kim, S., Idowu, O., Chen, E. &lt;strong&gt;Choledochal cyst in Simpson-Golabi-Behmel syndrome. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 87: 267-270, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10564884/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10564884&lt;/a&gt;]" pmid="10564884">Kim et al. (1999)</a> reported choledochal cysts in SGB syndrome. The patient was a new member of a family with this disorder previously reported by <a href="#3" class="mim-tip-reference" title="Chen, E., Johnson, J. P., Cox, V. A., Golabi, M. &lt;strong&gt;Simpson-Golabi-Behmel syndrome: congenital diaphragmatic hernia and radiologic findings in two patients and follow-up of a previously reported case.&lt;/strong&gt; Am. J. Med. Genet. 46: 574-578, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8322824/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8322824&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320460523&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8322824">Chen et al. (1993)</a> and <a href="#8" class="mim-tip-reference" title="Golabi, M., Rosen, L. &lt;strong&gt;A new X-linked mental retardation-overgrowth syndrome.&lt;/strong&gt; Am. J. Med. Genet. 17: 345-358, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6538755/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6538755&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320170128&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6538755">Golabi and Rosen (1984)</a>. The diagnosis of SGBS had been suspected prenatally because of the family history and prenatal ultrasound findings of polyhydramnios, macrosomia, double-bubble sign suggestive of duodenal atresia, bilateral clubfoot, and visualization of a penis indicating male gender. At birth the length was 55 cm (97%). He had a coarse facial appearance, vertical furrows between the eyebrows, increased interpupillary distance, bifid uvula but no cleft lip or palate, and macrostomia. He had low-set, large floppy ears. The choledochal cyst was discovered at operation for other intraabdominal anomalies. <a href="#18" class="mim-tip-reference" title="Kim, S., Idowu, O., Chen, E. &lt;strong&gt;Choledochal cyst in Simpson-Golabi-Behmel syndrome. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 87: 267-270, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10564884/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10564884&lt;/a&gt;]" pmid="10564884">Kim et al. (1999)</a> provided an updated pedigree of the family with 7 affected individuals in 3 generations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8322824+6538755+10564884" 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="#9" class="mim-tip-reference" title="Griffith, C. B., Probert, R. C., Vance, G. H. &lt;strong&gt;Genital anomalies in three male siblings with Simpson-Golabi-Behmel syndrome.&lt;/strong&gt; Am. J. Med. Genet. 149A: 2484-2488, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19842194/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19842194&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33047&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="19842194">Griffith et al. (2009)</a> reported 3 brothers with SGBS, aged 20 months, 4 years, and 6 years, all of whom had cryptorchidism. The eldest brother also had chordee of the penis, penoscrotal hypospadias, and penoscrotal transposition requiring multiple surgeries. The authors stated that this was the first SGBS patient with such anomalies to survive beyond the neonatal period, and suggested that a range of genital anomalies should be considered a nonrandom feature of SGBS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19842194" 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="#35" class="mim-tip-reference" title="Schirwani, S., Novelli, A., Digilio, M. C., Bourn, D., Wilson, V., Roberts, C., Dallapiccola, B., Hobson, E. &lt;strong&gt;Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1.&lt;/strong&gt; Europ. J. Med. Genet. 62: 243-247, 2019.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/30048822/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;30048822&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ejmg.2018.07.022&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="30048822">Schirwani et al. (2019)</a> reported 2 families with SGBS1. In the first family, the male proband was born at 31 weeks' gestation and was noted to be dysmorphic with high-arched eyebrows, bilateral narrowing and upslanting palpebral fissures, low-set ears, long philtrum, and accessory nipples. He required repair of a patent vitellointestinal duct and a gastrostomy tube due to feeding difficulties. He also had bilateral cryptorchidism, right duplex kidney. Brain MRI showed enlarged lateral ventricles and reduced white matter volume. At age 3 years, he had significant developmental delay and kyphosis without scoliosis. His maternal uncle was born at 37 weeks' gestation, with hypotonia, feeding difficulties, coarse facial features, congenital diaphragmatic hernia, cryptorchidism, and global development delay. The proband's maternal aunt had feeding difficulties, requiring tube feeding for a prolonged period. She had umbilical hernia, dysmorphic features, a patent ductus arteriosus, and an atrial septal defect, which required surgical repair. When last evaluated at age 26 years, she had significantly impaired intellectual development (ID). The proband's mother had mildly impaired ID, but no other features of SGBS1. The proband's sister had speech delay, significantly impaired ID, and a diagnosis of autism. The proband's maternal grandmother died in her 40s from an unknown heart valve problem. In the second family, the proband was a female born at 39 weeks' gestation. She had bifrontal narrowing, epicanthal folds, elongated palpebral fissures, tubular nose, short philtrum, and thin upper lip. She also had aortic valve dysplasia, mitral valve prolapse, and a patent foramen ovale. Hands showed large index fingers, short terminal phalanges, and clinodactyly of some digits, and her first toe was valgus. At age 46 years, her father had narrow palpebral fissures, prominent nose, widely spaced teeth, nasal voice, and brachydactyly. <a href="#35" class="mim-tip-reference" title="Schirwani, S., Novelli, A., Digilio, M. C., Bourn, D., Wilson, V., Roberts, C., Dallapiccola, B., Hobson, E. &lt;strong&gt;Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1.&lt;/strong&gt; Europ. J. Med. Genet. 62: 243-247, 2019.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/30048822/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;30048822&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ejmg.2018.07.022&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="30048822">Schirwani et al. (2019)</a> noted that these families provided more evidence that carrier females can exhibit significant features of SGBS1; these patients had skewed X-inactivation, supporting its role in clinical expression of SGBS1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30048822" 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="Cureton, E., Guo, H., Idowu, O., Kim, S. &lt;strong&gt;Hepatic vascular malformation in a patient with Simpson-Golabi-Behmel syndrome.&lt;/strong&gt; Am. J. Med. Genet. 143A: 1379-1381, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17497720/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17497720&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.31756&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17497720">Cureton et al. (2007)</a> described a 2-year-old boy with SGBS who presented with a hepatic lesion, which upon resection was found to be a vascular malformation. The authors suggested that, in addition to developing visceral solid malignancies, SGBS patients may also be at risk for developing vascular malformations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17497720" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#28" class="mim-tip-reference" title="Penisson-Besnier, I., Lebouvier, T., Moizard, M.-P., Ferre, M., Barth, M., Marc, G., Raynaud, M., Bonneau, D. &lt;strong&gt;Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome.&lt;/strong&gt; Am. J. Med. Genet. 146A: 464-467, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18203194/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18203194&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32154&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18203194">Penisson-Besnier et al. (2008)</a> reported a 44-year-old man with classic SGBS, confirmed by genetic analysis (<a href="/entry/300037#0011">300037.0011</a>), who presented with acute internal carotid artery dissection. Radiography showed arterial redundancies of the affected artery. The authors postulated that the overgrowth involved in SGBS may have caused an increase in the length of the carotid, leading to coiling and thus to a greater risk of dissection. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18203194" 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>Simpson-Golabi-Behmel syndrome typically shows X-linked recessive inheritance. However, some female mutation carriers may show mild features, presumably due to skewed X-chromosome inactivation. <a href="#44" class="mim-tip-reference" title="Yano, S., Baskin, B., Bagheri, A., Watanabe, Y., Moseley, K., Nishimura, A., Matsumoto, N., Ray, P. N. &lt;strong&gt;Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations.&lt;/strong&gt; Clin. Genet. 80: 466-471, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20950395/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20950395&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2010.01554.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20950395">Yano et al. (2011)</a> reported a Jordanian family in which 3 sibs, a boy and a dizygotic twin boy and girl pair, had SGBS due to a truncating mutation in the GPC3 gene inherited from their mother, who had very subtle features of the disorder. The 2 boys had the classic disorder, including overgrowth, coarse facies, macroglossia, pectus excavatum, and developmental delay, whereas the girl had milder but suggestive features, such as developmental delay, macrocephaly, patent ductus arteriosus, and diaphragmatic hernia. The mother had normal intelligence and very mild signs, such as slight coarse facies and macrostomia. X-inactivation studies of blood, which is of mesodermal origin and appropriately reflects GPC3 expression, showed that the affected daughter had a wildtype:mutant ratio of 20-29:71-80 favoring expression of the mutant allele, whereas the mother had a 57:43 ratio with slight favoring of the normal allele. X-inactivation ratios were different in other tissues. Overall, the results provided an explanation for the different phenotypic manifestations of SGBS in the 2 female mutation carriers in this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20950395" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="diagnosis" class="mim-anchor"></a>
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<p><strong><em>Differential Diagnosis</em></strong></p><p>
<a href="#12" class="mim-tip-reference" title="Hughes-Benzie, R., Allanson, J., Hunter, A., Cole, T. &lt;strong&gt;The importance of differentiating Simpson-Golabi-Behmel and Beckwith-Wiedemann syndromes. (Letter)&lt;/strong&gt; J. Med. Genet. 29: 928 only, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1479609/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1479609&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.29.12.928-b&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1479609">Hughes-Benzie et al. (1992)</a> drew attention to the superficial similarities in the appearance of pedigrees segregating in an X-linked recessive pattern and those exhibiting an autosomal dominant pattern with imprinting of specific genes. As an illustration of the confusion, they referred to a family misdiagnosed as having Beckwith-Wiedemann syndrome, who was found to have SGBS based on clinical findings of postaxial polydactyly, midline groove in the lower lip, and more severely affected males (<a href="#24" class="mim-tip-reference" title="Niikawa, N., Ishikiriyama, S., Takahashi, S., Inagawa, A., Tonoki, H., Ohta, Y., Hase, N., Kamei, T., Kajii, T. &lt;strong&gt;The Wiedemann-Beckwith syndrome: pedigree studies on five families with evidence for autosomal dominant inheritance with variable expressivity.&lt;/strong&gt; Am. J. Med. Genet. 24: 41-55, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3706412/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3706412&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320240107&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3706412">Niikawa et al., 1986</a>; case 4). Shared clinical features of BWS and SGBS include macrosomia, macroglossia, cleft palate, visceromegaly, earlobe creases, hernias, neonatal hypoglycemia, and a risk of embryonal tumors. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3706412+1479609" 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="#42" class="mim-tip-reference" title="Xuan, J. Y., Besner, A., Ireland, M., Hughes-Benzie, R. M., MacKenzie, A. E. &lt;strong&gt;Mapping of Simpson-Golabi-Behmel syndrome to Xq25-q27.&lt;/strong&gt; Hum. Molec. Genet. 3: 133-137, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7909248/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7909248&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/3.1.133&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7909248">Xuan et al. (1994)</a> pointed to the report by <a href="#30" class="mim-tip-reference" title="Punnett, H. H., Kistermacher, M. L., Greene, A. E., Coriell, L. L. &lt;strong&gt;An (X;1) translocation, balanced, 46 chromosomes.&lt;/strong&gt; Cytogenet. Cell Genet. 13: 406-407, 1974.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4139001/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4139001&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1159/000130291&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4139001">Punnett et al. (1974)</a> of a female with a putative diagnosis of Beckwith-Wiedemann syndrome and a balanced reciprocal (X;1)(q26;q12) translocation. <a href="#42" class="mim-tip-reference" title="Xuan, J. Y., Besner, A., Ireland, M., Hughes-Benzie, R. M., MacKenzie, A. E. &lt;strong&gt;Mapping of Simpson-Golabi-Behmel syndrome to Xq25-q27.&lt;/strong&gt; Hum. Molec. Genet. 3: 133-137, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7909248/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7909248&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/3.1.133&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7909248">Xuan et al. (1994)</a> suggested that the description of the young woman was entirely compatible with SGBS and that the translocation may have disrupted the SGBS gene. <a href="#31" class="mim-tip-reference" title="Punnett, H. H. &lt;strong&gt;Simpson-Golabi-Behmel syndrome (SGBS) in a female with an X-autosome translocation. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 50: 391-393, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8209925/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8209925&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320500424&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8209925">Punnett (1994)</a> reexamined this 23-year-old patient who, in addition to typical manifestations, had diaphragmatic hernia and pulmonic valve stenosis, and concluded that she actually had SGBS. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4139001+8209925+7909248" 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="#39" class="mim-tip-reference" title="Verloes, A., Massart, B., Dehalleux, I., Langhendries, J.-P., Koulischer, L. &lt;strong&gt;Clinical overlap of Beckwith-Wiedemann, Perlman and Simpson-Golabi-Behmel syndromes: a diagnostic pitfall.&lt;/strong&gt; Clin. Genet. 47: 257-262, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7554352/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7554352&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1995.tb04307.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7554352">Verloes et al. (1995)</a> commented on the difficulties in the differential diagnosis of overgrowth syndromes in the neonatal period and the phenotypic overlap of BWS, SGB syndrome, and Perlman syndrome (<a href="/entry/267000">267000</a>). They suggested that it may be necessary to add genital ambiguity, hydramnios, and nephroblastomatosis to the clinical spectrum of Simpson-Golabi-Behmel syndrome and to keep in mind a possible risk for embryonal tumors in patients with this syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7554352" 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="Gertsch, E., Kirmani, S., Ackerman, M. J., Babovic-Vuksanovic, D. &lt;strong&gt;Transient QT interval prolongation in an infant with Simpson-Golabi-Behmel syndrome. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 152A: 2379-2382, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20683991/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20683991&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=20683991[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33561&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20683991">Gertsch et al. (2010)</a> reported a male infant initially diagnosed with Timothy syndrome (<a href="/entry/601005">601005</a>) after birth on the basis of QT interval prolongation in the neonatal period and syndactyly. At day 7 of life, the patient received an implantable cardioverter-defibrillator (ICD). However, genetic testing did not identify a mutation in the CACNA1C gene (<a href="/entry/114205">114205</a>), thus excluding a diagnosis of Timothy syndrome. Reevaluation of the patient showed that the syndactyly was postaxial and with bony fusion, not consistent with that observed in Timothy syndrome. Repeat genetic testing identified a truncating mutation in the GPC3 gene, confirming the diagnosis of SGBS. Other features in this infant included prenatal nuchal translucency on fetal imaging, high alpha-fetoprotein levels in the mother during pregnancy, macrosomia, hypoplastic index fingers, submucosal cleft palate, bifid uvula, and coarse facial features. The mother, who also carried the mutation, had tall stature, dolichocephaly, high-arched palate, pectus excavatum, joint laxity, and nonspecific T-wave abnormalities on EKG. The patient was found to have a normal QT interval at age 9 months, and the ICD was removed. <a href="#7" class="mim-tip-reference" title="Gertsch, E., Kirmani, S., Ackerman, M. J., Babovic-Vuksanovic, D. &lt;strong&gt;Transient QT interval prolongation in an infant with Simpson-Golabi-Behmel syndrome. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 152A: 2379-2382, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20683991/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20683991&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=20683991[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33561&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20683991">Gertsch et al. (2010)</a> emphasized the importance of distinguishing between Timothy syndrome and SGBS, since the former has a high incidence of neonatal mortality. They also noted that transient QT prolongation had not been reported in SGBS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20683991" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="mapping" class="mim-anchor"></a>
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<p>By linkage analysis in a large family segregating SGBS, <a href="#13" class="mim-tip-reference" title="Hughes-Benzie, R. M., Hunter, A. G. W., Allanson, J. E., Mackenzie, A. E. &lt;strong&gt;Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumor: localization of the gene to Xqcen-q21.&lt;/strong&gt; Am. J. Med. Genet. 43: 428-435, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1605222/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1605222&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320430165&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1605222">Hughes-Benzie et al. (1992)</a> found linkage to chromosome Xcen-q21.3 (maximum lod score of 2.81 at marker DXYS68.) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1605222" 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="Ireland, M., Hughes-Benzie, R., Allanson, J., Besner, A., MacKenzie, A., Burn, J. &lt;strong&gt;Simpson-Golabi-Behmel syndrome in a 5 generation family: a clinical and molecular study. (Abstract)&lt;/strong&gt; Proc. Greenwood Genet. Center 12: 41-44, 1993."None>Ireland et al. (1993)</a> presented preliminary data supporting linkage of SGBS to Xqcen-q22 markers. In more extensive linkage analyses of the family reported by <a href="#14" class="mim-tip-reference" title="Ireland, M., Hughes-Benzie, R., Allanson, J., Besner, A., MacKenzie, A., Burn, J. &lt;strong&gt;Simpson-Golabi-Behmel syndrome in a 5 generation family: a clinical and molecular study. (Abstract)&lt;/strong&gt; Proc. Greenwood Genet. Center 12: 41-44, 1993."None>Ireland et al. (1993)</a>, <a href="#42" class="mim-tip-reference" title="Xuan, J. Y., Besner, A., Ireland, M., Hughes-Benzie, R. M., MacKenzie, A. E. &lt;strong&gt;Mapping of Simpson-Golabi-Behmel syndrome to Xq25-q27.&lt;/strong&gt; Hum. Molec. Genet. 3: 133-137, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7909248/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7909248&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/3.1.133&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7909248">Xuan et al. (1994)</a> mapped the putative SGBS locus to Xq26; the closest linkage was to HPRT (<a href="/entry/308000">308000</a>) with a maximum lod score of 7.45 at theta = 0.00. Recombinations between SGBS and Xq markers placed the disease locus in the interval between DXS425 and DXS1123 on Xq25-q27. <a href="#27" class="mim-tip-reference" title="Orth, U., Gurrieri, F., Behmel, A., Genuardi, M., Cremer, M., Gal, A., Neri, G. &lt;strong&gt;Gene for Simpson-Golabi-Behmel syndrome is linked to HPRT in Xq26 in two European families.&lt;/strong&gt; Am. J. Med. Genet. 50: 388-390, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8209924/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8209924&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320500423&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8209924">Orth et al. (1994)</a> confirmed these data by the finding of close linkage of the disease locus and the HPRT gene (maximum lod = 4.45 at theta = 0.00) in an Austrian and an Italian family. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8209924+7909248" 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><strong><em>GPC3 Gene</em></strong></p><p>
<a href="#29" class="mim-tip-reference" title="Pilia, G., Hughes-Benzie, R. M., MacKenzie, A., Baybayan, P., Chen, E. Y., Huber, R., Neri, G., Cao, A., Forabosco, A., Schlessinger, D. &lt;strong&gt;Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome.&lt;/strong&gt; Nature Genet. 12: 241-247, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8589713/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8589713&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0396-241&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8589713">Pilia et al. (1996)</a> identified microdeletions in the GPC3 gene that cosegregated with SGBS in 3 affected families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8589713" 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 affected members of a family described by <a href="#42" class="mim-tip-reference" title="Xuan, J. Y., Besner, A., Ireland, M., Hughes-Benzie, R. M., MacKenzie, A. E. &lt;strong&gt;Mapping of Simpson-Golabi-Behmel syndrome to Xq25-q27.&lt;/strong&gt; Hum. Molec. Genet. 3: 133-137, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7909248/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7909248&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/3.1.133&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7909248">Xuan et al. (1994)</a>, <a href="#43" class="mim-tip-reference" title="Xuan, J. Y., Hughes-Benzie, R. M., MacKenzie, A. E. &lt;strong&gt;A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family.&lt;/strong&gt; J. Med. Genet. 36: 57-58, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9950367/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9950367&lt;/a&gt;]" pmid="9950367">Xuan et al. (1999)</a> identified a 13-bp deletion in the GPC3 gene (<a href="/entry/300037#0001">300037.0001</a>). <a href="#43" class="mim-tip-reference" title="Xuan, J. Y., Hughes-Benzie, R. M., MacKenzie, A. E. &lt;strong&gt;A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family.&lt;/strong&gt; J. Med. Genet. 36: 57-58, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9950367/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9950367&lt;/a&gt;]" pmid="9950367">Xuan et al. (1999)</a> confirmed their previous suggestion that a female in the family who had multiple thoracic hemivertebrae, Sprengel deformity of her right shoulder, and Wilms tumor did not carry the SGBS exon 2 deletion of the GPC3 gene. <a href="#43" class="mim-tip-reference" title="Xuan, J. Y., Hughes-Benzie, R. M., MacKenzie, A. E. &lt;strong&gt;A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family.&lt;/strong&gt; J. Med. Genet. 36: 57-58, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9950367/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9950367&lt;/a&gt;]" pmid="9950367">Xuan et al. (1999)</a> suggested that the presence of skeletal abnormalities and Wilms tumor in this patient may be due to a trans effect from the maternal carrier in this SGBS kindred. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9950367+7909248" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Li, M., Shuman, C., Fei, Y. L., Cutiongco, E., Bender, H. A., Stevens, C., Wilkins-Haug, L., Day-Salvatore, D., Yong, S. L., Geraghty, M. T., Squire, J., Weksberg, R. &lt;strong&gt;GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome.&lt;/strong&gt; Am. J. Med. Genet. 102: 161-168, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11477610/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11477610&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/1096-8628(20010801)102:2&lt;161::aid-ajmg1453&gt;3.0.co;2-o&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11477610">Li et al. (2001)</a> performed GPC3 deletion screening on 80 male patients with somatic overgrowth in the following categories: 19 with Simpson-Golabi-Behmel syndrome, 26 with possible SGBS, and 35 with Beckwith-Wiedemann syndrome. Using exon-specific PCR and Southern blot analysis, 7 GPC3 deletions were identified, 6 from the SGBS category and 1 from the possible SGBS category. None of the patients with Beckwith-Wiedemann syndrome had GPC3 deletions. GPC3 deletions were identified in 2 patients from families published previously as having other overgrowth syndromes: one with a diagnosis of Sotos syndrome (<a href="/entry/117550">117550</a>) and the other with Perlman syndrome with nephroblastomatosis. One patient developed hepatoblastoma, which had not previously been described in SGBS. Direct sequencing of all GPC3 exons of the 13 SGBS patients without deletions failed to identify any further mutations, suggesting that alternative silencing mechanisms and/or other genes may be involved in the pathogenesis of SGBS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11477610" 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="#32" class="mim-tip-reference" title="Rodriguez-Criado, G., Magano, L., Segovia, M., Gurrieri, F., Neri, G., Gonzalez-Meneses, A., Gomez de Terreros, I., Valdez, R., Gracia, R., Lapunzina, P. &lt;strong&gt;Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome.&lt;/strong&gt; Am. J. Med. Genet. 138A: 272-277, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16158429/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16158429&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30920&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16158429">Rodriguez-Criado et al. (2005)</a> described 2 molecularly confirmed families with SGBS. All patients had typical manifestations of SGBS, including some female relatives who had minor manifestations. Some patients had novel findings such as a deep V-shaped sella turcica and 6 lumbar vertebrae. Molecular studies in affected patients showed a deletion of exon 6 of the GPC3 gene in family 1 (<a href="/entry/300037#0008">300037.0008</a>) and an intronic mutation in the GPC3 gene in family 2 (<a href="/entry/300037#0009">300037.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16158429" 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="#33" class="mim-tip-reference" title="Romanelli, V., Arroyo, I., Rodriguez, J. I., Magano, L., Arias, P., Incera, I., Gracia-Bouthelier, R., Lapunzina, P. &lt;strong&gt;Germinal mosaicism in Simpson-Golabi-Behmel syndrome. (Letter)&lt;/strong&gt; Clin. Genet. 72: 384-386, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17850639/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17850639&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2007.00871.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17850639">Romanelli et al. (2007)</a> reported 2 brothers with SGBS caused by a truncating mutation in the GPC3 gene (<a href="/entry/300037#0010">300037.0010</a>). The mutation was not present in the mother, indicating germinal mosaicism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17850639" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#34" class="mim-tip-reference" title="Sakazume, S., Okamoto, N., Yamamoto, T., Kurosawa, K., Numabe, H., Ohashi, Y., Kako, Y., Nagai, T., Ohashi, H. &lt;strong&gt;GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome.&lt;/strong&gt; Am. J. Med. Genet. 143A: 1703-1707, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17603795/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17603795&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.31822&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17603795">Sakazume et al. (2007)</a> identified mutations in the GPC3 gene in 7 Japanese boys with SGBS. One of the boys had an affected younger brother. All the mutations were predicted to resulted in complete loss of function. Only 1 patient had a large deletion, and there were 5 nonsense and 1 frameshift mutation. There were no apparent genotype/phenotype correlations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17603795" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>GPC4 Gene</em></strong></p><p>
<a href="#40" class="mim-tip-reference" title="Veugelers, M., Vermeesch, J., Watanabe, K., Yamaguchi, Y., Marynen, P., David, G. &lt;strong&gt;GPC4, the gene for human K-glypican, flanks GPC3 on Xq26: deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome.&lt;/strong&gt; Genomics 53: 1-11, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9787072/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9787072&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/geno.1998.5465&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9787072">Veugelers et al. (1998)</a> found that 1 of the SGBS patients reported by <a href="#29" class="mim-tip-reference" title="Pilia, G., Hughes-Benzie, R. M., MacKenzie, A., Baybayan, P., Chen, E. Y., Huber, R., Neri, G., Cao, A., Forabosco, A., Schlessinger, D. &lt;strong&gt;Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome.&lt;/strong&gt; Nature Genet. 12: 241-247, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8589713/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8589713&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0396-241&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8589713">Pilia et al. (1996)</a> had a deletion of the entire GPC4 gene (<a href="/entry/300168">300168</a>) as well as deletion of the last 2 exons of GPC3. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8589713+9787072" 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 males with SGBS who were part of the original family reported by <a href="#8" class="mim-tip-reference" title="Golabi, M., Rosen, L. &lt;strong&gt;A new X-linked mental retardation-overgrowth syndrome.&lt;/strong&gt; Am. J. Med. Genet. 17: 345-358, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6538755/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6538755&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320170128&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6538755">Golabi and Rosen (1984)</a>, <a href="#41" class="mim-tip-reference" title="Waterson, J., Stockley, T. L., Segal, S., Golabi, M. &lt;strong&gt;Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 152A: 3179-3181, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21082656/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21082656&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33450&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21082656">Waterson et al. (2010)</a> found no mutations in exons or intron/exon boundaries of the GPC3 gene. However, multiple ligation-dependent probe amplification (MLPA) analysis identified a duplication of exons 1 through 9 of the GPC4 gene. Dosage studies in 1 of the patients confirmed the duplication, whereas dosage of the GPC3 gene was normal. The 2 genes are closely linked and encode similar proteoglycans. <a href="#41" class="mim-tip-reference" title="Waterson, J., Stockley, T. L., Segal, S., Golabi, M. &lt;strong&gt;Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 152A: 3179-3181, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21082656/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21082656&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33450&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21082656">Waterson et al. (2010)</a> suggested that the duplication may affect, and possibly decrease, expression of the GPC3 gene, thus leading to the phenotype. The phenotype of the 2 boys was consistent with SGBS, with features of an overgrowth syndrome, genitourinary anomalies, vertebral anomalies, clefting, and coarse facial features. <a href="#41" class="mim-tip-reference" title="Waterson, J., Stockley, T. L., Segal, S., Golabi, M. &lt;strong&gt;Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 152A: 3179-3181, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21082656/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21082656&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33450&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21082656">Waterson et al. (2010)</a> concluded that GPC4 testing should be considered in patients who have no identifiable GPC3 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6538755+21082656" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>GPC3 and GPC4 Duplications</em></strong></p><p>
<a href="#35" class="mim-tip-reference" title="Schirwani, S., Novelli, A., Digilio, M. C., Bourn, D., Wilson, V., Roberts, C., Dallapiccola, B., Hobson, E. &lt;strong&gt;Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1.&lt;/strong&gt; Europ. J. Med. Genet. 62: 243-247, 2019.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/30048822/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;30048822&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ejmg.2018.07.022&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="30048822">Schirwani et al. (2019)</a> reported 2 families with duplications involving both GPC3 and GPC4 in patients with Simpson-Golabi-Behmel syndrome type 1. In the first family, multiple ligation-dependent probe amplification (MLPA) analysis of the male proband showed 2 duplications, one in exon 7 of GPC3 and one in exons 2-9 of GPC4. In the second family, microarray analysis in the female proband identified 2 paternally inherited noncontiguous duplications on Xq26.2, with the first involving the entire GPC4 gene, and the second involving exons 3-7 of the GPC3 gene; the duplications were 260 kb and 127 kb, respectively. Males in these families had full expression of SGBS1, while female carriers with skewed X-inactivation had significant features of SGBS1, including congenital heart defects, hernias, impaired intellectual development, and coarse facial features. Female carriers without skewed X-inactivation did not have SGBS1 features. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30048822" 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="Gurrieri, F., Pomponi, M. G., Pietrobono, R., Lucci-Cordisco, E., Silvestri, E., Storniello, G., Neri, G. &lt;strong&gt;The Simpson-Golabi-Behmel syndrome: a clinical case and a detective story.&lt;/strong&gt; Am. J. Med. Genet. 155A: 145-148, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21204223/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21204223&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33586&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21204223">Gurrieri et al. (2011)</a> reported the discovery of what is believed to be the first case of SGBS on record, an infant boy born around 1940. The infant was ascertained through a male Italian proband, born in 2001, who presented with classic features of the disorder and was subsequently found to carry a truncating mutation in the GPC3 gene. Family history showed that the proband's mother, who was of above average height and developed a low-grade ovarian tumor at age 22 years, also carried the mutation in the heterozygous state. The proband's maternal grandmother also carried the mutation. Familial recollections revealed that the proband's maternal great-grandmother had 2 male macrosomic children who died in the neonatal period. One of these infants was placed in a jar in formaldehyde in the Ospedale Carlo Forlanini anatomical museum in Rome. This infant was located, noted to be macrosomic, and a skin biopsy confirmed that this boy was a carrier of the same truncating mutation found in other family members. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21204223" 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>REFERENCES</strong>
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<ol>
<li>
<a id="1" class="mim-anchor"></a>
<a id="Behmel1984" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Behmel, A., Plochl, E., Rosenkranz, W.
<strong>A new X-linked dysplasia gigantism syndrome: identical with the Simpson dysplasia syndrome?</strong>
Hum. Genet. 67: 409-413, 1984.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6490008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6490008</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6490008" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00291401" target="_blank">Full Text</a>]
</p>
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<li>
<a id="2" class="mim-anchor"></a>
<a id="Behmel1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Behmel, A., Plochl, E., Rosenkranz, W.
<strong>A new X-linked dysplasia gigantism syndrome: follow up in the first family and report on a second Austrian family.</strong>
Am. J. Med. Genet. 30: 275-285, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3177454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3177454</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3177454" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320300129" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
<a id="Chen1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Chen, E., Johnson, J. P., Cox, V. A., Golabi, M.
<strong>Simpson-Golabi-Behmel syndrome: congenital diaphragmatic hernia and radiologic findings in two patients and follow-up of a previously reported case.</strong>
Am. J. Med. Genet. 46: 574-578, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8322824/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8322824</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8322824" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320460523" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
<a id="Cureton2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Cureton, E., Guo, H., Idowu, O., Kim, S.
<strong>Hepatic vascular malformation in a patient with Simpson-Golabi-Behmel syndrome.</strong>
Am. J. Med. Genet. 143A: 1379-1381, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17497720/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17497720</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17497720" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.31756" target="_blank">Full Text</a>]
</p>
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<li>
<a id="5" class="mim-anchor"></a>
<a id="Garganta1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Garganta, C. L., Bodurtha, J. N., Brown, J. A.
<strong>A third family with Golabi-Rosen syndrome. (Abstract)</strong>
Am. J. Hum. Genet. 43: A50, 1988.
</p>
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<a id="6" class="mim-anchor"></a>
<a id="Garganta1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Garganta, C. L., Bodurtha, J. N.
<strong>Report of another family with Simpson-Golabi-Behmel syndrome and a review of the literature.</strong>
Am. J. Med. Genet. 44: 129-135, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1456279/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1456279</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1456279" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320440202" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
<a id="Gertsch2010" class="mim-anchor"></a>
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Gertsch, E., Kirmani, S., Ackerman, M. J., Babovic-Vuksanovic, D.
<strong>Transient QT interval prolongation in an infant with Simpson-Golabi-Behmel syndrome. (Letter)</strong>
Am. J. Med. Genet. 152A: 2379-2382, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20683991/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20683991</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20683991[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=20683991" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.33561" target="_blank">Full Text</a>]
</p>
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<li>
<a id="8" class="mim-anchor"></a>
<a id="Golabi1984" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Golabi, M., Rosen, L.
<strong>A new X-linked mental retardation-overgrowth syndrome.</strong>
Am. J. Med. Genet. 17: 345-358, 1984.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6538755/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6538755</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6538755" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320170128" target="_blank">Full Text</a>]
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<a id="9" class="mim-anchor"></a>
<a id="Griffith2009" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Griffith, C. B., Probert, R. C., Vance, G. H.
<strong>Genital anomalies in three male siblings with Simpson-Golabi-Behmel syndrome.</strong>
Am. J. Med. Genet. 149A: 2484-2488, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19842194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19842194</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19842194" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.33047" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
<a id="Gurrieri1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gurrieri, F., Cappa, M., Neri, G.
<strong>Further delineation of the Simpson-Golabi-Behmel (SGB) syndrome.</strong>
Am. J. Med. Genet. 44: 136-137, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1456280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1456280</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1456280" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320440203" target="_blank">Full Text</a>]
</p>
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<li>
<a id="11" class="mim-anchor"></a>
<a id="Gurrieri2011" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gurrieri, F., Pomponi, M. G., Pietrobono, R., Lucci-Cordisco, E., Silvestri, E., Storniello, G., Neri, G.
<strong>The Simpson-Golabi-Behmel syndrome: a clinical case and a detective story.</strong>
Am. J. Med. Genet. 155A: 145-148, 2011.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21204223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21204223</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21204223" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.33586" target="_blank">Full Text</a>]
</p>
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<li>
<a id="12" class="mim-anchor"></a>
<a id="Hughes-Benzie1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hughes-Benzie, R., Allanson, J., Hunter, A., Cole, T.
<strong>The importance of differentiating Simpson-Golabi-Behmel and Beckwith-Wiedemann syndromes. (Letter)</strong>
J. Med. Genet. 29: 928 only, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1479609/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1479609</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1479609" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.29.12.928-b" target="_blank">Full Text</a>]
</p>
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<a id="13" class="mim-anchor"></a>
<a id="Hughes-Benzie1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hughes-Benzie, R. M., Hunter, A. G. W., Allanson, J. E., Mackenzie, A. E.
<strong>Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumor: localization of the gene to Xqcen-q21.</strong>
Am. J. Med. Genet. 43: 428-435, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1605222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1605222</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1605222" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320430165" target="_blank">Full Text</a>]
</p>
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<li>
<a id="14" class="mim-anchor"></a>
<a id="Ireland1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ireland, M., Hughes-Benzie, R., Allanson, J., Besner, A., MacKenzie, A., Burn, J.
<strong>Simpson-Golabi-Behmel syndrome in a 5 generation family: a clinical and molecular study. (Abstract)</strong>
Proc. Greenwood Genet. Center 12: 41-44, 1993.
</p>
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<li>
<a id="15" class="mim-anchor"></a>
<a id="Kaariainen1981" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kaariainen, H.
<strong>Personal Communication.</strong>
Helsinki, Finland 5/27/1981.
</p>
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<li>
<a id="16" class="mim-anchor"></a>
<a id="Kaariainen1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kaariainen, H.
<strong>Personal Communication.</strong>
Helsinki, Finland 3/11/1982.
</p>
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</li>
<li>
<a id="17" class="mim-anchor"></a>
<a id="Kajii1984" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kajii, T., Tsukahara, M.
<strong>The Golabi-Rosen syndrome. (Letter)</strong>
Am. J. Med. Genet. 19: 819 only, 1984.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6542751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6542751</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6542751" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320190424" target="_blank">Full Text</a>]
</p>
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<a id="18" class="mim-anchor"></a>
<a id="Kim1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kim, S., Idowu, O., Chen, E.
<strong>Choledochal cyst in Simpson-Golabi-Behmel syndrome. (Letter)</strong>
Am. J. Med. Genet. 87: 267-270, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10564884/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10564884</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10564884" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="19" class="mim-anchor"></a>
<a id="Konig1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Konig, R., Fuchs, S., Kern, C., Langenbeck, U.
<strong>Simpson-Golabi-Behmel syndrome with severe cardiac arrhythmias.</strong>
Am. J. Med. Genet. 38: 244-247, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2018065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2018065</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2018065" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320380215" target="_blank">Full Text</a>]
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<a id="20" class="mim-anchor"></a>
<a id="Li2001" class="mim-anchor"></a>
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<p class="mim-text-font">
Li, M., Shuman, C., Fei, Y. L., Cutiongco, E., Bender, H. A., Stevens, C., Wilkins-Haug, L., Day-Salvatore, D., Yong, S. L., Geraghty, M. T., Squire, J., Weksberg, R.
<strong>GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome.</strong>
Am. J. Med. Genet. 102: 161-168, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11477610/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11477610</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11477610" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/1096-8628(20010801)102:2&lt;161::aid-ajmg1453&gt;3.0.co;2-o" target="_blank">Full Text</a>]
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<a id="21" class="mim-anchor"></a>
<a id="Lin1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lin, A. E., Neri, G., Hughes-Benzie, R., Weksberg, R.
<strong>Cardiac anomalies in the Simpson-Golabi-Behmel syndrome.</strong>
Am. J. Med. Genet. 83: 378-381, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10232747/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10232747</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10232747" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
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<a id="22" class="mim-anchor"></a>
<a id="Neri1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Neri, G., Gurrieri, F., Zanni, G., Lin, A.
<strong>Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome.</strong>
Am. J. Med. Genet. 79: 279-283, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9781908/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9781908</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9781908" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(sici)1096-8628(19981002)79:4&lt;279::aid-ajmg9&gt;3.0.co;2-h" target="_blank">Full Text</a>]
</p>
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<a id="23" class="mim-anchor"></a>
<a id="Neri1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Neri, G., Marini, R., Cappa, M., Borrelli, P., Opitz, J. M.
<strong>Simpson-Golabi-Behmel syndrome: an X-linked encephalo-trophoschisis syndrome.</strong>
Am. J. Med. Genet. 30: 287-299, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3177455/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3177455</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3177455" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320300130" target="_blank">Full Text</a>]
</p>
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<a id="24" class="mim-anchor"></a>
<a id="Niikawa1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Niikawa, N., Ishikiriyama, S., Takahashi, S., Inagawa, A., Tonoki, H., Ohta, Y., Hase, N., Kamei, T., Kajii, T.
<strong>The Wiedemann-Beckwith syndrome: pedigree studies on five families with evidence for autosomal dominant inheritance with variable expressivity.</strong>
Am. J. Med. Genet. 24: 41-55, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3706412/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3706412</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3706412" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320240107" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="25" class="mim-anchor"></a>
<a id="Opitz1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Opitz, J. M., Herrmann, J., Gilbert, E. F., Matalon, R.
<strong>Simpson-Golabi-Behmel syndrome: follow-up of the Michigan family.</strong>
Am. J. Med. Genet. 30: 301-308, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3177456/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3177456</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3177456" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320300131" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="26" class="mim-anchor"></a>
<a id="Opitz1984" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Opitz, J. M.
<strong>The Golabi-Rosen syndrome: report of a second family.</strong>
Am. J. Med. Genet. 17: 359-366, 1984.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6538756/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6538756</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6538756" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320170129" target="_blank">Full Text</a>]
</p>
</div>
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<a id="27" class="mim-anchor"></a>
<a id="Orth1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Orth, U., Gurrieri, F., Behmel, A., Genuardi, M., Cremer, M., Gal, A., Neri, G.
<strong>Gene for Simpson-Golabi-Behmel syndrome is linked to HPRT in Xq26 in two European families.</strong>
Am. J. Med. Genet. 50: 388-390, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8209924/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8209924</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8209924" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320500423" target="_blank">Full Text</a>]
</p>
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<li>
<a id="28" class="mim-anchor"></a>
<a id="Penisson-Besnier2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Penisson-Besnier, I., Lebouvier, T., Moizard, M.-P., Ferre, M., Barth, M., Marc, G., Raynaud, M., Bonneau, D.
<strong>Carotid artery dissection in an adult with the Simpson-Golabi-Behmel syndrome.</strong>
Am. J. Med. Genet. 146A: 464-467, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18203194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18203194</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18203194" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.32154" target="_blank">Full Text</a>]
</p>
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<a id="29" class="mim-anchor"></a>
<a id="Pilia1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Pilia, G., Hughes-Benzie, R. M., MacKenzie, A., Baybayan, P., Chen, E. Y., Huber, R., Neri, G., Cao, A., Forabosco, A., Schlessinger, D.
<strong>Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome.</strong>
Nature Genet. 12: 241-247, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8589713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8589713</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8589713" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng0396-241" target="_blank">Full Text</a>]
</p>
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<a id="30" class="mim-anchor"></a>
<a id="Punnett1974" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Punnett, H. H., Kistermacher, M. L., Greene, A. E., Coriell, L. L.
<strong>An (X;1) translocation, balanced, 46 chromosomes.</strong>
Cytogenet. Cell Genet. 13: 406-407, 1974.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4139001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4139001</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4139001" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1159/000130291" target="_blank">Full Text</a>]
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<a id="31" class="mim-anchor"></a>
<a id="Punnett1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Punnett, H. H.
<strong>Simpson-Golabi-Behmel syndrome (SGBS) in a female with an X-autosome translocation. (Letter)</strong>
Am. J. Med. Genet. 50: 391-393, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8209925/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8209925</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8209925" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320500424" target="_blank">Full Text</a>]
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<a id="32" class="mim-anchor"></a>
<a id="Rodriguez-Criado2005" class="mim-anchor"></a>
<div class="">
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Rodriguez-Criado, G., Magano, L., Segovia, M., Gurrieri, F., Neri, G., Gonzalez-Meneses, A., Gomez de Terreros, I., Valdez, R., Gracia, R., Lapunzina, P.
<strong>Clinical and molecular studies on two further families with Simpson-Golabi-Behmel syndrome.</strong>
Am. J. Med. Genet. 138A: 272-277, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16158429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16158429</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16158429" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.30920" target="_blank">Full Text</a>]
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<a id="33" class="mim-anchor"></a>
<a id="Romanelli2007" class="mim-anchor"></a>
<div class="">
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Romanelli, V., Arroyo, I., Rodriguez, J. I., Magano, L., Arias, P., Incera, I., Gracia-Bouthelier, R., Lapunzina, P.
<strong>Germinal mosaicism in Simpson-Golabi-Behmel syndrome. (Letter)</strong>
Clin. Genet. 72: 384-386, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17850639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17850639</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17850639" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.2007.00871.x" target="_blank">Full Text</a>]
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<a id="34" class="mim-anchor"></a>
<a id="Sakazume2007" class="mim-anchor"></a>
<div class="">
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Sakazume, S., Okamoto, N., Yamamoto, T., Kurosawa, K., Numabe, H., Ohashi, Y., Kako, Y., Nagai, T., Ohashi, H.
<strong>GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome.</strong>
Am. J. Med. Genet. 143A: 1703-1707, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17603795/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17603795</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17603795" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.31822" target="_blank">Full Text</a>]
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<a id="35" class="mim-anchor"></a>
<a id="Schirwani2019" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Schirwani, S., Novelli, A., Digilio, M. C., Bourn, D., Wilson, V., Roberts, C., Dallapiccola, B., Hobson, E.
<strong>Duplications of GPC3 and GPC4 genes in symptomatic female carriers of Simpson-Golabi-Behmel syndrome type 1.</strong>
Europ. J. Med. Genet. 62: 243-247, 2019.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30048822/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30048822</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30048822" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ejmg.2018.07.022" target="_blank">Full Text</a>]
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<a id="36" class="mim-anchor"></a>
<a id="Simpson1975" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Simpson, J. L., Landey, S., New, M., German, J.
<strong>A previously unrecognized X-linked syndrome of dysmorphia.</strong>
Birth Defects Orig. Art. Ser. XI(2): 18-24, 1975.
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<a id="Terespolsky1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Terespolsky, D., Farrell, S. A., Siegel-Bartelt, J., Weksberg, R.
<strong>Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis.</strong>
Am. J. Med. Genet. 59: 329-333, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8599356/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8599356</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8599356" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320590310" target="_blank">Full Text</a>]
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<a id="38" class="mim-anchor"></a>
<a id="Tsukahara1984" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Tsukahara, M., Tanaka, S., Kajii, T.
<strong>A Weaver-like syndrome in a Japanese boy.</strong>
Clin. Genet. 25: 73-78, 1984.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6705243/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6705243</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6705243" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1984.tb00466.x" target="_blank">Full Text</a>]
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<a id="Verloes1995" class="mim-anchor"></a>
<div class="">
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Verloes, A., Massart, B., Dehalleux, I., Langhendries, J.-P., Koulischer, L.
<strong>Clinical overlap of Beckwith-Wiedemann, Perlman and Simpson-Golabi-Behmel syndromes: a diagnostic pitfall.</strong>
Clin. Genet. 47: 257-262, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7554352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7554352</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7554352" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1995.tb04307.x" target="_blank">Full Text</a>]
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<a id="40" class="mim-anchor"></a>
<a id="Veugelers1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Veugelers, M., Vermeesch, J., Watanabe, K., Yamaguchi, Y., Marynen, P., David, G.
<strong>GPC4, the gene for human K-glypican, flanks GPC3 on Xq26: deletion of the GPC3-GPC4 gene cluster in one family with Simpson-Golabi-Behmel syndrome.</strong>
Genomics 53: 1-11, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9787072/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9787072</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9787072" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1006/geno.1998.5465" target="_blank">Full Text</a>]
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<a id="Waterson2010" class="mim-anchor"></a>
<div class="">
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Waterson, J., Stockley, T. L., Segal, S., Golabi, M.
<strong>Novel duplication in glypican-4 as an apparent cause of Simpson-Golabi-Behmel syndrome. (Letter)</strong>
Am. J. Med. Genet. 152A: 3179-3181, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21082656/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21082656</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21082656" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.33450" target="_blank">Full Text</a>]
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<a id="42" class="mim-anchor"></a>
<a id="Xuan1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Xuan, J. Y., Besner, A., Ireland, M., Hughes-Benzie, R. M., MacKenzie, A. E.
<strong>Mapping of Simpson-Golabi-Behmel syndrome to Xq25-q27.</strong>
Hum. Molec. Genet. 3: 133-137, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7909248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7909248</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7909248" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/3.1.133" target="_blank">Full Text</a>]
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<a id="43" class="mim-anchor"></a>
<a id="Xuan1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Xuan, J. Y., Hughes-Benzie, R. M., MacKenzie, A. E.
<strong>A small interstitial deletion in the GPC3 gene causes Simpson-Golabi-Behmel syndrome in a Dutch-Canadian family.</strong>
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</p>
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<a id="44" class="mim-anchor"></a>
<a id="Yano2011" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Yano, S., Baskin, B., Bagheri, A., Watanabe, Y., Moseley, K., Nishimura, A., Matsumoto, N., Ray, P. N.
<strong>Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations.</strong>
Clin. Genet. 80: 466-471, 2011.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20950395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20950395</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20950395" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.2010.01554.x" target="_blank">Full Text</a>]
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Sonja A. Rasmussen - updated : 09/15/2020
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Marla J. F. O'Neill - updated : 02/21/2013<br>Cassandra L. Kniffin - updated : 1/4/2012<br>Cassandra L. Kniffin - updated : 12/21/2011<br>Cassandra L. Kniffin - updated : 10/27/2011<br>Cassandra L. Kniffin - updated : 6/20/2011<br>Cassandra L. Kniffin - updated : 2/16/2010<br>Cassandra L. Kniffin - updated : 9/3/2008<br>Cassandra L. Kniffin - updated : 2/25/2008<br>Cassandra L. Kniffin - updated : 1/8/2008<br>Marla J. F. O'Neill - updated : 7/5/2007<br>Victor A. McKusick - updated : 12/1/2006<br>Cassandra L. Kniffin - reorganized : 11/29/2006<br>Sonja A. Rasmussen - updated : 8/24/2001<br>Victor A. McKusick - updated : 12/6/1999<br>Victor A. McKusick - updated : 9/20/1999<br>Victor A. McKusick - updated : 4/22/1999<br>Michael J. Wright - updated : 2/12/1999<br>Patti M. Sherman - updated : 2/4/1999<br>Victor A. McKusick - updated : 10/28/1998<br>Victor A. McKusick - updated : 4/4/1997<br>Iosif W. Lurie - updated : 8/12/1996
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Victor A. McKusick : 6/4/1986
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<strong>#</strong> 312870
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SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1; SGBS1
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<em>Alternative titles; symbols</em>
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SGBS<br />
BULLDOG SYNDROME<br />
DYSPLASIA GIGANTISM SYNDROME, X-LINKED; DGSX<br />
GOLABI-ROSEN SYNDROME<br />
SIMPSON DYSMORPHIA SYNDROME; SDYS
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<strong>ORPHA:</strong> 373; &nbsp;
<strong>DO:</strong> 0060248; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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Xq26.2
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Simpson-Golabi-Behmel syndrome, type 1
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312870
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X-linked recessive
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3
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GPC3
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300037
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that the Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is caused by mutation in the gene encoding glypican-3 (GPC3; 300037) on chromosome Xq26.</p><p>Some evidence suggests that disruption of the GPC4 gene (300168), which is adjacent to the GPC3 gene, may also cause the disorder (see MOLECULAR GENETICS).</p>
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<strong>Description</strong>
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<p>Simpson-Golabi-Behmel syndrome is an X-linked condition characterized by pre- and postnatal overgrowth, coarse facies, congenital heart defects, and other congenital abnormalities (Xuan et al., 1999). It shows phenotypic similarities to Beckwith-Wiedemann syndrome (BWS; 130650), another overgrowth syndrome. </p><p><strong><em>Genetic Heterogeneity of Simpson-Golabi-Behmel Syndrome</em></strong></p><p>
See Simpson-Golabi-Behmel syndrome type 2 (SGBS2; 300209), caused by mutation in the OFD1 gene (300170) on chromosome Xp22.</p>
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<strong>Clinical Features</strong>
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<p>Simpson et al. (1975) reported 2 male first cousins, sons of sisters, who had a distinctive facial appearance, including a large protruding jaw, widened nasal bridge, upturned nasal tip, and enlarged tongue. Other features included broad stocky appearance and broad, short hands and fingers. One of the patients had clefting of the lower lip. Intelligence was normal. The family referred to the appearance as 'bulldog'-like. Laboratory tests excluded hypothyroidism. Close linkage with the Xg blood group locus was excluded.</p><p>Kaariainen (1981) observed a tall (192 cm) 40-year-old man with operated pectus excavatum, ventricular septal defect, central cleft of the lower lip, peculiar cup-shaped ears with knobbiness and nodularity, short clubbed terminal phalanges, low-pitched voice, and cataracts developing at age 35. The parents, who came from different parts of Finland, were 170 and 160 cm tall. A brother, height 180 cm, died at age 18 years of ventricular septal defect and pulmonary hypertension. He looked like the surviving brother and quite different from other members of the family. Kaariainen (1982) concluded that the disorder was the same as that described by Simpson et al. (1975).</p><p>Golabi and Rosen (1984) reported a family in which 4 males in 4 sibships spanning 3 generations connected through females had prenatal and postnatal overgrowth; short, broad, upturned nose; large mouth, midline groove of tongue, inferior alveolar ridge and lower lip; submucous cleft palate; 13 ribs; Meckel diverticulum; intestinal malrotation; coccygeal skin tag and bony appendage; hypoplastic index fingernails; unilateral postaxial polydactyly; and bilateral syndactyly of fingers 2 and 3. Mental retardation was also a feature. The carrier mother of the propositus had a large mouth, coccygeal skin tag and bony appendage, and hypoplastic index fingernails. Behmel et al. (1988) suggested that the mental retardation in the family reported by Golabi and Rosen (1984) may have had a basis unrelated to the rest of the syndrome. Intelligence in the dysplasia gigantism syndrome is usually normal or only mildly retarded. Chen et al. (1993) reported the birth of a fifth affected male in the family reported by Golabi and Rosen (1984) and provided a follow-up of a patient who was 8 years old at the time of the initial report. He was 190 cm tall, had coarse facial features, micrognathia, short fingers, and dental abnormalities. Problems with speech and psychosocial development were also described. The newborn member of the family and a second unrelated male with this syndrome were found to have congenital diaphragmatic hernia. On the basis of these cases, Chen et al. (1993) noted that radiologic findings include flaring of the iliac wings, narrow sacroiliac notches, and the presence of 2 carpal ossification centers as a newborn ('advanced bone age'). </p><p>In a pedigree pattern consistent with X-linked recessive inheritance, Behmel et al. (1984) observed 11 male newborns with a syndrome similar to that described by Simpson et al. (1975): elevated birth weight and length; disproportionately large head with coarse, distinctive facies; short neck; slight obesity; and broad, short hands and feet. The affected males who reached adulthood attained heights of about 2 m; their unusual facial and general appearance and clumsiness, remarkable during infancy and childhood, became somewhat less conspicuous. In all but 1, intelligence was normal, as it was in the 2 cases of Simpson et al. (1975). Behmel et al. (1988) provided follow-up on the family reported by Behmel et al. (1984) and added a second Austrian family. They concluded on the basis of these studies that the syndrome was identical to that reported by Simpson et al. (1975) and Golabi and Rosen (1984). </p><p>Opitz (1984) reported a family in which 3 boys born to half sisters were affected. The nose in affected males was particularly similar to that in the patients of Golabi and Rosen (1984). Opitz et al. (1988) provided follow-up of 1 of the patients reported by Opitz (1984). He died at age 25 months without attaining any psychomotor development and with a neurologic picture of irritability, hypotonia, seizures, deafness, and possible cortical blindness. Autopsy showed spongiform degeneration of brainstem and cerebrum; this patient may have had a different disorder. </p><p>Kajii and Tsukahara (1984) reported a possible case, which was originally described by Tsukahara et al. (1984) as 'a Weaver-like syndrome.' Garganta et al. (1988) and Garganta and Bodurtha (1992) concluded on the basis of 2 affected brothers with overgrowth, macrocephaly, polydactyly, supernumerary nipples, and a characteristic facial appearance that mental retardation is not a consistent feature. One of the boys had pulmonic stenosis and cleft palate. One of the boys also had creases of the posterior helix, suggesting the Beckwith-Wiedemann syndrome. Garganta et al. (1988) suggested that the Simpson dysmorphia syndrome and Golabi-Rosen syndrome are the same disorder. Neri et al. (1988) reported an affected kindred. They commented on the high frequency of infant death, a finding noted by others, and stated that postaxial hexadactyly of the hands is an occasional feature. They suggested the designation 'Simpson-Golabi-Behmel syndrome.' An affected patient reported by Gurrieri et al. (1992) also had postaxial polydactyly and extra nipples. </p><p>Hughes-Benzie et al. (1992) reported a family with 6 affected males in 5 sibships in 3 generations. All had pre- and postnatal overgrowth, with 2 adult males attaining heights over 195 cm. Other features included coarse facies with hypertelorism, broad nasal root, cleft palate, full lips with a midline groove in the lower lip, grooved tongue with tongue tie, prominent mandible, congenital heart defects, arrhythmias, supernumerary nipples, splenomegaly, large dysplastic kidneys, cryptorchidism, hypospadias, and postaxial hexadactyly. All affected individuals were of normal intelligence. One affected male died at age 19 months of a neuroblastoma. Eight carriers who showed varying manifestations of the syndrome were identified. </p><p>Ireland et al. (1993) presented a 5-generation family. Overgrowth was present in 4 affected males and 3 out of 4 carrier females. The facial features in affected males included facial asymmetry with hypertelorism and upward slanting palpebral fissures. In addition, they had a broad nose, thin lips, and a prominent mandible. The palate was high-arched, the tongue was grooved and tethered with an anterior notch, and there was a groove in the lower lip. None of the affected males was mentally retarded. One of the affected males had bilateral hydronephrosis and a nonfunctioning kidney; another had bilateral cataracts diagnosed at age 2 years and retinal detachment at age 5 years. Facial features in carrier females included short, narrow palpebral fissures, upturned nasal tip with a prominent columella, and a prominent chin. Both affected males and carrier females showed extra lumbar and thoracic vertebrae and accessory nipples.</p><p>From a review of reported cases, Garganta and Bodurtha (1992) concluded that early perinatal and infant mortality is high in patients with SGBS. Terespolsky et al. (1995) commented on the wide clinical range in reported cases of SGBS, ranging from a mild form associated with long-term survival to an early lethal form with multiple congenital anomalies and severe mental retardation. They found 8 reported families in which affected individuals died in infancy. </p><p>Konig et al. (1991) suggested that cardiac arrhythmias may be a major component of the SGB syndrome and can be responsible for death in early infancy and perhaps for cardiac arrest in the adult. Lin et al. (1999) concluded that cardiac abnormalities of any type are common in SGBS, occurring perhaps in almost one-half of cases, with cardiovascular malformations seen in one-third of cases. </p><p>Neri et al. (1998) reviewed the clinical and molecular aspects of SGBS. They emphasized that an increased risk of neoplasia in SGBS must be kept in mind, especially in young patients. They stated that Wilms tumor of the kidney had been found in several members of affected families in Canada (Hughes-Benzie et al., 1992; Xuan et al., 1994). </p><p>Kim et al. (1999) reported choledochal cysts in SGB syndrome. The patient was a new member of a family with this disorder previously reported by Chen et al. (1993) and Golabi and Rosen (1984). The diagnosis of SGBS had been suspected prenatally because of the family history and prenatal ultrasound findings of polyhydramnios, macrosomia, double-bubble sign suggestive of duodenal atresia, bilateral clubfoot, and visualization of a penis indicating male gender. At birth the length was 55 cm (97%). He had a coarse facial appearance, vertical furrows between the eyebrows, increased interpupillary distance, bifid uvula but no cleft lip or palate, and macrostomia. He had low-set, large floppy ears. The choledochal cyst was discovered at operation for other intraabdominal anomalies. Kim et al. (1999) provided an updated pedigree of the family with 7 affected individuals in 3 generations. </p><p>Griffith et al. (2009) reported 3 brothers with SGBS, aged 20 months, 4 years, and 6 years, all of whom had cryptorchidism. The eldest brother also had chordee of the penis, penoscrotal hypospadias, and penoscrotal transposition requiring multiple surgeries. The authors stated that this was the first SGBS patient with such anomalies to survive beyond the neonatal period, and suggested that a range of genital anomalies should be considered a nonrandom feature of SGBS. </p><p>Schirwani et al. (2019) reported 2 families with SGBS1. In the first family, the male proband was born at 31 weeks' gestation and was noted to be dysmorphic with high-arched eyebrows, bilateral narrowing and upslanting palpebral fissures, low-set ears, long philtrum, and accessory nipples. He required repair of a patent vitellointestinal duct and a gastrostomy tube due to feeding difficulties. He also had bilateral cryptorchidism, right duplex kidney. Brain MRI showed enlarged lateral ventricles and reduced white matter volume. At age 3 years, he had significant developmental delay and kyphosis without scoliosis. His maternal uncle was born at 37 weeks' gestation, with hypotonia, feeding difficulties, coarse facial features, congenital diaphragmatic hernia, cryptorchidism, and global development delay. The proband's maternal aunt had feeding difficulties, requiring tube feeding for a prolonged period. She had umbilical hernia, dysmorphic features, a patent ductus arteriosus, and an atrial septal defect, which required surgical repair. When last evaluated at age 26 years, she had significantly impaired intellectual development (ID). The proband's mother had mildly impaired ID, but no other features of SGBS1. The proband's sister had speech delay, significantly impaired ID, and a diagnosis of autism. The proband's maternal grandmother died in her 40s from an unknown heart valve problem. In the second family, the proband was a female born at 39 weeks' gestation. She had bifrontal narrowing, epicanthal folds, elongated palpebral fissures, tubular nose, short philtrum, and thin upper lip. She also had aortic valve dysplasia, mitral valve prolapse, and a patent foramen ovale. Hands showed large index fingers, short terminal phalanges, and clinodactyly of some digits, and her first toe was valgus. At age 46 years, her father had narrow palpebral fissures, prominent nose, widely spaced teeth, nasal voice, and brachydactyly. Schirwani et al. (2019) noted that these families provided more evidence that carrier females can exhibit significant features of SGBS1; these patients had skewed X-inactivation, supporting its role in clinical expression of SGBS1. </p>
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<strong>Other Features</strong>
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<p>Cureton et al. (2007) described a 2-year-old boy with SGBS who presented with a hepatic lesion, which upon resection was found to be a vascular malformation. The authors suggested that, in addition to developing visceral solid malignancies, SGBS patients may also be at risk for developing vascular malformations. </p><p>Penisson-Besnier et al. (2008) reported a 44-year-old man with classic SGBS, confirmed by genetic analysis (300037.0011), who presented with acute internal carotid artery dissection. Radiography showed arterial redundancies of the affected artery. The authors postulated that the overgrowth involved in SGBS may have caused an increase in the length of the carotid, leading to coiling and thus to a greater risk of dissection. </p>
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<strong>Inheritance</strong>
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<p>Simpson-Golabi-Behmel syndrome typically shows X-linked recessive inheritance. However, some female mutation carriers may show mild features, presumably due to skewed X-chromosome inactivation. Yano et al. (2011) reported a Jordanian family in which 3 sibs, a boy and a dizygotic twin boy and girl pair, had SGBS due to a truncating mutation in the GPC3 gene inherited from their mother, who had very subtle features of the disorder. The 2 boys had the classic disorder, including overgrowth, coarse facies, macroglossia, pectus excavatum, and developmental delay, whereas the girl had milder but suggestive features, such as developmental delay, macrocephaly, patent ductus arteriosus, and diaphragmatic hernia. The mother had normal intelligence and very mild signs, such as slight coarse facies and macrostomia. X-inactivation studies of blood, which is of mesodermal origin and appropriately reflects GPC3 expression, showed that the affected daughter had a wildtype:mutant ratio of 20-29:71-80 favoring expression of the mutant allele, whereas the mother had a 57:43 ratio with slight favoring of the normal allele. X-inactivation ratios were different in other tissues. Overall, the results provided an explanation for the different phenotypic manifestations of SGBS in the 2 female mutation carriers in this family. </p>
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<strong>Diagnosis</strong>
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<p><strong><em>Differential Diagnosis</em></strong></p><p>
Hughes-Benzie et al. (1992) drew attention to the superficial similarities in the appearance of pedigrees segregating in an X-linked recessive pattern and those exhibiting an autosomal dominant pattern with imprinting of specific genes. As an illustration of the confusion, they referred to a family misdiagnosed as having Beckwith-Wiedemann syndrome, who was found to have SGBS based on clinical findings of postaxial polydactyly, midline groove in the lower lip, and more severely affected males (Niikawa et al., 1986; case 4). Shared clinical features of BWS and SGBS include macrosomia, macroglossia, cleft palate, visceromegaly, earlobe creases, hernias, neonatal hypoglycemia, and a risk of embryonal tumors. </p><p>Xuan et al. (1994) pointed to the report by Punnett et al. (1974) of a female with a putative diagnosis of Beckwith-Wiedemann syndrome and a balanced reciprocal (X;1)(q26;q12) translocation. Xuan et al. (1994) suggested that the description of the young woman was entirely compatible with SGBS and that the translocation may have disrupted the SGBS gene. Punnett (1994) reexamined this 23-year-old patient who, in addition to typical manifestations, had diaphragmatic hernia and pulmonic valve stenosis, and concluded that she actually had SGBS. </p><p>Verloes et al. (1995) commented on the difficulties in the differential diagnosis of overgrowth syndromes in the neonatal period and the phenotypic overlap of BWS, SGB syndrome, and Perlman syndrome (267000). They suggested that it may be necessary to add genital ambiguity, hydramnios, and nephroblastomatosis to the clinical spectrum of Simpson-Golabi-Behmel syndrome and to keep in mind a possible risk for embryonal tumors in patients with this syndrome. </p><p>Gertsch et al. (2010) reported a male infant initially diagnosed with Timothy syndrome (601005) after birth on the basis of QT interval prolongation in the neonatal period and syndactyly. At day 7 of life, the patient received an implantable cardioverter-defibrillator (ICD). However, genetic testing did not identify a mutation in the CACNA1C gene (114205), thus excluding a diagnosis of Timothy syndrome. Reevaluation of the patient showed that the syndactyly was postaxial and with bony fusion, not consistent with that observed in Timothy syndrome. Repeat genetic testing identified a truncating mutation in the GPC3 gene, confirming the diagnosis of SGBS. Other features in this infant included prenatal nuchal translucency on fetal imaging, high alpha-fetoprotein levels in the mother during pregnancy, macrosomia, hypoplastic index fingers, submucosal cleft palate, bifid uvula, and coarse facial features. The mother, who also carried the mutation, had tall stature, dolichocephaly, high-arched palate, pectus excavatum, joint laxity, and nonspecific T-wave abnormalities on EKG. The patient was found to have a normal QT interval at age 9 months, and the ICD was removed. Gertsch et al. (2010) emphasized the importance of distinguishing between Timothy syndrome and SGBS, since the former has a high incidence of neonatal mortality. They also noted that transient QT prolongation had not been reported in SGBS. </p>
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<strong>Mapping</strong>
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<p>By linkage analysis in a large family segregating SGBS, Hughes-Benzie et al. (1992) found linkage to chromosome Xcen-q21.3 (maximum lod score of 2.81 at marker DXYS68.) </p><p>Ireland et al. (1993) presented preliminary data supporting linkage of SGBS to Xqcen-q22 markers. In more extensive linkage analyses of the family reported by Ireland et al. (1993), Xuan et al. (1994) mapped the putative SGBS locus to Xq26; the closest linkage was to HPRT (308000) with a maximum lod score of 7.45 at theta = 0.00. Recombinations between SGBS and Xq markers placed the disease locus in the interval between DXS425 and DXS1123 on Xq25-q27. Orth et al. (1994) confirmed these data by the finding of close linkage of the disease locus and the HPRT gene (maximum lod = 4.45 at theta = 0.00) in an Austrian and an Italian family. </p>
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<strong>Molecular Genetics</strong>
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<p><strong><em>GPC3 Gene</em></strong></p><p>
Pilia et al. (1996) identified microdeletions in the GPC3 gene that cosegregated with SGBS in 3 affected families. </p><p>In affected members of a family described by Xuan et al. (1994), Xuan et al. (1999) identified a 13-bp deletion in the GPC3 gene (300037.0001). Xuan et al. (1999) confirmed their previous suggestion that a female in the family who had multiple thoracic hemivertebrae, Sprengel deformity of her right shoulder, and Wilms tumor did not carry the SGBS exon 2 deletion of the GPC3 gene. Xuan et al. (1999) suggested that the presence of skeletal abnormalities and Wilms tumor in this patient may be due to a trans effect from the maternal carrier in this SGBS kindred. </p><p>Li et al. (2001) performed GPC3 deletion screening on 80 male patients with somatic overgrowth in the following categories: 19 with Simpson-Golabi-Behmel syndrome, 26 with possible SGBS, and 35 with Beckwith-Wiedemann syndrome. Using exon-specific PCR and Southern blot analysis, 7 GPC3 deletions were identified, 6 from the SGBS category and 1 from the possible SGBS category. None of the patients with Beckwith-Wiedemann syndrome had GPC3 deletions. GPC3 deletions were identified in 2 patients from families published previously as having other overgrowth syndromes: one with a diagnosis of Sotos syndrome (117550) and the other with Perlman syndrome with nephroblastomatosis. One patient developed hepatoblastoma, which had not previously been described in SGBS. Direct sequencing of all GPC3 exons of the 13 SGBS patients without deletions failed to identify any further mutations, suggesting that alternative silencing mechanisms and/or other genes may be involved in the pathogenesis of SGBS. </p><p>Rodriguez-Criado et al. (2005) described 2 molecularly confirmed families with SGBS. All patients had typical manifestations of SGBS, including some female relatives who had minor manifestations. Some patients had novel findings such as a deep V-shaped sella turcica and 6 lumbar vertebrae. Molecular studies in affected patients showed a deletion of exon 6 of the GPC3 gene in family 1 (300037.0008) and an intronic mutation in the GPC3 gene in family 2 (300037.0009). </p><p>Romanelli et al. (2007) reported 2 brothers with SGBS caused by a truncating mutation in the GPC3 gene (300037.0010). The mutation was not present in the mother, indicating germinal mosaicism. </p><p>Sakazume et al. (2007) identified mutations in the GPC3 gene in 7 Japanese boys with SGBS. One of the boys had an affected younger brother. All the mutations were predicted to resulted in complete loss of function. Only 1 patient had a large deletion, and there were 5 nonsense and 1 frameshift mutation. There were no apparent genotype/phenotype correlations. </p><p><strong><em>GPC4 Gene</em></strong></p><p>
Veugelers et al. (1998) found that 1 of the SGBS patients reported by Pilia et al. (1996) had a deletion of the entire GPC4 gene (300168) as well as deletion of the last 2 exons of GPC3. </p><p>In 2 males with SGBS who were part of the original family reported by Golabi and Rosen (1984), Waterson et al. (2010) found no mutations in exons or intron/exon boundaries of the GPC3 gene. However, multiple ligation-dependent probe amplification (MLPA) analysis identified a duplication of exons 1 through 9 of the GPC4 gene. Dosage studies in 1 of the patients confirmed the duplication, whereas dosage of the GPC3 gene was normal. The 2 genes are closely linked and encode similar proteoglycans. Waterson et al. (2010) suggested that the duplication may affect, and possibly decrease, expression of the GPC3 gene, thus leading to the phenotype. The phenotype of the 2 boys was consistent with SGBS, with features of an overgrowth syndrome, genitourinary anomalies, vertebral anomalies, clefting, and coarse facial features. Waterson et al. (2010) concluded that GPC4 testing should be considered in patients who have no identifiable GPC3 mutations. </p><p><strong><em>GPC3 and GPC4 Duplications</em></strong></p><p>
Schirwani et al. (2019) reported 2 families with duplications involving both GPC3 and GPC4 in patients with Simpson-Golabi-Behmel syndrome type 1. In the first family, multiple ligation-dependent probe amplification (MLPA) analysis of the male proband showed 2 duplications, one in exon 7 of GPC3 and one in exons 2-9 of GPC4. In the second family, microarray analysis in the female proband identified 2 paternally inherited noncontiguous duplications on Xq26.2, with the first involving the entire GPC4 gene, and the second involving exons 3-7 of the GPC3 gene; the duplications were 260 kb and 127 kb, respectively. Males in these families had full expression of SGBS1, while female carriers with skewed X-inactivation had significant features of SGBS1, including congenital heart defects, hernias, impaired intellectual development, and coarse facial features. Female carriers without skewed X-inactivation did not have SGBS1 features. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Gurrieri et al. (2011) reported the discovery of what is believed to be the first case of SGBS on record, an infant boy born around 1940. The infant was ascertained through a male Italian proband, born in 2001, who presented with classic features of the disorder and was subsequently found to carry a truncating mutation in the GPC3 gene. Family history showed that the proband's mother, who was of above average height and developed a low-grade ovarian tumor at age 22 years, also carried the mutation in the heterozygous state. The proband's maternal grandmother also carried the mutation. Familial recollections revealed that the proband's maternal great-grandmother had 2 male macrosomic children who died in the neonatal period. One of these infants was placed in a jar in formaldehyde in the Ospedale Carlo Forlanini anatomical museum in Rome. This infant was located, noted to be macrosomic, and a skin biopsy confirmed that this boy was a carrier of the same truncating mutation found in other family members. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
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[PubMed: 9787072]
[Full Text: https://doi.org/10.1006/geno.1998.5465]
</p>
</li>
<li>
<p class="mim-text-font">
Waterson, J., Stockley, T. L., Segal, S., Golabi, M.
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[Full Text: https://doi.org/10.1002/ajmg.a.33450]
</p>
</li>
<li>
<p class="mim-text-font">
Xuan, J. Y., Besner, A., Ireland, M., Hughes-Benzie, R. M., MacKenzie, A. E.
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</p>
</li>
<li>
<p class="mim-text-font">
Xuan, J. Y., Hughes-Benzie, R. M., MacKenzie, A. E.
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</p>
</li>
<li>
<p class="mim-text-font">
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<strong>Familial Simpson-Golabi-Behmel syndrome: studies of X-chromosome inactivation and clinical phenotypes in two female individuals with GPC3 mutations.</strong>
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[Full Text: https://doi.org/10.1111/j.1399-0004.2010.01554.x]
</p>
</li>
</ol>
<div>
<br />
</div>
</div>
</div>
<div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
<span class="text-nowrap mim-text-font">
Contributors:
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Sonja A. Rasmussen - updated : 09/15/2020<br>Marla J. F. O&#x27;Neill - updated : 02/21/2013<br>Cassandra L. Kniffin - updated : 1/4/2012<br>Cassandra L. Kniffin - updated : 12/21/2011<br>Cassandra L. Kniffin - updated : 10/27/2011<br>Cassandra L. Kniffin - updated : 6/20/2011<br>Cassandra L. Kniffin - updated : 2/16/2010<br>Cassandra L. Kniffin - updated : 9/3/2008<br>Cassandra L. Kniffin - updated : 2/25/2008<br>Cassandra L. Kniffin - updated : 1/8/2008<br>Marla J. F. O&#x27;Neill - updated : 7/5/2007<br>Victor A. McKusick - updated : 12/1/2006<br>Cassandra L. Kniffin - reorganized : 11/29/2006<br>Sonja A. Rasmussen - updated : 8/24/2001<br>Victor A. McKusick - updated : 12/6/1999<br>Victor A. McKusick - updated : 9/20/1999<br>Victor A. McKusick - updated : 4/22/1999<br>Michael J. Wright - updated : 2/12/1999<br>Patti M. Sherman - updated : 2/4/1999<br>Victor A. McKusick - updated : 10/28/1998<br>Victor A. McKusick - updated : 4/4/1997<br>Iosif W. Lurie - updated : 8/12/1996
</span>
</div>
</div>
</div>
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Victor A. McKusick : 6/4/1986
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carol : 11/13/2020<br>carol : 10/12/2020<br>carol : 09/15/2020<br>carol : 02/21/2013<br>carol : 1/11/2012<br>ckniffin : 1/4/2012<br>carol : 12/21/2011<br>ckniffin : 12/21/2011<br>carol : 10/28/2011<br>ckniffin : 10/27/2011<br>wwang : 6/30/2011<br>ckniffin : 6/20/2011<br>ckniffin : 6/20/2011<br>wwang : 2/18/2010<br>ckniffin : 2/16/2010<br>carol : 2/2/2009<br>wwang : 9/24/2008<br>wwang : 9/24/2008<br>ckniffin : 9/3/2008<br>wwang : 3/13/2008<br>ckniffin : 2/25/2008<br>wwang : 1/28/2008<br>ckniffin : 1/8/2008<br>ckniffin : 1/8/2008<br>ckniffin : 1/8/2008<br>wwang : 7/10/2007<br>terry : 7/5/2007<br>alopez : 12/12/2006<br>terry : 12/1/2006<br>carol : 11/29/2006<br>carol : 11/29/2006<br>ckniffin : 11/22/2006<br>wwang : 11/8/2006<br>terry : 3/3/2005<br>mcapotos : 8/30/2001<br>mcapotos : 8/24/2001<br>carol : 12/8/1999<br>terry : 12/6/1999<br>carol : 9/30/1999<br>terry : 9/20/1999<br>alopez : 5/3/1999<br>terry : 4/22/1999<br>mgross : 3/3/1999<br>mgross : 3/2/1999<br>terry : 2/12/1999<br>psherman : 2/4/1999<br>carol : 11/3/1998<br>terry : 10/28/1998<br>jenny : 11/12/1997<br>mark : 7/8/1997<br>jenny : 4/4/1997<br>terry : 3/31/1997<br>carol : 8/12/1996<br>mark : 2/29/1996<br>terry : 2/27/1996<br>mark : 12/20/1995<br>terry : 12/13/1995<br>terry : 8/3/1995<br>mark : 7/28/1995<br>warfield : 4/20/1994<br>pfoster : 3/24/1994<br>mimadm : 2/28/1994<br>carol : 7/22/1993
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