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- #235730 - MOWAT-WILSON SYNDROME; MOWS
- OMIM
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<span class="h4">#235730</span>
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/235730"><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="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#populationGenetics">Population Genetics</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<div><a href="https://clinicaltrials.gov/search?cond=MOWAT-WILSON SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">&#9658;</span>EuroGentest</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2051&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Mowat-Wilson syndrome&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=19888&Typ=Pat" title="Mowat-Wilson syndrome due to monosomy 2q22" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Mowat-Wilson syndrome due …&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=19889&Typ=Pat" title="Mowat-Wilson syndrome due to a ZEB2 point mutation" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Mowat-Wilson syndrome due …&nbsp;</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1412/" 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 style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2152" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Mowat-Wilson syndrome</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=261537" title="Mowat-Wilson syndrome due to monosomy 2q22" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Mowat-Wilson syndrome due …</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=261552" title="Mowat-Wilson syndrome due to a ZEB2 point mutation" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Mowat-Wilson syndrome due …</a></div>
</div>
<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/b7e160dd-f204-4c57-87f3-ec7656c98daf/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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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>
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</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:0060485" 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/235730" 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><a href="https://omia.org/OMIA001736/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
<div><a href="https://wormbase.org/resources/disease/DOID:0060485" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
</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>SNOMEDCT:</strong> 703535000<br />
<strong>ORPHA:</strong> 2152, 261537, 261552<br />
<strong>DO:</strong> 0060485<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>
235730
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
MOWAT-WILSON SYNDROME; MOWS
</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">
MICROCEPHALY, MENTAL RETARDATION, AND DISTINCT FACIAL FEATURES, WITH OR WITHOUT HIRSCHSPRUNG DISEASE<br />
HIRSCHSPRUNG DISEASE-MENTAL RETARDATION SYNDROME
</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/2/673?start=-3&limit=10&highlight=673">
2q22.3
</a>
</span>
</td>
<td>
<span class="mim-font">
Mowat-Wilson syndrome
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/235730"> 235730 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
ZEB2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605802"> 605802 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/235730" 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')">
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&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/235730" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/235730" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Height </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<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">
- Microcephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551563</a>, <a href="https://bioportal.bioontology.org/search?q=C0025958&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025958</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Microcephaly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca&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 /> -
Pointed chin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844505&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844505</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000307" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000307</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000307" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000307</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=7974ac288cfc8dbf20fe3f16a7844d32" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Chin,Pointed-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=7974ac288cfc8dbf20fe3f16a7844d32&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> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cupped ears <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845447&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845447</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000378" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000378</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000378" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000378</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=11e133b247a1693a43bc091f867a7615" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Ear,Cupped-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=11e133b247a1693a43bc091f867a7615&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 /> -
Fleshy upturned lobules <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856117&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856117</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009909" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009909</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009909" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009909</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">
- 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 /> -
Iris coloboma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/51485001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">51485001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q13.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q13.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240063&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240063</a>, <a href="https://bioportal.bioontology.org/search?q=C0266551&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266551</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000612" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000612</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000612" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000612</a>]</span><br /> -
Ptosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11934000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11934000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29696001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29696001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.409" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.409</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/374.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.3</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/374.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005745&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005745</a>, <a href="https://bioportal.bioontology.org/search?q=C0033377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033377</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Ptosis-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1&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 /> -
Deep-set eyes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246923005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246923005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423224&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423224</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000490" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000490</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000490" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000490</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=08eb099548b91270db09ad79e8e75da3" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Eye,Deeply_Set-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=08eb099548b91270db09ad79e8e75da3&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 /> -
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 /> -
Convergent strabismus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16596007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16596007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/378.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">378.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/378.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">378.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0014877&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014877</a>, <a href="https://bioportal.bioontology.org/search?q=C4551734&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551734</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0020045" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0020045</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000565" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000565</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0020045" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0020045</a>]</span><br /> -
Broad eyebrows <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856121&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856121</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011229" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011229</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011229" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011229</a>]</span><br /> -
Medially flared eyebrows <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844562&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844562</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010747" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010747</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010747" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010747</a>]</span><br /> -
Broad eyebrows <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856121&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856121</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011229" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011229</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011229" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011229</a>]</span><br /> -
Medially flared eyebrows <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844562&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844562</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010747" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010747</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010747" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010747</a>]</span><br /> -
Ptosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11934000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11934000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29696001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29696001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.409" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.409</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/374.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.3</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/374.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005745&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005745</a>, <a href="https://bioportal.bioontology.org/search?q=C0033377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033377</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Ptosis-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1&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 /> -
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 /> -
Deep-set eyes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246923005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246923005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423224&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423224</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000490" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000490</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000490" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000490</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=08eb099548b91270db09ad79e8e75da3" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Eye,Deeply_Set-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=08eb099548b91270db09ad79e8e75da3&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 /> -
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 /> -
Convergent strabismus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16596007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16596007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/378.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">378.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/378.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">378.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0014877&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014877</a>, <a href="https://bioportal.bioontology.org/search?q=C4551734&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551734</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0020045" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0020045</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000565" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000565</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0020045" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0020045</a>]</span><br /> -
Microphthalmia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204108000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204108000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61142002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61142002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q11.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q11.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.11</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026010&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026010</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span><br /> -
Microcornea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26098002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26098002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q13.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q13.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266544</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000482" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000482</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000482" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000482</a>]</span><br /> -
Irregular border of pupil <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232377</a>]</span><br /> -
Corectopia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/392461003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">392461003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193523008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193523008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H21.56" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H21.56</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q13.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q13.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0271135&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0271135</a>, <a href="https://bioportal.bioontology.org/search?q=C1271219&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1271219</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009918" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009918</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009918" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009918</a>]</span><br /> -
Cataract <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193570009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193570009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247053007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247053007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H26.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H26.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/366" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/366.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0086543&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086543</a>, <a href="https://bioportal.bioontology.org/search?q=C1690964&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1690964</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span><br /> -
Iris coloboma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/51485001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">51485001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q13.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q13.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240063&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240063</a>, <a href="https://bioportal.bioontology.org/search?q=C0266551&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266551</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000612" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000612</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000612" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000612</a>]</span><br /> -
Chorioretinal coloboma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204173008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204173008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39302008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39302008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q14.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q14.8</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.52</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3540764&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3540764</a>, <a href="https://bioportal.bioontology.org/search?q=C0240896&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240896</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000480" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000480</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000567" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000567</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000567" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000567</a>]</span><br /> -
Atrophy or absence of optic nerve <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232378&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232378</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">
- Wide nasal bridge <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249321001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249321001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849367&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849367</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> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=3f6587f50506c9d70db0628b3fa5f2c5" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Nasal_Bridge,Wide-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=3f6587f50506c9d70db0628b3fa5f2c5&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 /> -
Prominent nasal tip <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856118&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856118</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005274" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005274</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005274" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005274</a>]</span><br /> -
Columella extends below the ala nasi <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856119&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856119</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009765" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009765</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009765" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009765</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">
- Submucous cleft palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/763108005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">763108005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551487&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551487</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:5201016" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:5201016</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:5201016" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:5201016</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=b1095da353de35a140f68923e654feb4" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Palate,Submucous_Cleft-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=b1095da353de35a140f68923e654feb4&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 /> -
Drooling <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62718007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62718007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013132&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013132</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002307" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002307</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0003781" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003781</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002307" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002307</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">
- Widely spaced teeth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844813&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844813</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000687" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000687</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000687" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000687</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=5df0e44305e6ff6a9784b3b2408e902a" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Teeth,Widely_Spaced-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=5df0e44305e6ff6a9784b3b2408e902a&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 /> -
Malpositioned teeth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852504&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852504</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000692" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000692</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000692" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000692</a>]</span><br /> -
Delayed tooth eruption <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/5639000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">5639000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239174&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239174</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000684" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000684</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000684" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000684</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">
- 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 /> -
Atrial septal defect <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253366007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253366007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405752007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405752007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70142008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70142008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018817</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001631" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001631</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001631" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001631</a>]</span><br /> -
Pulmonic valve stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56786000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56786000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034089&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034089</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001642" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001642</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001642" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001642</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Vascular </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- 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 /> -
Pulmonary artery stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95441000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95441000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/449125001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">449125001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q25.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q25.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0238397&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0238397</a>, <a href="https://bioportal.bioontology.org/search?q=C0265911&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265911</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004415" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004415</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004415" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004415</a>]</span><br /> -
Pulmonary artery sling <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856123&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856123</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004961" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004961</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004961" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004961</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> External Features </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Pectus excavatum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/391987005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">391987005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/391982004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">391982004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016842&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016842</a>, <a href="https://bioportal.bioontology.org/search?q=C2051831&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2051831</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000767" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000767</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000767" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000767</a>]</span><br /> -
Pectus carinatum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205101001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205101001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38774000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38774000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.82</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2939416&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2939416</a>, <a href="https://bioportal.bioontology.org/search?q=C0158731&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158731</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000768" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000768</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000768" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000768</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">
- Accessory nipple <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>
<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">
- Abdominal distention <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60728008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60728008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0000731&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0000731</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003270</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003270</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">
- Constipation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14760008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14760008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K59.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K59.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K59.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K59.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/564.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">564.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/564.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">564.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009806&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009806</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002019" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002019</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002019" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002019</a>]</span><br /> -
Megacolon <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33995003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33995003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K59.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K59.3</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K59.39" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K59.39</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025160&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025160</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:6000852" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:6000852</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:6000852" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:6000852</a>]</span><br /> -
Vomiting <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422400008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422400008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/300359004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">300359004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249497008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249497008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R11.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R11.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R11.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R11.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042963&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042963</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002013</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002013</a>]</span><br /> -
Barium enema shows transition zone between aganglionic contracted segment and dilated proximal bowel <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856116&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856116</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 /> -
Bifid scrotum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/236780002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">236780002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0341787&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0341787</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000048" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000048</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000048" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000048</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>
<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> Hair </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Broad eyebrows <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856121&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856121</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011229" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011229</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011229" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011229</a>]</span><br /> -
Medially flared eyebrows <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844562&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844562</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010747" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010747</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010747" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010747</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Mental retardation, moderate to severe <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847353&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847353</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
Delayed motor development <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854301&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854301</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span><br /> -
Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
Severely impaired or absent speech <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856114&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856114</a>]</span><br /> -
Learning problems <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0233831&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0233831</a>, <a href="https://bioportal.bioontology.org/search?q=C0851265&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0851265</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 /> -
Hypoplasia of the corpus callosum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204043002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204043002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0344482&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344482</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002079" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002079</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002079" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002079</a>]</span><br /> -
Agenesis of the 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 /> -
Corpus callosum anomalies <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204042007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204042007</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=C0431366&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0431366</a>]</span><br /> -
Hippocampal abnormalities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4746824&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4746824</a>]</span><br /> -
Enlarged cerebral ventricles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278923&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278923</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002119</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002119</a>]</span><br /> -
White matter abnormalities (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0948163&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0948163</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002500" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002500</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002500" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002500</a>]</span><br /> -
Large basal ganglia (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859470&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859470</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007048" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007048</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007048" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007048</a>]</span><br /> -
Cortical malformations (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2748861&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2748861</a>]</span><br /> -
Cerebellar malformations (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4025708&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4025708</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002438" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002438</a>]</span><br />
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<em> Behavioral Psychiatric Manifestations </em>
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<span class="mim-font">
- Happy demeanor <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856115&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856115</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040082" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040082</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040082" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040082</a>]</span><br /> -
Repetitive behaviors <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/423884000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">423884000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1827547&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1827547</a>]</span><br /> -
Oral behaviors <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0178781&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0178781</a>]</span><br />
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<strong> LABORATORY ABNORMALITIES </strong>
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<span class="mim-font">
- Absent enteric ganglia beginning at rectum and extending proximally by varying degrees <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856120</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Prevalence of 1 in 50,000-70,000 live births<br /> -
Milder phenotype associated with aberrant function of a single domain of the ZEB2 protein rather than complete haploinsufficiency of ZEB2<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the zinc finger E box-binding homeobox 2 gene (ZEB2, <a href="/entry/605802#0001">605802.0001</a>)<br />
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<p>A number sign (#) is used with this entry because Mowat-Wilson syndrome (MOWS) is caused by heterozygous mutation in the ZEB2 gene (<a href="/entry/605802">605802</a>) on chromosome 2q22.</p>
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<a id="description" class="mim-anchor"></a>
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<strong>Description</strong>
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<p>Mowat-Wilson syndrome (MOWS) is an autosomal dominant complex developmental disorder; individuals with functional null mutations present with impaired intellectual development, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Mowat-Wilson syndrome has many clinical features in common with Goldberg-Shprintzen syndrome (<a href="/entry/609460">609460</a>) but the 2 disorders are genetically distinct (summary by <a href="#22" class="mim-tip-reference" title="Mowat, D. R., Wilson, M. J., Goossens, M. &lt;strong&gt;Mowat-Wilson syndrome.&lt;/strong&gt; J. Med. Genet. 40: 305-310, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12746390/&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;12746390&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.40.5.305&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="12746390">Mowat et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12746390" 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="clinicalFeatures" class="mim-anchor"></a>
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<strong>Clinical Features</strong>
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<p><a href="#21" class="mim-tip-reference" title="Mowat, D. R., Croaker, G. D. H., Cass, D. T., Kerr, B. A., Chaitow, J., Ades, L. C., Chia, N. L., Wilson, M. J. &lt;strong&gt;Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.&lt;/strong&gt; J. Med. Genet. 35: 617-623, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9719364/&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;9719364&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.35.8.617&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="9719364">Mowat et al. (1998)</a> described 6 unrelated children with a distinctive facial phenotype in association with mental retardation, microcephaly, and short stature. Four of the children presented with Hirschsprung disease in the neonatal period; a fifth child was diagnosed with Hirschsprung disease after years of constipation. One of the 4 patients had an interstitial deletion of chromosome 2 del(2)(q21q23). All the patients described by <a href="#21" class="mim-tip-reference" title="Mowat, D. R., Croaker, G. D. H., Cass, D. T., Kerr, B. A., Chaitow, J., Ades, L. C., Chia, N. L., Wilson, M. J. &lt;strong&gt;Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.&lt;/strong&gt; J. Med. Genet. 35: 617-623, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9719364/&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;9719364&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.35.8.617&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="9719364">Mowat et al. (1998)</a> were isolated cases, suggesting a contiguous gene syndrome or a dominant single gene disorder involving a locus for HSCR located at 2q22-q23. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9719364" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Among more than 200 cases of Hirschsprung disease, <a href="#27" class="mim-tip-reference" title="Wakamatsu, N., Yamada, Y., Yamada, K., Ono, T., Nomura, N., Taniguchi, H., Kitoh, H., Mutoh, N., Yamanaka, T., Mushiake, K., Kato, K., Sonta, S., Nagaya, M. &lt;strong&gt;Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease.&lt;/strong&gt; Nature Genet. 27: 369-370, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11279515/&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;11279515&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/86860&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="11279515">Wakamatsu et al. (2001)</a> found that 5 patients presented with Hirschsprung disease associated with microcephaly, mental retardation, epilepsy, and characteristic facial features. These 5 patients were all isolated cases, and 3 of them were complicated by congenital heart disease, including patent ductus arteriosus and/or ventricular septal defect. All patients had normal birth weights; microcephaly, hypertelorism, convergent strabismus, and broad nasal bridge were observed in all cases, with facial features similar to those previously reported by <a href="#21" class="mim-tip-reference" title="Mowat, D. R., Croaker, G. D. H., Cass, D. T., Kerr, B. A., Chaitow, J., Ades, L. C., Chia, N. L., Wilson, M. J. &lt;strong&gt;Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.&lt;/strong&gt; J. Med. Genet. 35: 617-623, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9719364/&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;9719364&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.35.8.617&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="9719364">Mowat et al. (1998)</a>. Deafness, pigmentation defects, iris coloboma, ptosis, and cleft palate were not observed. Patient 1 also had a t(2;13)(q22;q22) translocation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9719364+11279515" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#29" class="mim-tip-reference" title="Yamada, K., Yamada, Y., Nomura, N., Miura, K., Wakako, R., Hayakawa, C., Matsumoto, A., Kumagai, T., Yoshimura, I., Miyazaki, S., Kato, K., Sonta, S., Ono, H., Yamanaka, T., Nagaya, M., Wakamatsu, N. &lt;strong&gt;Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features.&lt;/strong&gt; Am. J. Hum. Genet. 69: 1178-1185, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11592033/&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;11592033&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=11592033[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/10.1086/324343&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="11592033">Yamada et al. (2001)</a> demonstrated that Hirschsprung disease was absent in 6 patients with mutations in the ZFHX1B gene who otherwise had features similar to previously reported mutation-positive patients (see, e.g., <a href="/entry/605802#0002">605802.0002</a>). All mutations were de novo and occurred in 1 allele. The wide spectrum of features suggested neurocristopathies at the cephalic, cardiac, and vagal levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11592033" 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="#30" class="mim-tip-reference" title="Yoneda, M., Fujita, T., Yamada, Y., Yamada, K., Fujii, A., Inagaki, T., Nakagawa, H., Shimada, A., Kishikawa, M., Nagaya, M., Azuma, T., Kuriyama, M., Wakamatsu, N. &lt;strong&gt;Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B.&lt;/strong&gt; Neurology 59: 1637-1640, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12451214/&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;12451214&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000034842.78350.4e&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="12451214">Yoneda et al. (2002)</a> reported a 48-year-old woman, born of nonconsanguineous parents, who had late infantile-onset mental retardation and developed megacolon in adulthood. Although the patient had no typical clinical features of Hirschsprung disease-mental retardation syndrome, a deletion identified in exon 3 of the ZFHX1B gene (<a href="/entry/605802#0011">605802.0011</a>). She was noted to have mental retardation in childhood but received a full education in elementary school. She sometimes had constipation but did not require medication until age 48 years, when she presented with severe constipation and was found to have megacolon. This patient thus appeared to represent an intermediate stage between the full-blown Hirschsprung disease-mental retardation syndrome and Hirschsprung disease-mental retardation syndrome without Hirschsprung disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12451214" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Amiel, J., Espinosa-Parrilla, Y., Steffann, J., Gosset, P., Pelet, A., Prieur, M., Boute, O., Choiset, A., Lacombe, D., Philip, N., Le Merrer, M., Tanaka, H., Till, M., Touraine, R., Toutain, A., Vekemans, M., Munnich, A., Lyonnet, S. &lt;strong&gt;Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.&lt;/strong&gt; Am. J. Hum. Genet. 69: 1370-1377, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11595972/&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;11595972&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=11595972[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/10.1086/324342&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="11595972">Amiel et al. (2001)</a> found large-scale ZFHX1B deletions or truncating mutations in 8 of 19 patients with Hirschsprung disease and mental retardation. They found frequent features such as hypospadias and agenesis of the corpus callosum. One of the patients with a deletion mutation had previously been reported by <a href="#26" class="mim-tip-reference" title="Tanaka, H., Ito, J., Cho, K., Mikawa, M. &lt;strong&gt;Hirschsprung disease, unusual face, mental retardation, epilepsy, and congenital heart disease: Goldberg-Shprintzen syndrome.&lt;/strong&gt; Pediat. Neurol. 9: 479-481, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7605558/&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;7605558&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0887-8994(93)90029-c&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="7605558">Tanaka et al. (1993)</a> to have Goldberg-Shprintzen syndrome. <a href="#2" class="mim-tip-reference" title="Amiel, J., Espinosa-Parrilla, Y., Steffann, J., Gosset, P., Pelet, A., Prieur, M., Boute, O., Choiset, A., Lacombe, D., Philip, N., Le Merrer, M., Tanaka, H., Till, M., Touraine, R., Toutain, A., Vekemans, M., Munnich, A., Lyonnet, S. &lt;strong&gt;Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.&lt;/strong&gt; Am. J. Hum. Genet. 69: 1370-1377, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11595972/&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;11595972&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=11595972[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/10.1086/324342&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="11595972">Amiel et al. (2001)</a> stated that 2 other patients reported to have Goldberg-Shprintzen syndrome (<a href="#18" class="mim-tip-reference" title="Hurst, J. A., Markiewicz, M., Kumar, D., Brett, E. M. &lt;strong&gt;Unknown syndrome: Hirschsprung&#x27;s disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration.&lt;/strong&gt; J. Med. Genet. 25: 494-497, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3172144/&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;3172144&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.25.7.494&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="3172144">Hurst et al., 1988</a>, patient 3; <a href="#23" class="mim-tip-reference" title="Ohnuma, K., Imaizumi, K., Masuno, M., Nakamura, M., Kuroki, Y. &lt;strong&gt;Magnetic resonance imaging abnormalities of the brain in Goldberg-Shprintzen syndrome (Hirschsprung disease, microcephaly, and iris coloboma). (Letter)&lt;/strong&gt; Am. J. Med. Genet. 73: 230-232, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9409878/&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;9409878&lt;/a&gt;]" pmid="9409878">Ohnuma et al., 1997</a>) most likely had Mowat-Wilson syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11595972+3172144+9409878+7605558" 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="#23" class="mim-tip-reference" title="Ohnuma, K., Imaizumi, K., Masuno, M., Nakamura, M., Kuroki, Y. &lt;strong&gt;Magnetic resonance imaging abnormalities of the brain in Goldberg-Shprintzen syndrome (Hirschsprung disease, microcephaly, and iris coloboma). (Letter)&lt;/strong&gt; Am. J. Med. Genet. 73: 230-232, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9409878/&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;9409878&lt;/a&gt;]" pmid="9409878">Ohnuma et al. (1997)</a> described a Japanese boy who was noted during the neonatal period to have hypotonia and poor sucking. Emergency colostomy was performed at the age of 6 days because of severe constipation, abdominal distention, and congenital megacolon. Histologic findings of a rectal biopsy showed aganglionosis of the submucosal plexus and confirmed short segment Hirschsprung disease. The patient was referred at the age of 15 months because of epilepsy. He had sparse scalp hair, a sloping forehead, sparse eyebrows, telecanthus, broad nasal bridge, large ears, and pointed chin, ventricular septal defect, hypospadias with bifid scrotum, cutaneous syndactyly between the second and third fingers, and rocker-bottom feet. A brain CT revealed prominent sulci and dilatation of ventricles, indicating brain atrophy or hypoplasia. Brain MRI showed loss of parenchymal volume, especially of the white matter, thin and hypoplastic corpus callosum with absent rostrum, genu, and configuration. The anterior commissure was absent. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9409878" 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="#31" class="mim-tip-reference" title="Zweier, C., Albrecht, B., Mitulla, B., Behrens, R., Beese, M., Gillessen-Kaesbach, G., Rott, H.-D., Rauch, A. &lt;strong&gt;&#x27;Mowat-Wilson&#x27; syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene.&lt;/strong&gt; Am. J. Med. Genet. 108: 177-181, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11891681/&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;11891681&lt;/a&gt;]" pmid="11891681">Zweier et al. (2002)</a> analyzed the ZFHX1B gene in 5 patients, 3 of whom had Hirschsprung disease syndrome, 2 with and 1 without the facial phenotype described by <a href="#21" class="mim-tip-reference" title="Mowat, D. R., Croaker, G. D. H., Cass, D. T., Kerr, B. A., Chaitow, J., Ades, L. C., Chia, N. L., Wilson, M. J. &lt;strong&gt;Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.&lt;/strong&gt; J. Med. Genet. 35: 617-623, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9719364/&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;9719364&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.35.8.617&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="9719364">Mowat et al. (1998)</a>, and 2 of whom had the distinct facial gestalt without Hirschsprung disease. <a href="#31" class="mim-tip-reference" title="Zweier, C., Albrecht, B., Mitulla, B., Behrens, R., Beese, M., Gillessen-Kaesbach, G., Rott, H.-D., Rauch, A. &lt;strong&gt;&#x27;Mowat-Wilson&#x27; syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene.&lt;/strong&gt; Am. J. Med. Genet. 108: 177-181, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11891681/&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;11891681&lt;/a&gt;]" pmid="11891681">Zweier et al. (2002)</a> excluded large deletions in all 5 patients and found truncating ZFHX1B mutations (<a href="/entry/605802#0007">605802.0007</a>-<a href="/entry/605802#0010">605802.0010</a>) in all 4 patients with the characteristic facial phenotype but not in the patient with syndromic Hirschsprung disease without the distinct facial appearance. <a href="#31" class="mim-tip-reference" title="Zweier, C., Albrecht, B., Mitulla, B., Behrens, R., Beese, M., Gillessen-Kaesbach, G., Rott, H.-D., Rauch, A. &lt;strong&gt;&#x27;Mowat-Wilson&#x27; syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene.&lt;/strong&gt; Am. J. Med. Genet. 108: 177-181, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11891681/&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;11891681&lt;/a&gt;]" pmid="11891681">Zweier et al. (2002)</a> suggested calling the clinical entity of this distinct facial appearance, mental retardation, and variable MCAs the 'Mowat-Wilson syndrome.' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9719364+11891681" 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="Wilson, M., Mowat, D., Dastot-Le Moal, F., Cacheux, V., Kaariainen, H., Cass, D., Donnai, D., Clayton-Smith, J., Townshend, S., Curry, C., Gattas, M., Braddock, S., Kerr, B., Aftimos, S., Zehnwirth, H., Barrey, C., Goossens, M. &lt;strong&gt;Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.&lt;/strong&gt; Am. J. Med. Genet. 119A: 257-265, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12784289/&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;12784289&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.20053&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="12784289">Wilson et al. (2003)</a> presented clinical data and mutation analyses from a series of 23 patients with Hirschsprung disease-mental retardation syndrome, of whom 21 had proven ZFHX1B mutations or deletions and 15 were previously unpublished. Two patients with the typical features (1 with and 1 without HSCR) did not have detectable abnormalities of ZFHX1B. <a href="#28" class="mim-tip-reference" title="Wilson, M., Mowat, D., Dastot-Le Moal, F., Cacheux, V., Kaariainen, H., Cass, D., Donnai, D., Clayton-Smith, J., Townshend, S., Curry, C., Gattas, M., Braddock, S., Kerr, B., Aftimos, S., Zehnwirth, H., Barrey, C., Goossens, M. &lt;strong&gt;Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.&lt;/strong&gt; Am. J. Med. Genet. 119A: 257-265, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12784289/&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;12784289&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.20053&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="12784289">Wilson et al. (2003)</a> emphasized that this syndrome can be recognized by the facial phenotype in the absence of either HSCR or other congenital anomalies, and that it needs to be considered in the differential diagnosis of dysmorphism with severe mental retardation and presence or absence of epilepsy. They provided numerous photographs illustrating the facial dysmorphism changes with age. Young children tend to have an open-mouthed smiling expression with an uplifted face. The eyebrows are horizontal and wedge-shaped (medially broad) and widely separated. In later childhood, the nasal tip lengthens and depresses, overhanging the philtrum. The upper half of the nasal profile becomes convex, tending to produce an aquiline profile. The chin lengthens and prognathism develops. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12784289" 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="Zweier, C., Temple, I. K., Beemer, F., Zackai, E., Lerman-Sagie, T., Weschke, B., Anderson, C. E., Rauch, A. &lt;strong&gt;Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome.&lt;/strong&gt; J. Med. Genet. 40: 601-605, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12920073/&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;12920073&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.40.8.601&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="12920073">Zweier et al. (2003)</a> stated that in addition to severe mental retardation, recognizable facial gestalt, pre- or postnatal microcephaly, and postnatal growth retardation, features of Mowat-Wilson syndrome include seizures (82%) and malformations such as HSCR (67.6%), congenital heart defects (47%), and agenesis of the corpus callosum (35%). Because HSCR occurs in only approximately two-thirds of patients with Mowat-Wilson syndrome, and patients with and without HSCR can be recognized by other features, especially their distinct facial gestalt, <a href="#33" class="mim-tip-reference" title="Zweier, C., Temple, I. K., Beemer, F., Zackai, E., Lerman-Sagie, T., Weschke, B., Anderson, C. E., Rauch, A. &lt;strong&gt;Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome.&lt;/strong&gt; J. Med. Genet. 40: 601-605, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12920073/&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;12920073&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.40.8.601&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="12920073">Zweier et al. (2003)</a> supported Mowat-Wilson syndrome as a more appropriate designation. Deletion sizes and breakpoints in these patients vary widely from 300 kb to at least 11 Mb, thus ruling out a true microdeletion syndrome. Parental origin had been determined in 4 patients, and was paternal in all. Patients with deletions were very similar to those with truncating mutations. There was no correlation between the phenotype and size of deletion up to 5 Mb; however, 1 patient with a larger deletion of approximately 11 Mb had early seizures with a lethal course and hypoplasia of the big toes as additional features. <a href="#33" class="mim-tip-reference" title="Zweier, C., Temple, I. K., Beemer, F., Zackai, E., Lerman-Sagie, T., Weschke, B., Anderson, C. E., Rauch, A. &lt;strong&gt;Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome.&lt;/strong&gt; J. Med. Genet. 40: 601-605, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12920073/&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;12920073&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.40.8.601&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="12920073">Zweier et al. (2003)</a> described 4 patients with Mowat-Wilson syndrome; in 2 the diagnosis was made because of HSCR and associated features, and in the other 2 because of mental retardation associated with the distinct facial gestalt in the absence of HSCR. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12920073" 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="#1" class="mim-tip-reference" title="Adam, M. P., Schelley, S., Gallagher, R., Brady, A. N., Barr, K., Blumberg, B., Shieh, J. T. C., Graham, J., Slavotinek, A., Martin, M., Keppler-Noreuil, K., Storm, A. L., Hudgins, L. &lt;strong&gt;Clinical features and management issues in Mowat-Wilson syndrome.&lt;/strong&gt; Am. J. Med. Genet. 140A: 2730-2741, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17103451/&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;17103451&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.31530&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="17103451">Adam et al. (2006)</a> presented detailed clinical features of 12 patients with Mowat-Wilson syndrome. All had a characteristic facial feature of a prominent nasal tip with the columella extending below the ala nasi. Other common facial features included cupped ears with fleshy, upturned lobules, deep-set eyes, hypertelorism, medially flared and broad eyebrows, and pointed chin. <a href="#1" class="mim-tip-reference" title="Adam, M. P., Schelley, S., Gallagher, R., Brady, A. N., Barr, K., Blumberg, B., Shieh, J. T. C., Graham, J., Slavotinek, A., Martin, M., Keppler-Noreuil, K., Storm, A. L., Hudgins, L. &lt;strong&gt;Clinical features and management issues in Mowat-Wilson syndrome.&lt;/strong&gt; Am. J. Med. Genet. 140A: 2730-2741, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17103451/&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;17103451&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.31530&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="17103451">Adam et al. (2006)</a> also noted that patients had malpositioning of the teeth and delayed tooth eruption, recurrent otitis media, postnatal growth deficiency in both height and weight, accessory nipples, long, tapering fingers, severely impaired or absent speech, happy demeanor, and pulmonary artery and valve anomalies. Only 6 of the 12 patients had Hirschsprung disease, suggesting that it is not required for the diagnosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17103451" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#25" class="mim-tip-reference" title="Strenge, S., Heinritz, W., Zweier, C., Rauch, A., Rolle, U., Merkenschlager, A., Froster, U. G. &lt;strong&gt;Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat-Wilson syndrome. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 143A: 1528-1530, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17567886/&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;17567886&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.31801&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="17567886">Strenge et al. (2007)</a> reported a girl with Mowat-Wilson syndrome, confirmed by genetic analysis, who had multiple congenital cardiovascular anomalies, including patent ductus arteriosus, ventricular septal defect, coarctation of the aorta, and a pulmonary artery sling. She also had subglottic stenosis and distal tracheal stenosis. Although she had constipation, she did not have Hirschsprung disease, which the authors noted was not required for diagnosis. Other major clinical features included microcephaly, mental retardation, speech impairment, epilepsy, and characteristic facial phenotype with hypertelorism, downslanting palpebral fissures, broad eyebrows, lateral sparseness, prominent nasal tip, pointed chin, ears with upturned lobules, and a high-arched palate. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17567886" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Cecconi, M., Forzano, F., Garavelli, L., Pantaleoni, C., Grasso, M., Bricarelli, F. D., Perroni, L., Di Maria, E., Faravelli, F. &lt;strong&gt;Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 146A: 3095-3099, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19006215/&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;19006215&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32568&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="19006215">Cecconi et al. (2008)</a> reported 2 sisters with Mowat-Wilson syndrome confirmed by genetic analysis. Both showed agenesis of the corpus callosum on prenatal screening at about 20 weeks' gestation. One girl had normal cardiac features, whereas the other had a complex heart malformation with aortic coarctation and valvular stenosis, pulmonary valve stenosis, and multiple septal defects. As neither parent was affected, the authors postulated germline somatic mosaicism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19006215" 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="Garavelli, L., Zollino, M., Cerruti Mainardi, P., Gurrieri, F., Rivieri, F., Soli, F., Verri, R., Albertini, E., Favaron, E., Zignani, M., Orteschi, D., Bianchi, P., and 24 others. &lt;strong&gt;Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.&lt;/strong&gt; Am. J. Med. Genet. 149A: 417-426, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19215041/&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;19215041&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32693&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="19215041">Garavelli et al. (2009)</a> studied 19 Italian patients with Mowat-Wilson syndrome, including 6 previously reported patients (<a href="#12" class="mim-tip-reference" title="Garavelli, L., Donadio, A., Zanacca, C., Banchini, G., Della Giustina, E., Bertani, G., Albertini, G., Del Rossi, C., Zweier, C., Rauch, A., Zollino, M., Neri, G. &lt;strong&gt;Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 116A: 385-388, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12522797/&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;12522797&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.10855&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="12522797">Garavelli et al., 2003</a>; <a href="#6" class="mim-tip-reference" title="Cerruti Mainardi, P., Pastore, G., Zweier, C., Rauch, A. &lt;strong&gt;Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity.&lt;/strong&gt; J. Med. Genet. 41: e16, 2004. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14757866/&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;14757866&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2003.009548&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="14757866">Cerruti Mainardi et al., 2004</a>; <a href="#24" class="mim-tip-reference" title="Silengo, M., Ferrero, G. B., Wakamatsu, N. &lt;strong&gt;Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 127A: 109 only, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15103730/&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;15103730&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.20607&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="15103730">Silengo et al., 2004</a>; <a href="#34" class="mim-tip-reference" title="Zweier, C., Thiel, C. T., Dufke, A., Crow, Y. J., Meinecke, P., Suri, M., Ala-Mello, S., Beemer, F., Bernasconi, S., Bianchi, P., Bier, A., Devriendt, K., and 30 others. &lt;strong&gt;Clinical and mutational spectrum of Mowat-Wilson syndrome.&lt;/strong&gt; Europ. J. Med. Genet. 48: 97-111, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16053902/&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;16053902&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ejmg.2005.01.003&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="16053902">Zweier et al., 2005</a>), all of whom had the typical facial gestalt. <a href="#14" class="mim-tip-reference" title="Garavelli, L., Zollino, M., Cerruti Mainardi, P., Gurrieri, F., Rivieri, F., Soli, F., Verri, R., Albertini, E., Favaron, E., Zignani, M., Orteschi, D., Bianchi, P., and 24 others. &lt;strong&gt;Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.&lt;/strong&gt; Am. J. Med. Genet. 149A: 417-426, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19215041/&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;19215041&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32693&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="19215041">Garavelli et al. (2009)</a> provided photographs demonstrating changes in the characteristic facies with age. In older children, the face appeared more elongated, with a prominent jaw; the eyebrows tended to become heavier, broad, and horizontal, usually subdivided by a middle longitudinal line and an element of sparseness. The nasal tip lengthened and became more depressed, and the columella was prominent, giving rise to the appearance of a short philtrum, and the nasal profile became more convex. In adolescents and adults, the nasal tip overhung the philtrum, the face tended to lengthen with prognathism, and a long, pointed or 'chisel-shaped' chin might be observed. The uplifted ear lobes did not change much over time, except for the central depression becoming less remarkable. <a href="#14" class="mim-tip-reference" title="Garavelli, L., Zollino, M., Cerruti Mainardi, P., Gurrieri, F., Rivieri, F., Soli, F., Verri, R., Albertini, E., Favaron, E., Zignani, M., Orteschi, D., Bianchi, P., and 24 others. &lt;strong&gt;Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.&lt;/strong&gt; Am. J. Med. Genet. 149A: 417-426, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19215041/&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;19215041&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32693&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="19215041">Garavelli et al. (2009)</a> also reviewed the published clinical findings in MOWS patients with ZEB2 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14757866+12522797+15103730+16053902+19215041" 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="Cordelli, D. M., Garavelli, L., Savasta, S., Guerra, A., Pellicciari, A., Giordano, L., Bonetti, S., Cecconi, I., Wischmeijer, A., Seri, M., Rosato, S., Gelmini, C., and 28 others. &lt;strong&gt;Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype.&lt;/strong&gt; Am. J. Med. Genet. 161A: 273-284, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23322667/&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;23322667&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.35717&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="23322667">Cordelli et al. (2013)</a> performed a retrospective study of the seizure phenotype of 22 Italian patients with genetically confirmed MOWS. The patients ranged in age from 2 to 22 years. The mean age at seizure onset was 14.5 months (range, 1-108 months), and all patients presented initially with a focal seizure, often associated with fever, manifest variably as hypomotor, versive, or focal clonic. This type was followed by a high prevalence of atypical absence seizures later in childhood. Focal seizures were more frequent during drowsiness or sleep. At onset of seizures, EEG was normal or showed only mild slowing of background activity. However, most patients later showed spike and wave discharges, predominantly frontal, that were sometimes continuous during sleep. The seizures were difficult to control with medication; only 9 patients achieved remission with multiple medications. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23322667" 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="#3" class="mim-tip-reference" title="Bourchany, A., Giurgea, I., Thevenon, J., Goldenberg, A., Morin, G., Bremond-Gignac, D., Paillot, C., Lafontaine, P. O., Thouvenin, D., Massy, J., Duncombe, A., Thauvin-Robinet, C., Masurel-Paulet, A., El Chehadeh, S., Huet, F., Bron, A., Creuzot-Garcher, C., Lyonnet, S., Faivre, L. &lt;strong&gt;Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome.&lt;/strong&gt; Am. J. Med. Genet. 167A: 1587-1592, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25899569/&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;25899569&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.36898&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="25899569">Bourchany et al. (2015)</a> reported 4 unrelated patients with Mowat-Wilson syndrome and mutations in the ZEB2 gene who all exhibited eye malformations. Ocular anomalies included microphthalmia, microcornea, irregular border of pupil, corectopia, focal iris atrophy, goniodysgenesis, iris and retinal coloboma, atrophy or absence of the optic nerve, hyphema, and deep refraction troubles, sometimes associated with severely reduced vision. All eye malformations were asymmetric and often unilateral, and all eye segments were involved. Noting that eye abnormalities were rarely reported in MOWS, the authors studied the location of ZEB2 mutations in 12 MOWS patients with ocular malformations, but did not discern any genotype/phenotype correlations. They also noted that the sibs described by <a href="#20" class="mim-tip-reference" title="McGaughran, J., Sinnott, S., Dastot-Le Moal, F., Wilson, M., Mowat, D., Sutton, B., Goossens, M. &lt;strong&gt;Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation.&lt;/strong&gt; Am. J. Med. Genet. 137A: 302-304, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16088920/&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;16088920&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30896&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="16088920">McGaughran et al. (2005)</a> exhibited intrafamilial variability, with 1 sib having an aplastic optic nerve with central chorioretinal coloboma of the left eye, and the other sib having no eye malformations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16088920+25899569" 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>Neuropsychologic Features</em></strong></p><p>
<a href="#11" class="mim-tip-reference" title="Evans, E., Einfeld, S., Mowat, D., Taffe, J., Tonge, B., Wilson, M. &lt;strong&gt;The behavioral phenotype of Mowat-Wilson syndrome.&lt;/strong&gt; Am. J. Med. Genet. 158A: 358-366, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22246645/&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;22246645&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.34405&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="22246645">Evans et al. (2012)</a> evaluated behavior of 61 MOWS patients using a checklist filled out by parents or caregivers. The data were compared to those from 122 individuals with intellectual disability (ID) from other causes. Patients with MOWS tended to have significantly increased oral behaviors such as chewing or eating non-food items and teeth grinding, increased rate of repetitive behaviors, underreactivity to pain, and happy or elated mood compared to those with other ID causes. Patients with MOWS were significantly less likely to appear depressed, cry easily, not show affection, or remain alone compared to those with other ID causes. The overall MOWS behavioral phenotype was suggestive of a happy affect and sociable demeanor. However, those with MOWS displayed similarly high levels of behavioral problems as those with ID from other causes, with over 30% showing clinically significant levels of behavioral or emotional disturbances such as disruptive behavior, communication disturbances, and anxiety. It was not possible to ascertain IQ levels. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22246645" 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>Neuroimaging</em></strong></p><p>
<a href="#13" class="mim-tip-reference" title="Garavelli, L., Ivanovski, I., Caraffi, S. G., Santodirocco, D., Pollazzon, M., Cordelli, D. M., Abdalla, E., Accorsi, P., Adam, M. P., Baldo, C., Bayat, A., Belligni, E., and 46 others. &lt;strong&gt;Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.&lt;/strong&gt; Genet. Med. 19: 691-700, 2017.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/27831545/&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;27831545&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=27831545[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/10.1038/gim.2016.176&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="27831545">Garavelli et al. (2017)</a> reviewed brain MRIs of 54 Mowat-Wilson patients with a proven ZEB2 defect, compared them with features identified in a thorough review of published cases, and evaluated genotype-phenotype correlations. Ninety-six percent of patients had abnormal MRI results. The most common features were anomalies of the corpus callosum (79.6% of cases), hippocampal abnormalities (77.8%), enlargement of cerebral ventricles (68.5%), and white matter abnormalities (reduction of thickness 40.7%, localized signal alterations 22.2%). Other consistent findings were large basal ganglia and cortical and cerebellar malformations. Most features were underrepresented in the literature. The literature review included 56 cases in whom MRI had been performed and evaluated in detail. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27831545" 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="inheritance" class="mim-anchor"></a>
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<strong>Inheritance</strong>
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<p>Most patients with Mowat-Wilson syndrome have de novo heterozygous mutations in the ZEB2 gene (summary by <a href="#15" class="mim-tip-reference" title="Ghoumid, J., Drevillon, L., Alavi-Naini, S. M., Bondurand, N., Rio, M., Briand-Suleau, A., Nasser, M., Goodwin, L., Raymond, P., Yanicostas, C., Goossens, M., Lyonnet, S., Mowat, D., Amiel, J., Soussi-Yanicostas, N., Giurgea, I. &lt;strong&gt;ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.&lt;/strong&gt; Hum. Molec. Genet. 22: 2652-2661, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23466526/&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;23466526&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddt114&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="23466526">Ghoumid et al., 2013</a>). However, rare affected sibs have been reported, suggesting germline somatic mosaicism in one of the parents (<a href="#20" class="mim-tip-reference" title="McGaughran, J., Sinnott, S., Dastot-Le Moal, F., Wilson, M., Mowat, D., Sutton, B., Goossens, M. &lt;strong&gt;Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation.&lt;/strong&gt; Am. J. Med. Genet. 137A: 302-304, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16088920/&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;16088920&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30896&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="16088920">McGaughran et al., 2005</a>; <a href="#5" class="mim-tip-reference" title="Cecconi, M., Forzano, F., Garavelli, L., Pantaleoni, C., Grasso, M., Bricarelli, F. D., Perroni, L., Di Maria, E., Faravelli, F. &lt;strong&gt;Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 146A: 3095-3099, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19006215/&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;19006215&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32568&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="19006215">Cecconi et al., 2008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19006215+16088920+23466526" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Cecconi, M., Forzano, F., Garavelli, L., Pantaleoni, C., Grasso, M., Bricarelli, F. D., Perroni, L., Di Maria, E., Faravelli, F. &lt;strong&gt;Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 146A: 3095-3099, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19006215/&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;19006215&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32568&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="19006215">Cecconi et al. (2008)</a> reported 2 sisters with Mowat-Wilson syndrome confirmed by genetic analysis. As neither parent was affected, the authors postulated germline somatic mosaicism. Including previous reports, <a href="#5" class="mim-tip-reference" title="Cecconi, M., Forzano, F., Garavelli, L., Pantaleoni, C., Grasso, M., Bricarelli, F. D., Perroni, L., Di Maria, E., Faravelli, F. &lt;strong&gt;Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 146A: 3095-3099, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19006215/&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;19006215&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32568&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="19006215">Cecconi et al. (2008)</a> estimated that the recurrence rate of Mowat-Wilson syndrome could be as high as 2.3% (4 of 175; range, 0.6-5.7%). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19006215" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The prevalence of Mowat-Wilson syndrome is estimated to be 1 per 50,000-70,000 live births (summary by <a href="#15" class="mim-tip-reference" title="Ghoumid, J., Drevillon, L., Alavi-Naini, S. M., Bondurand, N., Rio, M., Briand-Suleau, A., Nasser, M., Goodwin, L., Raymond, P., Yanicostas, C., Goossens, M., Lyonnet, S., Mowat, D., Amiel, J., Soussi-Yanicostas, N., Giurgea, I. &lt;strong&gt;ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.&lt;/strong&gt; Hum. Molec. Genet. 22: 2652-2661, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23466526/&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;23466526&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddt114&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="23466526">Ghoumid et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23466526" 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>Cytogenetics</strong>
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<p><a href="#10" class="mim-tip-reference" title="Engenheiro, E., Moller, R. S., Pinto, M., Soares, G., Nikanorova, M., Carreira, I. M., Ullmann, R., Tommerup, N., Tumer, Z. &lt;strong&gt;Mowat-Wilson syndrome: an underdiagnosed syndrome?&lt;/strong&gt; Clin. Genet. 73: 579-584, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18445050/&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;18445050&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2008.00997.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="18445050">Engenheiro et al. (2008)</a> reported 2 unrelated patients with Mowat-Wilson syndrome associated with cytogenetic abnormalities resulting in disruption of the ZEB2 gene. One patient had an interstitial 0.6-Mb deletion at chromosome 2q22 including the entire ZEB2 gene that was detected by array comparative genomic hybridization (CGH) at age 13 years after conventional cytogenetic analysis reported a normal karyotype. The other patient had a complex balanced chromosomal rearrangement, t(2;12;18)(q22.3;12q22;q21.33), detected by cytogenetics early in childhood. The 2q22 breakpoint was later found to be in intron 2 of the ZEB2 gene when the patient was about 19 years old. The other breakpoints in this patient were not known to disrupt any genes. <a href="#10" class="mim-tip-reference" title="Engenheiro, E., Moller, R. S., Pinto, M., Soares, G., Nikanorova, M., Carreira, I. M., Ullmann, R., Tommerup, N., Tumer, Z. &lt;strong&gt;Mowat-Wilson syndrome: an underdiagnosed syndrome?&lt;/strong&gt; Clin. Genet. 73: 579-584, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18445050/&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;18445050&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2008.00997.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="18445050">Engenheiro et al. (2008)</a> noted that both patients were only properly diagnosed with Mowat-Wilson syndrome after initial cytogenetic findings were investigated further, suggesting that the syndrome may be underdiagnosed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18445050" 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="molecularGenetics" class="mim-anchor"></a>
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<strong>Molecular Genetics</strong>
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<p>In 4 of 5 patients with Hirschsprung disease associated with microcephaly, mental retardation, epilepsy, and characteristic facial features of Mowat-Wilson syndrome, <a href="#27" class="mim-tip-reference" title="Wakamatsu, N., Yamada, Y., Yamada, K., Ono, T., Nomura, N., Taniguchi, H., Kitoh, H., Mutoh, N., Yamanaka, T., Mushiake, K., Kato, K., Sonta, S., Nagaya, M. &lt;strong&gt;Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease.&lt;/strong&gt; Nature Genet. 27: 369-370, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11279515/&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;11279515&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/86860&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="11279515">Wakamatsu et al. (2001)</a> identified pathogenic changes in the ZEB2 gene, including 1 deletion and 3 mutations (see, e.g., <a href="/entry/605802#0001">605802.0001</a>-<a href="/entry/606802#0003">606802.0003</a>). No mutation was identified in ZEB2 in the fifth patient. All of the mutations occurred de novo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11279515" 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 3 patients originally described by <a href="#21" class="mim-tip-reference" title="Mowat, D. R., Croaker, G. D. H., Cass, D. T., Kerr, B. A., Chaitow, J., Ades, L. C., Chia, N. L., Wilson, M. J. &lt;strong&gt;Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.&lt;/strong&gt; J. Med. Genet. 35: 617-623, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9719364/&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;9719364&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.35.8.617&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="9719364">Mowat et al. (1998)</a>, <a href="#4" class="mim-tip-reference" title="Cacheux, V., Dastot-Le Moal, F., Kaariainen, H., Bondurand, N., Rintala, R., Boissier, B., Wilson, M, Mowat, D., Goossens, M. &lt;strong&gt;Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease.&lt;/strong&gt; Hum. Molec. Genet. 10: 1503-1510, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11448942/&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;11448942&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/10.14.1503&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="11448942">Cacheux et al. (2001)</a> identified mutations in the ZEB2 gene (see, e.g., <a href="/entry/605802#0004">605802.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11448942+9719364" 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="Horn, D., Weschke, B., Zweier, C., Rauch, A. &lt;strong&gt;Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 124A: 102-104, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14679597/&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;14679597&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.20298&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="14679597">Horn et al. (2004)</a> reported 2 unrelated patients with Mowat-Wilson syndrome diagnosed on the basis of the characteristic facial features; neither patient had HSCR. Both were found to have deletions in the ZFHX1B gene, confirming the diagnosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14679597" 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="Ishihara, N., Yamada, K., Yamada, Y., Miura, K., Kato, J., Kuwabara, N., Hara, Y., Kobayashi, Y., Hoshino, K., Nomura, Y., Mimaki, M., Ohya, K., and 16 others. &lt;strong&gt;Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1. (Letter)&lt;/strong&gt; J. Med. Genet. 41: 387-393, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15121779/&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;15121779&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2003.016154&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="15121779">Ishihara et al. (2004)</a> identified 5 novel nonsense and frameshift mutations in the ZFHX1B gene in patients with Mowat-Wilson syndrome and characterized the clinical features and molecular basis of a total of 27 cases with mutations or deletions in ZFHX1B. Two novel features, pulmonary artery sling and vaginal septum, were observed in 2 patients, 1 with a frameshift and 1 with a nonsense mutation, respectively. Repeated vomiting attacks were seen in 5 patients; the authors suggested that the attacks were possibly related to epilepsy, as they were controlled by anticonvulsants in 1 patient. Two of their patients with large deletions (10.42 Mb and 8.83 Mb) had significantly delayed psychomotor development, and 1 of them also had a cleft palate and complicated heart disease, features not previously reported in patients with Mowat-Wilson syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15121779" 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="McGaughran, J., Sinnott, S., Dastot-Le Moal, F., Wilson, M., Mowat, D., Sutton, B., Goossens, M. &lt;strong&gt;Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation.&lt;/strong&gt; Am. J. Med. Genet. 137A: 302-304, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16088920/&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;16088920&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30896&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="16088920">McGaughran et al. (2005)</a> described a sister and brother with phenotypic Mowat-Wilson syndrome in whom they identified a 1-bp deletion in the ZFHX1B gene (<a href="/entry/605802#0013">605802.0013</a>). The mutation was not found in the unaffected parents' lymphocyte-derived DNA, suggesting germline mosaicism in the sibs. <a href="#20" class="mim-tip-reference" title="McGaughran, J., Sinnott, S., Dastot-Le Moal, F., Wilson, M., Mowat, D., Sutton, B., Goossens, M. &lt;strong&gt;Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation.&lt;/strong&gt; Am. J. Med. Genet. 137A: 302-304, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16088920/&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;16088920&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30896&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="16088920">McGaughran et al. (2005)</a> stated that this was the first report of a sib recurrence of Mowat-Wilson syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16088920" 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="Zweier, C., Horn, D., Kraus, C., Rauch, A. &lt;strong&gt;Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype.&lt;/strong&gt; Am. J. Med. Genet. 140A: 869-872, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16532472/&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;16532472&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.31196&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="16532472">Zweier et al. (2006)</a> reported a 5-year-old boy with facial features of Mowat-Wilson syndrome but who exhibited an unusually mild phenotype and in whom they identified heterozygosity for a splice site mutation in the ZFHX1B gene (<a href="/entry/605802#0014">605802.0014</a>). The patient had medially flared broad eyebrows, hypertelorism, pointed nose and chin, and prominent, mildly uplifted earlobes, but the overall facial gestalt was less striking than that of most MOWS patients. His psychomotor development was much better than expected for classic MOWS; by age 4 he spoke in full sentences and had sphincter control. Except for increased disposition to seizures on EEG and body measurements at the 3rd centile, he had no other anomalies frequently observed in MOWS such as agenesis or hypoplasia of the corpus callosum, congenital heart defects, urogenital anomalies, Hirschsprung disease, or constipation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16532472" 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="#16" class="mim-tip-reference" title="Heinritz, W., Zweier, C., Froster, U. G., Strenge, S., Kujat, A., Syrbe, S., Rauch, A., Schuster, V. &lt;strong&gt;A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.&lt;/strong&gt; Am. J. Med. Genet. 140A: 1223-1227, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16688751/&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;16688751&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.31267&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="16688751">Heinritz et al. (2006)</a> described a 2.5-year-old boy with a de novo heterozygous missense mutation in the ZFHX1B gene (<a href="/entry/605802#0015">605802.0015</a>) who had the overall facial phenotype of Mowat-Wilson syndrome, but with cleft lip and palate and lacking the characteristic eyebrows. The patient also had brachytelephalangy, which the authors stated had never been described before in Mowat-Wilson syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16688751" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Dastot-Le Moal, F., Wilson, M., Mowat, D., Collot, N., Niel, F., Goossens, M. &lt;strong&gt;ZFHX1B mutations in patients with Mowat-Wilson syndrome.&lt;/strong&gt; Hum. Mutat. 28: 313-321, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17203459/&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;17203459&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.20452&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="17203459">Dastot-Le Moal et al. (2007)</a> stated that more than 110 different mutations in the ZEB2 gene had been described. Nonsense mutations accounted for approximately 41% of the known punctual mutations and have been localized mainly in exon 8. No obvious genotype-phenotype correlations have been observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17203459" 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="de Pontual, L., Pelet, A., Trochet, D., Jaubert, F., Espinosa-Parrilla, Y., Munnich, A., Brunet, J.-F., Goridis, C., Feingold, J., Lyonnet, S., Amiel, J. &lt;strong&gt;Mutations of the RET gene in isolated and syndromic Hirschsprung&#x27;s disease in human disclose major and modifier alleles at a single locus.&lt;/strong&gt; J. Med. Genet. 43: 419-423, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16443855/&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;16443855&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=16443855[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/10.1136/jmg.2005.040113&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="16443855">De Pontual et al. (2006)</a> genotyped the RET (<a href="/entry/164761">164761</a>) locus in 30 patients with Mowat-Wilson syndrome who were known to have mutations in the ZFHX1B gene; no significant differences in SNP distribution of the nonsyndromic HSCR-predisposing RET haplotype (ATA) were observed between MOWS patients with and without HSCR. <a href="#9" class="mim-tip-reference" title="de Pontual, L., Pelet, A., Trochet, D., Jaubert, F., Espinosa-Parrilla, Y., Munnich, A., Brunet, J.-F., Goridis, C., Feingold, J., Lyonnet, S., Amiel, J. &lt;strong&gt;Mutations of the RET gene in isolated and syndromic Hirschsprung&#x27;s disease in human disclose major and modifier alleles at a single locus.&lt;/strong&gt; J. Med. Genet. 43: 419-423, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16443855/&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;16443855&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=16443855[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/10.1136/jmg.2005.040113&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="16443855">De Pontual et al. (2006)</a> concluded that there are both RET-dependent and RET-independent HSCR cases and suggested that at least 1 more modifier gene must be involved. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16443855" 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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<h4 href="#mimGenotypePhenotypeCorrelationsFold" id="mimGenotypePhenotypeCorrelationsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Genotype/Phenotype Correlations</strong>
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<p>The majority of ZEB2 mutations identified in patients with Mowat-Wilson syndrome lead to haploinsufficiency through premature termination or large gene deletions. In 3 unrelated patients with a mild form of MOWS, <a href="#15" class="mim-tip-reference" title="Ghoumid, J., Drevillon, L., Alavi-Naini, S. M., Bondurand, N., Rio, M., Briand-Suleau, A., Nasser, M., Goodwin, L., Raymond, P., Yanicostas, C., Goossens, M., Lyonnet, S., Mowat, D., Amiel, J., Soussi-Yanicostas, N., Giurgea, I. &lt;strong&gt;ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.&lt;/strong&gt; Hum. Molec. Genet. 22: 2652-2661, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23466526/&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;23466526&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddt114&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="23466526">Ghoumid et al. (2013)</a> identified 3 different heterozygous missense mutations in the ZEB2 gene (see, e.g., S1071P, <a href="/entry/605802#0016">605802.0016</a> and H1045R, <a href="/entry/605802#0017">605802.0017</a>). All 3 mutations occurred in the conserved C-terminal zinc finger cluster domain. In vitro functional expression studies showed that these 3 mutant proteins lost the ability to bind to the E-cadherin (CDH1; <a href="/entry/192090">192090</a>) promoter and to repress transcription of this target gene, consistent with a loss of function and without a dominant-negative effect. However, these mutant mRNAs showed significant phenotypic rescue of morpholino knockout zebrafish embryos: complete rescue with S1071P (84%) and partial rescue with H1045R (55%), indicating that they are hypomorphic alleles; wildtype mRNA showed 81% rescue. The patients had mild facial gestalt of MOWS and moderate intellectual disability, but no microcephaly, heart defects, or HSCR. The variable embryonic rescue correlated with the severity of the patients' phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23466526" 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="references"class="mim-anchor"></a>
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
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<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<a id="Adam2006" class="mim-anchor"></a>
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<p class="mim-text-font">
Adam, M. P., Schelley, S., Gallagher, R., Brady, A. N., Barr, K., Blumberg, B., Shieh, J. T. C., Graham, J., Slavotinek, A., Martin, M., Keppler-Noreuil, K., Storm, A. L., Hudgins, L.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17103451/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17103451</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17103451" 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.31530" target="_blank">Full Text</a>]
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<a id="Amiel2001" class="mim-anchor"></a>
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<p class="mim-text-font">
Amiel, J., Espinosa-Parrilla, Y., Steffann, J., Gosset, P., Pelet, A., Prieur, M., Boute, O., Choiset, A., Lacombe, D., Philip, N., Le Merrer, M., Tanaka, H., Till, M., Touraine, R., Toutain, A., Vekemans, M., Munnich, A., Lyonnet, S.
<strong>Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11595972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11595972</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11595972[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=11595972" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/324342" target="_blank">Full Text</a>]
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<a id="Bourchany2015" class="mim-anchor"></a>
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Bourchany, A., Giurgea, I., Thevenon, J., Goldenberg, A., Morin, G., Bremond-Gignac, D., Paillot, C., Lafontaine, P. O., Thouvenin, D., Massy, J., Duncombe, A., Thauvin-Robinet, C., Masurel-Paulet, A., El Chehadeh, S., Huet, F., Bron, A., Creuzot-Garcher, C., Lyonnet, S., Faivre, L.
<strong>Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome.</strong>
Am. J. Med. Genet. 167A: 1587-1592, 2015.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25899569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25899569</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25899569" 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.36898" target="_blank">Full Text</a>]
</p>
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<a id="4" class="mim-anchor"></a>
<a id="Cacheux2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Cacheux, V., Dastot-Le Moal, F., Kaariainen, H., Bondurand, N., Rintala, R., Boissier, B., Wilson, M, Mowat, D., Goossens, M.
<strong>Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease.</strong>
Hum. Molec. Genet. 10: 1503-1510, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11448942/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11448942</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11448942" 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/10.14.1503" target="_blank">Full Text</a>]
</p>
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<a id="5" class="mim-anchor"></a>
<a id="Cecconi2008" class="mim-anchor"></a>
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<p class="mim-text-font">
Cecconi, M., Forzano, F., Garavelli, L., Pantaleoni, C., Grasso, M., Bricarelli, F. D., Perroni, L., Di Maria, E., Faravelli, F.
<strong>Recurrence of Mowat-Wilson syndrome in siblings with a novel mutation in the ZEB2 gene. (Letter)</strong>
Am. J. Med. Genet. 146A: 3095-3099, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19006215/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19006215</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19006215" 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.32568" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
<a id="Cerruti Mainardi2004" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Cerruti Mainardi, P., Pastore, G., Zweier, C., Rauch, A.
<strong>Mowat-Wilson syndrome and mutation in the zinc finger homeo box 1B gene: a well defined clinical entity.</strong>
J. Med. Genet. 41: e16, 2004. Note: Electronic Article.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14757866/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14757866</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14757866" 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.2003.009548" target="_blank">Full Text</a>]
</p>
</div>
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<a id="7" class="mim-anchor"></a>
<a id="Cordelli2013" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Cordelli, D. M., Garavelli, L., Savasta, S., Guerra, A., Pellicciari, A., Giordano, L., Bonetti, S., Cecconi, I., Wischmeijer, A., Seri, M., Rosato, S., Gelmini, C., and 28 others.
<strong>Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype.</strong>
Am. J. Med. Genet. 161A: 273-284, 2013.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23322667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23322667</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23322667" 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.35717" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="8" class="mim-anchor"></a>
<a id="Dastot-Le Moal2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Dastot-Le Moal, F., Wilson, M., Mowat, D., Collot, N., Niel, F., Goossens, M.
<strong>ZFHX1B mutations in patients with Mowat-Wilson syndrome.</strong>
Hum. Mutat. 28: 313-321, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17203459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17203459</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17203459" 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/humu.20452" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="9" class="mim-anchor"></a>
<a id="de Pontual2006" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
de Pontual, L., Pelet, A., Trochet, D., Jaubert, F., Espinosa-Parrilla, Y., Munnich, A., Brunet, J.-F., Goridis, C., Feingold, J., Lyonnet, S., Amiel, J.
<strong>Mutations of the RET gene in isolated and syndromic Hirschsprung's disease in human disclose major and modifier alleles at a single locus.</strong>
J. Med. Genet. 43: 419-423, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16443855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16443855</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16443855[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=16443855" 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.2005.040113" target="_blank">Full Text</a>]
</p>
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<a id="10" class="mim-anchor"></a>
<a id="Engenheiro2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Engenheiro, E., Moller, R. S., Pinto, M., Soares, G., Nikanorova, M., Carreira, I. M., Ullmann, R., Tommerup, N., Tumer, Z.
<strong>Mowat-Wilson syndrome: an underdiagnosed syndrome?</strong>
Clin. Genet. 73: 579-584, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18445050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18445050</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18445050" 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.1399-0004.2008.00997.x" target="_blank">Full Text</a>]
</p>
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<a id="11" class="mim-anchor"></a>
<a id="Evans2012" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Evans, E., Einfeld, S., Mowat, D., Taffe, J., Tonge, B., Wilson, M.
<strong>The behavioral phenotype of Mowat-Wilson syndrome.</strong>
Am. J. Med. Genet. 158A: 358-366, 2012.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22246645/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22246645</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22246645" 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.34405" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="12" class="mim-anchor"></a>
<a id="Garavelli2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Garavelli, L., Donadio, A., Zanacca, C., Banchini, G., Della Giustina, E., Bertani, G., Albertini, G., Del Rossi, C., Zweier, C., Rauch, A., Zollino, M., Neri, G.
<strong>Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome. (Letter)</strong>
Am. J. Med. Genet. 116A: 385-388, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12522797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12522797</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12522797" 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.10855" target="_blank">Full Text</a>]
</p>
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<a id="13" class="mim-anchor"></a>
<a id="Garavelli2017" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Garavelli, L., Ivanovski, I., Caraffi, S. G., Santodirocco, D., Pollazzon, M., Cordelli, D. M., Abdalla, E., Accorsi, P., Adam, M. P., Baldo, C., Bayat, A., Belligni, E., and 46 others.
<strong>Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.</strong>
Genet. Med. 19: 691-700, 2017.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27831545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27831545</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27831545[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=27831545" 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/gim.2016.176" target="_blank">Full Text</a>]
</p>
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<a id="14" class="mim-anchor"></a>
<a id="Garavelli2009" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Garavelli, L., Zollino, M., Cerruti Mainardi, P., Gurrieri, F., Rivieri, F., Soli, F., Verri, R., Albertini, E., Favaron, E., Zignani, M., Orteschi, D., Bianchi, P., and 24 others.
<strong>Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.</strong>
Am. J. Med. Genet. 149A: 417-426, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19215041/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19215041</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19215041" 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.32693" target="_blank">Full Text</a>]
</p>
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<a id="Ghoumid2013" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ghoumid, J., Drevillon, L., Alavi-Naini, S. M., Bondurand, N., Rio, M., Briand-Suleau, A., Nasser, M., Goodwin, L., Raymond, P., Yanicostas, C., Goossens, M., Lyonnet, S., Mowat, D., Amiel, J., Soussi-Yanicostas, N., Giurgea, I.
<strong>ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.</strong>
Hum. Molec. Genet. 22: 2652-2661, 2013.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23466526/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23466526</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23466526" 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/ddt114" target="_blank">Full Text</a>]
</p>
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<li>
<a id="16" class="mim-anchor"></a>
<a id="Heinritz2006" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Heinritz, W., Zweier, C., Froster, U. G., Strenge, S., Kujat, A., Syrbe, S., Rauch, A., Schuster, V.
<strong>A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.</strong>
Am. J. Med. Genet. 140A: 1223-1227, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16688751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16688751</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16688751" 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.31267" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="17" class="mim-anchor"></a>
<a id="Horn2004" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Horn, D., Weschke, B., Zweier, C., Rauch, A.
<strong>Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease. (Letter)</strong>
Am. J. Med. Genet. 124A: 102-104, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14679597/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14679597</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14679597" 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.20298" target="_blank">Full Text</a>]
</p>
</div>
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<a id="18" class="mim-anchor"></a>
<a id="Hurst1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hurst, J. A., Markiewicz, M., Kumar, D., Brett, E. M.
<strong>Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration.</strong>
J. Med. Genet. 25: 494-497, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3172144/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3172144</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3172144" 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.25.7.494" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="19" class="mim-anchor"></a>
<a id="Ishihara2004" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ishihara, N., Yamada, K., Yamada, Y., Miura, K., Kato, J., Kuwabara, N., Hara, Y., Kobayashi, Y., Hoshino, K., Nomura, Y., Mimaki, M., Ohya, K., and 16 others.
<strong>Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1. (Letter)</strong>
J. Med. Genet. 41: 387-393, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15121779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15121779</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15121779" 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.2003.016154" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="20" class="mim-anchor"></a>
<a id="McGaughran2005" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
McGaughran, J., Sinnott, S., Dastot-Le Moal, F., Wilson, M., Mowat, D., Sutton, B., Goossens, M.
<strong>Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation.</strong>
Am. J. Med. Genet. 137A: 302-304, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16088920/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16088920</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16088920" 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.30896" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="21" class="mim-anchor"></a>
<a id="Mowat1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Mowat, D. R., Croaker, G. D. H., Cass, D. T., Kerr, B. A., Chaitow, J., Ades, L. C., Chia, N. L., Wilson, M. J.
<strong>Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.</strong>
J. Med. Genet. 35: 617-623, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9719364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9719364</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9719364" 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.35.8.617" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="22" class="mim-anchor"></a>
<a id="Mowat2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Mowat, D. R., Wilson, M. J., Goossens, M.
<strong>Mowat-Wilson syndrome.</strong>
J. Med. Genet. 40: 305-310, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12746390/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12746390</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12746390" 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.40.5.305" target="_blank">Full Text</a>]
</p>
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<li>
<a id="23" class="mim-anchor"></a>
<a id="Ohnuma1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ohnuma, K., Imaizumi, K., Masuno, M., Nakamura, M., Kuroki, Y.
<strong>Magnetic resonance imaging abnormalities of the brain in Goldberg-Shprintzen syndrome (Hirschsprung disease, microcephaly, and iris coloboma). (Letter)</strong>
Am. J. Med. Genet. 73: 230-232, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9409878/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9409878</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9409878" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="24" class="mim-anchor"></a>
<a id="Silengo2004" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Silengo, M., Ferrero, G. B., Wakamatsu, N.
<strong>Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene. (Letter)</strong>
Am. J. Med. Genet. 127A: 109 only, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15103730/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15103730</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15103730" 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.20607" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="25" class="mim-anchor"></a>
<a id="Strenge2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Strenge, S., Heinritz, W., Zweier, C., Rauch, A., Rolle, U., Merkenschlager, A., Froster, U. G.
<strong>Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat-Wilson syndrome. (Letter)</strong>
Am. J. Med. Genet. 143A: 1528-1530, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17567886/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17567886</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17567886" 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.31801" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="26" class="mim-anchor"></a>
<a id="Tanaka1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Tanaka, H., Ito, J., Cho, K., Mikawa, M.
<strong>Hirschsprung disease, unusual face, mental retardation, epilepsy, and congenital heart disease: Goldberg-Shprintzen syndrome.</strong>
Pediat. Neurol. 9: 479-481, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7605558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7605558</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7605558" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0887-8994(93)90029-c" target="_blank">Full Text</a>]
</p>
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<a id="27" class="mim-anchor"></a>
<a id="Wakamatsu2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wakamatsu, N., Yamada, Y., Yamada, K., Ono, T., Nomura, N., Taniguchi, H., Kitoh, H., Mutoh, N., Yamanaka, T., Mushiake, K., Kato, K., Sonta, S., Nagaya, M.
<strong>Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease.</strong>
Nature Genet. 27: 369-370, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11279515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11279515</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11279515" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/86860" target="_blank">Full Text</a>]
</p>
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<a id="28" class="mim-anchor"></a>
<a id="Wilson2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wilson, M., Mowat, D., Dastot-Le Moal, F., Cacheux, V., Kaariainen, H., Cass, D., Donnai, D., Clayton-Smith, J., Townshend, S., Curry, C., Gattas, M., Braddock, S., Kerr, B., Aftimos, S., Zehnwirth, H., Barrey, C., Goossens, M.
<strong>Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.</strong>
Am. J. Med. Genet. 119A: 257-265, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12784289/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12784289</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12784289" 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.20053" target="_blank">Full Text</a>]
</p>
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<a id="29" class="mim-anchor"></a>
<a id="Yamada2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Yamada, K., Yamada, Y., Nomura, N., Miura, K., Wakako, R., Hayakawa, C., Matsumoto, A., Kumagai, T., Yoshimura, I., Miyazaki, S., Kato, K., Sonta, S., Ono, H., Yamanaka, T., Nagaya, M., Wakamatsu, N.
<strong>Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features.</strong>
Am. J. Hum. Genet. 69: 1178-1185, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11592033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11592033</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11592033[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=11592033" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/324343" target="_blank">Full Text</a>]
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<a id="30" class="mim-anchor"></a>
<a id="Yoneda2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Yoneda, M., Fujita, T., Yamada, Y., Yamada, K., Fujii, A., Inagaki, T., Nakagawa, H., Shimada, A., Kishikawa, M., Nagaya, M., Azuma, T., Kuriyama, M., Wakamatsu, N.
<strong>Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B.</strong>
Neurology 59: 1637-1640, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12451214/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12451214</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12451214" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/01.wnl.0000034842.78350.4e" target="_blank">Full Text</a>]
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<a id="31" class="mim-anchor"></a>
<a id="Zweier2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Zweier, C., Albrecht, B., Mitulla, B., Behrens, R., Beese, M., Gillessen-Kaesbach, G., Rott, H.-D., Rauch, A.
<strong>'Mowat-Wilson' syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene.</strong>
Am. J. Med. Genet. 108: 177-181, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11891681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11891681</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11891681" 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="32" class="mim-anchor"></a>
<a id="Zweier2006" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Zweier, C., Horn, D., Kraus, C., Rauch, A.
<strong>Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype.</strong>
Am. J. Med. Genet. 140A: 869-872, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16532472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16532472</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16532472" 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.31196" target="_blank">Full Text</a>]
</p>
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<a id="33" class="mim-anchor"></a>
<a id="Zweier2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Zweier, C., Temple, I. K., Beemer, F., Zackai, E., Lerman-Sagie, T., Weschke, B., Anderson, C. E., Rauch, A.
<strong>Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome.</strong>
J. Med. Genet. 40: 601-605, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12920073/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12920073</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12920073" 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.40.8.601" target="_blank">Full Text</a>]
</p>
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<a id="34" class="mim-anchor"></a>
<a id="Zweier2005" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Zweier, C., Thiel, C. T., Dufke, A., Crow, Y. J., Meinecke, P., Suri, M., Ala-Mello, S., Beemer, F., Bernasconi, S., Bianchi, P., Bier, A., Devriendt, K., and 30 others.
<strong>Clinical and mutational spectrum of Mowat-Wilson syndrome.</strong>
Europ. J. Med. Genet. 48: 97-111, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16053902/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16053902</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16053902" 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.2005.01.003" target="_blank">Full Text</a>]
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<a id="contributors" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<span class="mim-text-font">
Marla J. F. O'Neill - updated : 08/02/2019
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<div class="row collapse" id="mimCollapseContributors">
<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Ada Hamosh - updated : 09/25/2018<br>Cassandra L. Kniffin - updated : 10/19/2015<br>Cassandra L. Kniffin - updated : 7/24/2013<br>Cassandra L. Kniffin - updated : 4/5/2012<br>Marla J. F. O'Neill - updated : 8/27/2010<br>Cassandra L. Kniffin - updated : 4/6/2009<br>Cassandra L. Kniffin - updated : 12/30/2008<br>Cassandra L. Kniffin - updated : 9/8/2008<br>Cassandra L. Kniffin - updated : 5/29/2007<br>Cassandra L. Kniffin - updated : 1/2/2007<br>Marla J. F. O'Neill - updated : 10/11/2006<br>Marla J. F. O'Neill - updated : 8/11/2006<br>Marla J. F. O'Neill - updated : 6/20/2006<br>Cassandra L. Kniffin - updated : 3/14/2006<br>Marla J. F. O'Neill - updated : 10/3/2005<br>Victor A. McKusick - updated : 6/28/2005<br>Marla J. F. O'Neill - updated : 6/11/2004<br>Victor A. McKusick - updated : 11/6/2003<br>Victor A. McKusick - updated : 10/1/2003<br>Victor A. McKusick - updated : 6/26/2003<br>Deborah L. Stone - updated : 4/25/2002<br>Victor A. McKusick - updated : 12/20/2001<br>George E. Tiller - updated : 12/14/2001<br>Ada Hamosh - updated : 4/26/2001<br>Ada Hamosh - updated : 3/29/2001<br>Victor A. McKusick - updated : 1/8/1998
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Creation Date:
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Victor A. McKusick : 8/15/1988
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<strong>#</strong> 235730
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MOWAT-WILSON SYNDROME; MOWS
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<em>Alternative titles; symbols</em>
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MICROCEPHALY, MENTAL RETARDATION, AND DISTINCT FACIAL FEATURES, WITH OR WITHOUT HIRSCHSPRUNG DISEASE<br />
HIRSCHSPRUNG DISEASE-MENTAL RETARDATION SYNDROME
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<strong>SNOMEDCT:</strong> 703535000; &nbsp;
<strong>ORPHA:</strong> 2152, 261537, 261552; &nbsp;
<strong>DO:</strong> 0060485; &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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2q22.3
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Mowat-Wilson syndrome
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235730
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Autosomal dominant
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3
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ZEB2
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605802
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because Mowat-Wilson syndrome (MOWS) is caused by heterozygous mutation in the ZEB2 gene (605802) on chromosome 2q22.</p>
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<strong>Description</strong>
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<p>Mowat-Wilson syndrome (MOWS) is an autosomal dominant complex developmental disorder; individuals with functional null mutations present with impaired intellectual development, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Mowat-Wilson syndrome has many clinical features in common with Goldberg-Shprintzen syndrome (609460) but the 2 disorders are genetically distinct (summary by Mowat et al., 2003). </p>
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<strong>Clinical Features</strong>
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<p>Mowat et al. (1998) described 6 unrelated children with a distinctive facial phenotype in association with mental retardation, microcephaly, and short stature. Four of the children presented with Hirschsprung disease in the neonatal period; a fifth child was diagnosed with Hirschsprung disease after years of constipation. One of the 4 patients had an interstitial deletion of chromosome 2 del(2)(q21q23). All the patients described by Mowat et al. (1998) were isolated cases, suggesting a contiguous gene syndrome or a dominant single gene disorder involving a locus for HSCR located at 2q22-q23. </p><p>Among more than 200 cases of Hirschsprung disease, Wakamatsu et al. (2001) found that 5 patients presented with Hirschsprung disease associated with microcephaly, mental retardation, epilepsy, and characteristic facial features. These 5 patients were all isolated cases, and 3 of them were complicated by congenital heart disease, including patent ductus arteriosus and/or ventricular septal defect. All patients had normal birth weights; microcephaly, hypertelorism, convergent strabismus, and broad nasal bridge were observed in all cases, with facial features similar to those previously reported by Mowat et al. (1998). Deafness, pigmentation defects, iris coloboma, ptosis, and cleft palate were not observed. Patient 1 also had a t(2;13)(q22;q22) translocation. </p><p>Yamada et al. (2001) demonstrated that Hirschsprung disease was absent in 6 patients with mutations in the ZFHX1B gene who otherwise had features similar to previously reported mutation-positive patients (see, e.g., 605802.0002). All mutations were de novo and occurred in 1 allele. The wide spectrum of features suggested neurocristopathies at the cephalic, cardiac, and vagal levels. </p><p>Yoneda et al. (2002) reported a 48-year-old woman, born of nonconsanguineous parents, who had late infantile-onset mental retardation and developed megacolon in adulthood. Although the patient had no typical clinical features of Hirschsprung disease-mental retardation syndrome, a deletion identified in exon 3 of the ZFHX1B gene (605802.0011). She was noted to have mental retardation in childhood but received a full education in elementary school. She sometimes had constipation but did not require medication until age 48 years, when she presented with severe constipation and was found to have megacolon. This patient thus appeared to represent an intermediate stage between the full-blown Hirschsprung disease-mental retardation syndrome and Hirschsprung disease-mental retardation syndrome without Hirschsprung disease. </p><p>Amiel et al. (2001) found large-scale ZFHX1B deletions or truncating mutations in 8 of 19 patients with Hirschsprung disease and mental retardation. They found frequent features such as hypospadias and agenesis of the corpus callosum. One of the patients with a deletion mutation had previously been reported by Tanaka et al. (1993) to have Goldberg-Shprintzen syndrome. Amiel et al. (2001) stated that 2 other patients reported to have Goldberg-Shprintzen syndrome (Hurst et al., 1988, patient 3; Ohnuma et al., 1997) most likely had Mowat-Wilson syndrome. </p><p>Ohnuma et al. (1997) described a Japanese boy who was noted during the neonatal period to have hypotonia and poor sucking. Emergency colostomy was performed at the age of 6 days because of severe constipation, abdominal distention, and congenital megacolon. Histologic findings of a rectal biopsy showed aganglionosis of the submucosal plexus and confirmed short segment Hirschsprung disease. The patient was referred at the age of 15 months because of epilepsy. He had sparse scalp hair, a sloping forehead, sparse eyebrows, telecanthus, broad nasal bridge, large ears, and pointed chin, ventricular septal defect, hypospadias with bifid scrotum, cutaneous syndactyly between the second and third fingers, and rocker-bottom feet. A brain CT revealed prominent sulci and dilatation of ventricles, indicating brain atrophy or hypoplasia. Brain MRI showed loss of parenchymal volume, especially of the white matter, thin and hypoplastic corpus callosum with absent rostrum, genu, and configuration. The anterior commissure was absent. </p><p>Zweier et al. (2002) analyzed the ZFHX1B gene in 5 patients, 3 of whom had Hirschsprung disease syndrome, 2 with and 1 without the facial phenotype described by Mowat et al. (1998), and 2 of whom had the distinct facial gestalt without Hirschsprung disease. Zweier et al. (2002) excluded large deletions in all 5 patients and found truncating ZFHX1B mutations (605802.0007-605802.0010) in all 4 patients with the characteristic facial phenotype but not in the patient with syndromic Hirschsprung disease without the distinct facial appearance. Zweier et al. (2002) suggested calling the clinical entity of this distinct facial appearance, mental retardation, and variable MCAs the 'Mowat-Wilson syndrome.' </p><p>Wilson et al. (2003) presented clinical data and mutation analyses from a series of 23 patients with Hirschsprung disease-mental retardation syndrome, of whom 21 had proven ZFHX1B mutations or deletions and 15 were previously unpublished. Two patients with the typical features (1 with and 1 without HSCR) did not have detectable abnormalities of ZFHX1B. Wilson et al. (2003) emphasized that this syndrome can be recognized by the facial phenotype in the absence of either HSCR or other congenital anomalies, and that it needs to be considered in the differential diagnosis of dysmorphism with severe mental retardation and presence or absence of epilepsy. They provided numerous photographs illustrating the facial dysmorphism changes with age. Young children tend to have an open-mouthed smiling expression with an uplifted face. The eyebrows are horizontal and wedge-shaped (medially broad) and widely separated. In later childhood, the nasal tip lengthens and depresses, overhanging the philtrum. The upper half of the nasal profile becomes convex, tending to produce an aquiline profile. The chin lengthens and prognathism develops. </p><p>Zweier et al. (2003) stated that in addition to severe mental retardation, recognizable facial gestalt, pre- or postnatal microcephaly, and postnatal growth retardation, features of Mowat-Wilson syndrome include seizures (82%) and malformations such as HSCR (67.6%), congenital heart defects (47%), and agenesis of the corpus callosum (35%). Because HSCR occurs in only approximately two-thirds of patients with Mowat-Wilson syndrome, and patients with and without HSCR can be recognized by other features, especially their distinct facial gestalt, Zweier et al. (2003) supported Mowat-Wilson syndrome as a more appropriate designation. Deletion sizes and breakpoints in these patients vary widely from 300 kb to at least 11 Mb, thus ruling out a true microdeletion syndrome. Parental origin had been determined in 4 patients, and was paternal in all. Patients with deletions were very similar to those with truncating mutations. There was no correlation between the phenotype and size of deletion up to 5 Mb; however, 1 patient with a larger deletion of approximately 11 Mb had early seizures with a lethal course and hypoplasia of the big toes as additional features. Zweier et al. (2003) described 4 patients with Mowat-Wilson syndrome; in 2 the diagnosis was made because of HSCR and associated features, and in the other 2 because of mental retardation associated with the distinct facial gestalt in the absence of HSCR. </p><p>Adam et al. (2006) presented detailed clinical features of 12 patients with Mowat-Wilson syndrome. All had a characteristic facial feature of a prominent nasal tip with the columella extending below the ala nasi. Other common facial features included cupped ears with fleshy, upturned lobules, deep-set eyes, hypertelorism, medially flared and broad eyebrows, and pointed chin. Adam et al. (2006) also noted that patients had malpositioning of the teeth and delayed tooth eruption, recurrent otitis media, postnatal growth deficiency in both height and weight, accessory nipples, long, tapering fingers, severely impaired or absent speech, happy demeanor, and pulmonary artery and valve anomalies. Only 6 of the 12 patients had Hirschsprung disease, suggesting that it is not required for the diagnosis. </p><p>Strenge et al. (2007) reported a girl with Mowat-Wilson syndrome, confirmed by genetic analysis, who had multiple congenital cardiovascular anomalies, including patent ductus arteriosus, ventricular septal defect, coarctation of the aorta, and a pulmonary artery sling. She also had subglottic stenosis and distal tracheal stenosis. Although she had constipation, she did not have Hirschsprung disease, which the authors noted was not required for diagnosis. Other major clinical features included microcephaly, mental retardation, speech impairment, epilepsy, and characteristic facial phenotype with hypertelorism, downslanting palpebral fissures, broad eyebrows, lateral sparseness, prominent nasal tip, pointed chin, ears with upturned lobules, and a high-arched palate. </p><p>Cecconi et al. (2008) reported 2 sisters with Mowat-Wilson syndrome confirmed by genetic analysis. Both showed agenesis of the corpus callosum on prenatal screening at about 20 weeks' gestation. One girl had normal cardiac features, whereas the other had a complex heart malformation with aortic coarctation and valvular stenosis, pulmonary valve stenosis, and multiple septal defects. As neither parent was affected, the authors postulated germline somatic mosaicism. </p><p>Garavelli et al. (2009) studied 19 Italian patients with Mowat-Wilson syndrome, including 6 previously reported patients (Garavelli et al., 2003; Cerruti Mainardi et al., 2004; Silengo et al., 2004; Zweier et al., 2005), all of whom had the typical facial gestalt. Garavelli et al. (2009) provided photographs demonstrating changes in the characteristic facies with age. In older children, the face appeared more elongated, with a prominent jaw; the eyebrows tended to become heavier, broad, and horizontal, usually subdivided by a middle longitudinal line and an element of sparseness. The nasal tip lengthened and became more depressed, and the columella was prominent, giving rise to the appearance of a short philtrum, and the nasal profile became more convex. In adolescents and adults, the nasal tip overhung the philtrum, the face tended to lengthen with prognathism, and a long, pointed or 'chisel-shaped' chin might be observed. The uplifted ear lobes did not change much over time, except for the central depression becoming less remarkable. Garavelli et al. (2009) also reviewed the published clinical findings in MOWS patients with ZEB2 mutations. </p><p>Cordelli et al. (2013) performed a retrospective study of the seizure phenotype of 22 Italian patients with genetically confirmed MOWS. The patients ranged in age from 2 to 22 years. The mean age at seizure onset was 14.5 months (range, 1-108 months), and all patients presented initially with a focal seizure, often associated with fever, manifest variably as hypomotor, versive, or focal clonic. This type was followed by a high prevalence of atypical absence seizures later in childhood. Focal seizures were more frequent during drowsiness or sleep. At onset of seizures, EEG was normal or showed only mild slowing of background activity. However, most patients later showed spike and wave discharges, predominantly frontal, that were sometimes continuous during sleep. The seizures were difficult to control with medication; only 9 patients achieved remission with multiple medications. </p><p>Bourchany et al. (2015) reported 4 unrelated patients with Mowat-Wilson syndrome and mutations in the ZEB2 gene who all exhibited eye malformations. Ocular anomalies included microphthalmia, microcornea, irregular border of pupil, corectopia, focal iris atrophy, goniodysgenesis, iris and retinal coloboma, atrophy or absence of the optic nerve, hyphema, and deep refraction troubles, sometimes associated with severely reduced vision. All eye malformations were asymmetric and often unilateral, and all eye segments were involved. Noting that eye abnormalities were rarely reported in MOWS, the authors studied the location of ZEB2 mutations in 12 MOWS patients with ocular malformations, but did not discern any genotype/phenotype correlations. They also noted that the sibs described by McGaughran et al. (2005) exhibited intrafamilial variability, with 1 sib having an aplastic optic nerve with central chorioretinal coloboma of the left eye, and the other sib having no eye malformations. </p><p><strong><em>Neuropsychologic Features</em></strong></p><p>
Evans et al. (2012) evaluated behavior of 61 MOWS patients using a checklist filled out by parents or caregivers. The data were compared to those from 122 individuals with intellectual disability (ID) from other causes. Patients with MOWS tended to have significantly increased oral behaviors such as chewing or eating non-food items and teeth grinding, increased rate of repetitive behaviors, underreactivity to pain, and happy or elated mood compared to those with other ID causes. Patients with MOWS were significantly less likely to appear depressed, cry easily, not show affection, or remain alone compared to those with other ID causes. The overall MOWS behavioral phenotype was suggestive of a happy affect and sociable demeanor. However, those with MOWS displayed similarly high levels of behavioral problems as those with ID from other causes, with over 30% showing clinically significant levels of behavioral or emotional disturbances such as disruptive behavior, communication disturbances, and anxiety. It was not possible to ascertain IQ levels. </p><p><strong><em>Neuroimaging</em></strong></p><p>
Garavelli et al. (2017) reviewed brain MRIs of 54 Mowat-Wilson patients with a proven ZEB2 defect, compared them with features identified in a thorough review of published cases, and evaluated genotype-phenotype correlations. Ninety-six percent of patients had abnormal MRI results. The most common features were anomalies of the corpus callosum (79.6% of cases), hippocampal abnormalities (77.8%), enlargement of cerebral ventricles (68.5%), and white matter abnormalities (reduction of thickness 40.7%, localized signal alterations 22.2%). Other consistent findings were large basal ganglia and cortical and cerebellar malformations. Most features were underrepresented in the literature. The literature review included 56 cases in whom MRI had been performed and evaluated in detail. </p>
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<strong>Inheritance</strong>
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<p>Most patients with Mowat-Wilson syndrome have de novo heterozygous mutations in the ZEB2 gene (summary by Ghoumid et al., 2013). However, rare affected sibs have been reported, suggesting germline somatic mosaicism in one of the parents (McGaughran et al., 2005; Cecconi et al., 2008). </p><p>Cecconi et al. (2008) reported 2 sisters with Mowat-Wilson syndrome confirmed by genetic analysis. As neither parent was affected, the authors postulated germline somatic mosaicism. Including previous reports, Cecconi et al. (2008) estimated that the recurrence rate of Mowat-Wilson syndrome could be as high as 2.3% (4 of 175; range, 0.6-5.7%). </p>
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<strong>Population Genetics</strong>
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<p>The prevalence of Mowat-Wilson syndrome is estimated to be 1 per 50,000-70,000 live births (summary by Ghoumid et al., 2013). </p>
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<strong>Cytogenetics</strong>
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<p>Engenheiro et al. (2008) reported 2 unrelated patients with Mowat-Wilson syndrome associated with cytogenetic abnormalities resulting in disruption of the ZEB2 gene. One patient had an interstitial 0.6-Mb deletion at chromosome 2q22 including the entire ZEB2 gene that was detected by array comparative genomic hybridization (CGH) at age 13 years after conventional cytogenetic analysis reported a normal karyotype. The other patient had a complex balanced chromosomal rearrangement, t(2;12;18)(q22.3;12q22;q21.33), detected by cytogenetics early in childhood. The 2q22 breakpoint was later found to be in intron 2 of the ZEB2 gene when the patient was about 19 years old. The other breakpoints in this patient were not known to disrupt any genes. Engenheiro et al. (2008) noted that both patients were only properly diagnosed with Mowat-Wilson syndrome after initial cytogenetic findings were investigated further, suggesting that the syndrome may be underdiagnosed. </p>
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<strong>Molecular Genetics</strong>
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<p>In 4 of 5 patients with Hirschsprung disease associated with microcephaly, mental retardation, epilepsy, and characteristic facial features of Mowat-Wilson syndrome, Wakamatsu et al. (2001) identified pathogenic changes in the ZEB2 gene, including 1 deletion and 3 mutations (see, e.g., 605802.0001-606802.0003). No mutation was identified in ZEB2 in the fifth patient. All of the mutations occurred de novo. </p><p>In 3 patients originally described by Mowat et al. (1998), Cacheux et al. (2001) identified mutations in the ZEB2 gene (see, e.g., 605802.0004). </p><p>Horn et al. (2004) reported 2 unrelated patients with Mowat-Wilson syndrome diagnosed on the basis of the characteristic facial features; neither patient had HSCR. Both were found to have deletions in the ZFHX1B gene, confirming the diagnosis. </p><p>Ishihara et al. (2004) identified 5 novel nonsense and frameshift mutations in the ZFHX1B gene in patients with Mowat-Wilson syndrome and characterized the clinical features and molecular basis of a total of 27 cases with mutations or deletions in ZFHX1B. Two novel features, pulmonary artery sling and vaginal septum, were observed in 2 patients, 1 with a frameshift and 1 with a nonsense mutation, respectively. Repeated vomiting attacks were seen in 5 patients; the authors suggested that the attacks were possibly related to epilepsy, as they were controlled by anticonvulsants in 1 patient. Two of their patients with large deletions (10.42 Mb and 8.83 Mb) had significantly delayed psychomotor development, and 1 of them also had a cleft palate and complicated heart disease, features not previously reported in patients with Mowat-Wilson syndrome. </p><p>McGaughran et al. (2005) described a sister and brother with phenotypic Mowat-Wilson syndrome in whom they identified a 1-bp deletion in the ZFHX1B gene (605802.0013). The mutation was not found in the unaffected parents' lymphocyte-derived DNA, suggesting germline mosaicism in the sibs. McGaughran et al. (2005) stated that this was the first report of a sib recurrence of Mowat-Wilson syndrome. </p><p>Zweier et al. (2006) reported a 5-year-old boy with facial features of Mowat-Wilson syndrome but who exhibited an unusually mild phenotype and in whom they identified heterozygosity for a splice site mutation in the ZFHX1B gene (605802.0014). The patient had medially flared broad eyebrows, hypertelorism, pointed nose and chin, and prominent, mildly uplifted earlobes, but the overall facial gestalt was less striking than that of most MOWS patients. His psychomotor development was much better than expected for classic MOWS; by age 4 he spoke in full sentences and had sphincter control. Except for increased disposition to seizures on EEG and body measurements at the 3rd centile, he had no other anomalies frequently observed in MOWS such as agenesis or hypoplasia of the corpus callosum, congenital heart defects, urogenital anomalies, Hirschsprung disease, or constipation. </p><p>Heinritz et al. (2006) described a 2.5-year-old boy with a de novo heterozygous missense mutation in the ZFHX1B gene (605802.0015) who had the overall facial phenotype of Mowat-Wilson syndrome, but with cleft lip and palate and lacking the characteristic eyebrows. The patient also had brachytelephalangy, which the authors stated had never been described before in Mowat-Wilson syndrome. </p><p>Dastot-Le Moal et al. (2007) stated that more than 110 different mutations in the ZEB2 gene had been described. Nonsense mutations accounted for approximately 41% of the known punctual mutations and have been localized mainly in exon 8. No obvious genotype-phenotype correlations have been observed. </p><p>De Pontual et al. (2006) genotyped the RET (164761) locus in 30 patients with Mowat-Wilson syndrome who were known to have mutations in the ZFHX1B gene; no significant differences in SNP distribution of the nonsyndromic HSCR-predisposing RET haplotype (ATA) were observed between MOWS patients with and without HSCR. De Pontual et al. (2006) concluded that there are both RET-dependent and RET-independent HSCR cases and suggested that at least 1 more modifier gene must be involved. </p>
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<strong>Genotype/Phenotype Correlations</strong>
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<p>The majority of ZEB2 mutations identified in patients with Mowat-Wilson syndrome lead to haploinsufficiency through premature termination or large gene deletions. In 3 unrelated patients with a mild form of MOWS, Ghoumid et al. (2013) identified 3 different heterozygous missense mutations in the ZEB2 gene (see, e.g., S1071P, 605802.0016 and H1045R, 605802.0017). All 3 mutations occurred in the conserved C-terminal zinc finger cluster domain. In vitro functional expression studies showed that these 3 mutant proteins lost the ability to bind to the E-cadherin (CDH1; 192090) promoter and to repress transcription of this target gene, consistent with a loss of function and without a dominant-negative effect. However, these mutant mRNAs showed significant phenotypic rescue of morpholino knockout zebrafish embryos: complete rescue with S1071P (84%) and partial rescue with H1045R (55%), indicating that they are hypomorphic alleles; wildtype mRNA showed 81% rescue. The patients had mild facial gestalt of MOWS and moderate intellectual disability, but no microcephaly, heart defects, or HSCR. The variable embryonic rescue correlated with the severity of the patients' phenotype. </p>
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<strong>REFERENCES</strong>
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Adam, M. P., Schelley, S., Gallagher, R., Brady, A. N., Barr, K., Blumberg, B., Shieh, J. T. C., Graham, J., Slavotinek, A., Martin, M., Keppler-Noreuil, K., Storm, A. L., Hudgins, L.
<strong>Clinical features and management issues in Mowat-Wilson syndrome.</strong>
Am. J. Med. Genet. 140A: 2730-2741, 2006.
[PubMed: 17103451]
[Full Text: https://doi.org/10.1002/ajmg.a.31530]
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<li>
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Amiel, J., Espinosa-Parrilla, Y., Steffann, J., Gosset, P., Pelet, A., Prieur, M., Boute, O., Choiset, A., Lacombe, D., Philip, N., Le Merrer, M., Tanaka, H., Till, M., Touraine, R., Toutain, A., Vekemans, M., Munnich, A., Lyonnet, S.
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[PubMed: 11595972]
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Bourchany, A., Giurgea, I., Thevenon, J., Goldenberg, A., Morin, G., Bremond-Gignac, D., Paillot, C., Lafontaine, P. O., Thouvenin, D., Massy, J., Duncombe, A., Thauvin-Robinet, C., Masurel-Paulet, A., El Chehadeh, S., Huet, F., Bron, A., Creuzot-Garcher, C., Lyonnet, S., Faivre, L.
<strong>Clinical spectrum of eye malformations in four patients with Mowat-Wilson syndrome.</strong>
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Cecconi, M., Forzano, F., Garavelli, L., Pantaleoni, C., Grasso, M., Bricarelli, F. D., Perroni, L., Di Maria, E., Faravelli, F.
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Cerruti Mainardi, P., Pastore, G., Zweier, C., Rauch, A.
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</p>
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<p class="mim-text-font">
Cordelli, D. M., Garavelli, L., Savasta, S., Guerra, A., Pellicciari, A., Giordano, L., Bonetti, S., Cecconi, I., Wischmeijer, A., Seri, M., Rosato, S., Gelmini, C., and 28 others.
<strong>Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype.</strong>
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[PubMed: 23322667]
[Full Text: https://doi.org/10.1002/ajmg.a.35717]
</p>
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Dastot-Le Moal, F., Wilson, M., Mowat, D., Collot, N., Niel, F., Goossens, M.
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Hum. Mutat. 28: 313-321, 2007.
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de Pontual, L., Pelet, A., Trochet, D., Jaubert, F., Espinosa-Parrilla, Y., Munnich, A., Brunet, J.-F., Goridis, C., Feingold, J., Lyonnet, S., Amiel, J.
<strong>Mutations of the RET gene in isolated and syndromic Hirschsprung&#x27;s disease in human disclose major and modifier alleles at a single locus.</strong>
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[PubMed: 16443855]
[Full Text: https://doi.org/10.1136/jmg.2005.040113]
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Engenheiro, E., Moller, R. S., Pinto, M., Soares, G., Nikanorova, M., Carreira, I. M., Ullmann, R., Tommerup, N., Tumer, Z.
<strong>Mowat-Wilson syndrome: an underdiagnosed syndrome?</strong>
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[PubMed: 18445050]
[Full Text: https://doi.org/10.1111/j.1399-0004.2008.00997.x]
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<p class="mim-text-font">
Evans, E., Einfeld, S., Mowat, D., Taffe, J., Tonge, B., Wilson, M.
<strong>The behavioral phenotype of Mowat-Wilson syndrome.</strong>
Am. J. Med. Genet. 158A: 358-366, 2012.
[PubMed: 22246645]
[Full Text: https://doi.org/10.1002/ajmg.a.34405]
</p>
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Garavelli, L., Donadio, A., Zanacca, C., Banchini, G., Della Giustina, E., Bertani, G., Albertini, G., Del Rossi, C., Zweier, C., Rauch, A., Zollino, M., Neri, G.
<strong>Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): confirmation of the Mowat-Wilson syndrome. (Letter)</strong>
Am. J. Med. Genet. 116A: 385-388, 2003.
[PubMed: 12522797]
[Full Text: https://doi.org/10.1002/ajmg.a.10855]
</p>
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<li>
<p class="mim-text-font">
Garavelli, L., Ivanovski, I., Caraffi, S. G., Santodirocco, D., Pollazzon, M., Cordelli, D. M., Abdalla, E., Accorsi, P., Adam, M. P., Baldo, C., Bayat, A., Belligni, E., and 46 others.
<strong>Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.</strong>
Genet. Med. 19: 691-700, 2017.
[PubMed: 27831545]
[Full Text: https://doi.org/10.1038/gim.2016.176]
</p>
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<li>
<p class="mim-text-font">
Garavelli, L., Zollino, M., Cerruti Mainardi, P., Gurrieri, F., Rivieri, F., Soli, F., Verri, R., Albertini, E., Favaron, E., Zignani, M., Orteschi, D., Bianchi, P., and 24 others.
<strong>Mowat-Wilson syndrome: facial phenotype changing with age: study of 19 Italian patients and review of the literature.</strong>
Am. J. Med. Genet. 149A: 417-426, 2009.
[PubMed: 19215041]
[Full Text: https://doi.org/10.1002/ajmg.a.32693]
</p>
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Ghoumid, J., Drevillon, L., Alavi-Naini, S. M., Bondurand, N., Rio, M., Briand-Suleau, A., Nasser, M., Goodwin, L., Raymond, P., Yanicostas, C., Goossens, M., Lyonnet, S., Mowat, D., Amiel, J., Soussi-Yanicostas, N., Giurgea, I.
<strong>ZEB2 zinc-finger missense mutations lead to hypomorphic alleles and a mild Mowat-Wilson syndrome.</strong>
Hum. Molec. Genet. 22: 2652-2661, 2013.
[PubMed: 23466526]
[Full Text: https://doi.org/10.1093/hmg/ddt114]
</p>
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Heinritz, W., Zweier, C., Froster, U. G., Strenge, S., Kujat, A., Syrbe, S., Rauch, A., Schuster, V.
<strong>A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.</strong>
Am. J. Med. Genet. 140A: 1223-1227, 2006.
[PubMed: 16688751]
[Full Text: https://doi.org/10.1002/ajmg.a.31267]
</p>
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<p class="mim-text-font">
Horn, D., Weschke, B., Zweier, C., Rauch, A.
<strong>Facial phenotype allows diagnosis of Mowat-Wilson syndrome in the absence of Hirschsprung disease. (Letter)</strong>
Am. J. Med. Genet. 124A: 102-104, 2004.
[PubMed: 14679597]
[Full Text: https://doi.org/10.1002/ajmg.a.20298]
</p>
</li>
<li>
<p class="mim-text-font">
Hurst, J. A., Markiewicz, M., Kumar, D., Brett, E. M.
<strong>Unknown syndrome: Hirschsprung&#x27;s disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration.</strong>
J. Med. Genet. 25: 494-497, 1988.
[PubMed: 3172144]
[Full Text: https://doi.org/10.1136/jmg.25.7.494]
</p>
</li>
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<p class="mim-text-font">
Ishihara, N., Yamada, K., Yamada, Y., Miura, K., Kato, J., Kuwabara, N., Hara, Y., Kobayashi, Y., Hoshino, K., Nomura, Y., Mimaki, M., Ohya, K., and 16 others.
<strong>Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1. (Letter)</strong>
J. Med. Genet. 41: 387-393, 2004.
[PubMed: 15121779]
[Full Text: https://doi.org/10.1136/jmg.2003.016154]
</p>
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<p class="mim-text-font">
McGaughran, J., Sinnott, S., Dastot-Le Moal, F., Wilson, M., Mowat, D., Sutton, B., Goossens, M.
<strong>Recurrence of Mowat-Wilson syndrome in siblings with the same proven mutation.</strong>
Am. J. Med. Genet. 137A: 302-304, 2005.
[PubMed: 16088920]
[Full Text: https://doi.org/10.1002/ajmg.a.30896]
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Mowat, D. R., Croaker, G. D. H., Cass, D. T., Kerr, B. A., Chaitow, J., Ades, L. C., Chia, N. L., Wilson, M. J.
<strong>Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.</strong>
J. Med. Genet. 35: 617-623, 1998.
[PubMed: 9719364]
[Full Text: https://doi.org/10.1136/jmg.35.8.617]
</p>
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Mowat, D. R., Wilson, M. J., Goossens, M.
<strong>Mowat-Wilson syndrome.</strong>
J. Med. Genet. 40: 305-310, 2003.
[PubMed: 12746390]
[Full Text: https://doi.org/10.1136/jmg.40.5.305]
</p>
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<p class="mim-text-font">
Ohnuma, K., Imaizumi, K., Masuno, M., Nakamura, M., Kuroki, Y.
<strong>Magnetic resonance imaging abnormalities of the brain in Goldberg-Shprintzen syndrome (Hirschsprung disease, microcephaly, and iris coloboma). (Letter)</strong>
Am. J. Med. Genet. 73: 230-232, 1997.
[PubMed: 9409878]
</p>
</li>
<li>
<p class="mim-text-font">
Silengo, M., Ferrero, G. B., Wakamatsu, N.
<strong>Pachygyria and cerebellar hypoplasia in a patient with a 2q22-q23 deletion that includes the ZFHX1B gene. (Letter)</strong>
Am. J. Med. Genet. 127A: 109 only, 2004.
[PubMed: 15103730]
[Full Text: https://doi.org/10.1002/ajmg.a.20607]
</p>
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<p class="mim-text-font">
Strenge, S., Heinritz, W., Zweier, C., Rauch, A., Rolle, U., Merkenschlager, A., Froster, U. G.
<strong>Pulmonary artery sling and congenital tracheal stenosis in another patient with Mowat-Wilson syndrome. (Letter)</strong>
Am. J. Med. Genet. 143A: 1528-1530, 2007.
[PubMed: 17567886]
[Full Text: https://doi.org/10.1002/ajmg.a.31801]
</p>
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Tanaka, H., Ito, J., Cho, K., Mikawa, M.
<strong>Hirschsprung disease, unusual face, mental retardation, epilepsy, and congenital heart disease: Goldberg-Shprintzen syndrome.</strong>
Pediat. Neurol. 9: 479-481, 1993.
[PubMed: 7605558]
[Full Text: https://doi.org/10.1016/0887-8994(93)90029-c]
</p>
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<p class="mim-text-font">
Wakamatsu, N., Yamada, Y., Yamada, K., Ono, T., Nomura, N., Taniguchi, H., Kitoh, H., Mutoh, N., Yamanaka, T., Mushiake, K., Kato, K., Sonta, S., Nagaya, M.
<strong>Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease.</strong>
Nature Genet. 27: 369-370, 2001.
[PubMed: 11279515]
[Full Text: https://doi.org/10.1038/86860]
</p>
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<li>
<p class="mim-text-font">
Wilson, M., Mowat, D., Dastot-Le Moal, F., Cacheux, V., Kaariainen, H., Cass, D., Donnai, D., Clayton-Smith, J., Townshend, S., Curry, C., Gattas, M., Braddock, S., Kerr, B., Aftimos, S., Zehnwirth, H., Barrey, C., Goossens, M.
<strong>Further delineation of the phenotype associated with heterozygous mutations in ZFHX1B.</strong>
Am. J. Med. Genet. 119A: 257-265, 2003.
[PubMed: 12784289]
[Full Text: https://doi.org/10.1002/ajmg.a.20053]
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Yamada, K., Yamada, Y., Nomura, N., Miura, K., Wakako, R., Hayakawa, C., Matsumoto, A., Kumagai, T., Yoshimura, I., Miyazaki, S., Kato, K., Sonta, S., Ono, H., Yamanaka, T., Nagaya, M., Wakamatsu, N.
<strong>Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features.</strong>
Am. J. Hum. Genet. 69: 1178-1185, 2001.
[PubMed: 11592033]
[Full Text: https://doi.org/10.1086/324343]
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Yoneda, M., Fujita, T., Yamada, Y., Yamada, K., Fujii, A., Inagaki, T., Nakagawa, H., Shimada, A., Kishikawa, M., Nagaya, M., Azuma, T., Kuriyama, M., Wakamatsu, N.
<strong>Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B.</strong>
Neurology 59: 1637-1640, 2002.
[PubMed: 12451214]
[Full Text: https://doi.org/10.1212/01.wnl.0000034842.78350.4e]
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<p class="mim-text-font">
Zweier, C., Albrecht, B., Mitulla, B., Behrens, R., Beese, M., Gillessen-Kaesbach, G., Rott, H.-D., Rauch, A.
<strong>&#x27;Mowat-Wilson&#x27; syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene.</strong>
Am. J. Med. Genet. 108: 177-181, 2002.
[PubMed: 11891681]
</p>
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<p class="mim-text-font">
Zweier, C., Horn, D., Kraus, C., Rauch, A.
<strong>Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype.</strong>
Am. J. Med. Genet. 140A: 869-872, 2006.
[PubMed: 16532472]
[Full Text: https://doi.org/10.1002/ajmg.a.31196]
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Zweier, C., Temple, I. K., Beemer, F., Zackai, E., Lerman-Sagie, T., Weschke, B., Anderson, C. E., Rauch, A.
<strong>Characterisation of deletions of the ZFHX1B region and genotype-phenotype analysis in Mowat-Wilson syndrome.</strong>
J. Med. Genet. 40: 601-605, 2003.
[PubMed: 12920073]
[Full Text: https://doi.org/10.1136/jmg.40.8.601]
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Zweier, C., Thiel, C. T., Dufke, A., Crow, Y. J., Meinecke, P., Suri, M., Ala-Mello, S., Beemer, F., Bernasconi, S., Bianchi, P., Bier, A., Devriendt, K., and 30 others.
<strong>Clinical and mutational spectrum of Mowat-Wilson syndrome.</strong>
Europ. J. Med. Genet. 48: 97-111, 2005.
[PubMed: 16053902]
[Full Text: https://doi.org/10.1016/j.ejmg.2005.01.003]
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