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Entry
- #216550 - COHEN SYNDROME; COH1
- OMIM
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<span class="h4">#216550</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/216550"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#mapping">Mapping</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=COHEN 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="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=445&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div style="display: table-row">
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0111590" 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/216550" 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/OMIA001428/" 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>
</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> 56604005<br />
<strong>ORPHA:</strong> 193<br />
<strong>DO:</strong> 0111590<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>
216550
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
COHEN SYNDROME; COH1
</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">
COH<br />
HYPOTONIA, OBESITY, AND PROMINENT INCISORS<br />
PEPPER SYNDROME<br />
CHS1, FORMERLY
</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/8/437?start=-3&limit=10&highlight=437">
8q22.2
</a>
</span>
</td>
<td>
<span class="mim-font">
Cohen syndrome
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/216550"> 216550 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
VPS13B
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607817"> 607817 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/216550" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/216550" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/216550" 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 recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Height </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Weight </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Truncal obesity developing in midchildhood <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4538566&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4538566</a>]</span><br /> -
Low birth weight <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276610007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276610007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267258002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267258002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024032&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024032</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001518</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 />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short philtrum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861324&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861324</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000322</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=16ecf2e0f23dddf7b8b7cf447ceb827b" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Philtrum,Short-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=16ecf2e0f23dddf7b8b7cf447ceb827b&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 /> -
Maxillary hypoplasia <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.03</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240310&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240310</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000327" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000327</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000327" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000327</a>]</span><br /> -
Micrognathia, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854683&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854683</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32958008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32958008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.04</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Micrognathia-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882&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 /> -
Facial hypotonia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845251&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845251</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000297" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000297</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000297" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000297</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Downslanting palpebral fissures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246800008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246800008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423110&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423110</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000494</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000494</a>]</span><br /> -
Almond-shaped eyes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4024780&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4024780</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007874" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007874</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007874" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007874</a>]</span><br /> -
Chorioretinal dystrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857627&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857627</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001135" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001135</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001135" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001135</a>]</span><br /> -
Myopia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57190000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57190000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H52.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H52.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/367.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">367.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027092&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027092</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000545</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000545</a>]</span><br /> -
Decreased visual acuity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13164000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13164000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234632&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234632</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007663" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007663</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007663" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007663</a>]</span><br /> -
Optic atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/76976005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">76976005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.2</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/377.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/377.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029124&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029124</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000648</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000648</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">
- Prominent nasal bridge <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854113&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854113</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000426" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000426</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000426" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000426</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=25fd1a02ef10b4687f73378521b408f6" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Nasal_Bridge,Prominent-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=25fd1a02ef10b4687f73378521b408f6&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> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- High, narrow palate <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837404&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837404</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002705" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002705</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002705" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002705</a>]</span><br /> -
Open mouth appearance <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/262016004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">262016004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240379</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000194" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000194</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000194" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000194</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">
- Prominent upper central incisors <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853637&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853637</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">
- Mitral valve prolapse <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409712001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409712001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8074002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8074002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026267&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026267</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001634" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001634</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001634" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001634</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Spine </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Lumbar lordosis, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857629&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857629</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/313471000119104" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">313471000119104</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002938</a>]</span><br /> -
Thoracic scoliosis, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857630&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857630</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002943" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002943</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Limbs </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Joint hyperextensibility <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/788453008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">788453008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862377</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001382</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001382</a>]</span><br /> -
Cubitus valgus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54583007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54583007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70123009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70123009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.01</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265611&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265611</a>, <a href="https://bioportal.bioontology.org/search?q=C0158465&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158465</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002967" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002967</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002967" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002967</a>]</span><br /> -
Genu valgum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299330008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299330008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52012001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52012001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.06" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.06</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158484&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158484</a>, <a href="https://bioportal.bioontology.org/search?q=C0576093&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0576093</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002857" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002857</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002857" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002857</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Narrow hands <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857632&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857632</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004283" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004283</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004283" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004283</a>]</span><br /> -
Shortening of metacarpals, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857633&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857633</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010049" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010049</a>]</span><br /> -
Transverse palmar creases <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248409006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248409006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424731&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424731</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000954" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000954</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Narrow feet <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299464006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299464006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0576227&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0576227</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001786" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001786</a>]</span><br /> -
Short metatarsals, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232341&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232341</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010743" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010743</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 <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a>, <a href="https://bioportal.bioontology.org/search?q=C0025362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
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 /> -
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 /> -
Delayed motor milestones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854301&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854301</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span><br /> -
Large corpus callosum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835194&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835194</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007074" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007074</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007074" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007074</a>]</span><br /> -
Cerebellar hypoplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16026008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16026008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266470&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266470</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001321" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001321</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001321" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001321</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ENDOCRINE FEATURES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Delayed puberty <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/400003000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">400003000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/123526007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">123526007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E30.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E30.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034012&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034012</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000823" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000823</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000823" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000823</a>]</span><br /> -
Growth hormone deficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397827003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397827003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/2109003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">2109003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0271561&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0271561</a>, <a href="https://bioportal.bioontology.org/search?q=C3714796&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714796</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034323" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034323</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034323" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034323</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEMATOLOGY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Leukopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/419188005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">419188005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84828003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84828003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D72.819" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D72.819</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D72.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D72.81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/288.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.50</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/288.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0750394&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0750394</a>, <a href="https://bioportal.bioontology.org/search?q=C0023530&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023530</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001882</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001882</a>]</span><br /> -
Neutropenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/303011007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">303011007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/165517008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">165517008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/84828003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">84828003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D70</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D72.819" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D72.819</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D70.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D70.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/288.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/288.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.50</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/288.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0853697&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0853697</a>, <a href="https://bioportal.bioontology.org/search?q=C0027947&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027947</a>, <a href="https://bioportal.bioontology.org/search?q=C0023530&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023530</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001875" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001875</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001882</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001875" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001875</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Cheerful disposition <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857636</a>]</span><br /> -
Increased frequency in Ashkenazi Jewish population and in Finland<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the homolog of the yeast vacuolar protein sorting 13 gene (VPS13B, <a href="/entry/607817#0001">607817.0001</a>)<br />
</span>
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<p>A number sign (#) is used with this entry because of evidence that some patients with Cohen syndrome have homozygous or compound heterozygous mutations in the COH1 gene (VPS13B; <a href="/entry/607817">607817</a>) on chromosome 8q22.</p>
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<p>Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia (summary by <a href="#8" class="mim-tip-reference" title="Duplomb, L., Duvet, S., Picot, D., Jego, G., El Chehadeh-Djebbar, S., Marle, N., Gigot, N., Aral, B., Carmignac, V., Thevenon, J., Lopez, E., Riviere, J.-B., and 13 others. &lt;strong&gt;Cohen syndrome is associated with major glycosylation defects.&lt;/strong&gt; Hum. Molec. Genet. 23: 2391-2399, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24334764/&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;24334764&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddt630&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="24334764">Duplomb et al., 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24334764" 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>Cohen syndrome is one of the rare autosomal recessive disorders that are overrepresented in the Finnish population (<a href="#41" class="mim-tip-reference" title="Norio, R. &lt;strong&gt;The Finnish disease heritage. I. Characteristics, causes, background.&lt;/strong&gt; Hum. Genet. 112: 441-456, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12627295/&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;12627295&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00439-002-0875-3&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="12627295">Norio, 2003</a>). The phenotype in Finnish patients is highly homogeneous, consisting of nonprogressive mild to severe psychomotor retardation, motor clumsiness, microcephaly, characteristic facial features, childhood hypotonia and joint laxity, progressive retinochoroidal dystrophy, myopia, intermittent isolated neutropenia, and a cheerful disposition. Characteristic facial features include high-arched or wave-shaped eyelids, a short philtrum, thick hair, and low hairline. <a href="#27" class="mim-tip-reference" title="Kolehmainen, J., Black, G. C. M., Saarinen, A., Chandler, K., Clayton-Smith, J., Traskelin, A.-L., Perveen, R., Kivitie-Kallio, S., Norio, R., Warburg, M., Fryns, J.-P., de la Chapelle, A., Lehesjoki, A.-E. &lt;strong&gt;Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.&lt;/strong&gt; Am. J. Hum. Genet. 72: 1359-1369, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12730828/&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;12730828&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=12730828[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/10.1086/375454&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="12730828">Kolehmainen et al. (2003)</a> stated that in non-Finnish patients thought to have Cohen syndrome, a confusing phenotypic variability prevails. Obesity, although frequently mentioned as a characteristic finding, is insignificant. On the other hand, there is no proof of retinochoroidal dystrophy or intermittent neutropenia in reports of some patients. <a href="#5" class="mim-tip-reference" title="Chandler, K. E., Kidd, A., Al-Gazali, L., Kolehmainen, J., Lehesjoki, A.-E., Black, G. C. M., Clayton-Smith, J. &lt;strong&gt;Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome.&lt;/strong&gt; J. Med. Genet. 40: 233-241, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12676892/&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;12676892&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.40.4.233&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="12676892">Chandler et al. (2003)</a> studied 33 non-Finnish patients with Cohen syndrome and concluded that Cohen syndrome has a distinctive clinical phenotype identifiable not only in Finnish patients but also in other genetically diverse patient groups. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12730828+12627295+12676892" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Cohen, M. M., Jr., Hall, B. D., Smith, D. W., Graham, C. B., Lampert, K. J. &lt;strong&gt;A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular and limb anomalies.&lt;/strong&gt; J. Pediat. 83: 280-284, 1973.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4717588/&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;4717588&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(73)80493-7&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="4717588">Cohen et al. (1973)</a> described a brother and sister and an unrelated patient with hypotonia, obesity, high nasal bridge, and prominent incisors as well as mental deficiency. <a href="#4" class="mim-tip-reference" title="Carey, J. C., Hall, B. D. &lt;strong&gt;Confirmation of the Cohen syndrome.&lt;/strong&gt; J. Pediat. 93: 239-244, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/671157/&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;671157&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(78)80504-6&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="671157">Carey and Hall (1978)</a> reported 4 additional patients. <a href="#48" class="mim-tip-reference" title="Sack, J., Friedman, E. &lt;strong&gt;Cardiac involvement in the Cohen syndrome: a case report.&lt;/strong&gt; Clin. Genet. 17: 317-319, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7438489/&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;7438489&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1980.tb00156.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="7438489">Sack and Friedman (1980)</a> observed the syndrome in a 10-year-old girl with excessive height and floppy mitral valve. Intrafamilial variability suggested that the diagnosis may often be difficult. <a href="#32" class="mim-tip-reference" title="Kousseff, B. G. &lt;strong&gt;Cohen syndrome: further delineation and inheritance.&lt;/strong&gt; Am. J. Med. Genet. 9: 25-30, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7246618/&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;7246618&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320090106&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="7246618">Kousseff (1981)</a> described 4 affected sibs (2 of each sex) with moderate mental retardation, microcephaly, hypotonia, high nasal bridge, and narrow hands and feet with elongated fingers and toes. Three sibs were short of stature. <a href="#11" class="mim-tip-reference" title="Friedman, E., Sack, J. &lt;strong&gt;The Cohen syndrome: report of five new cases and a review of the literature.&lt;/strong&gt; J. Craniofac. Genet. Dev. Biol. 2: 193-200, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7166592/&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;7166592&lt;/a&gt;]" pmid="7166592">Friedman and Sack (1982)</a> reported 5 additional cases in 4 families, strengthening the conclusion of autosomal recessive inheritance. Mental retardation, high nasal bridge, prominent central incisors with open mouth, maxillary malar hypoplasia, and downslanting palpebral fissures were features. They suggested that the disorder may have a relatively high frequency in Ashkenazi Jews. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7438489+4717588+7166592+671157+7246618" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Since 1968, <a href="#38" class="mim-tip-reference" title="Norio, R., Raitta, C., Lindahl, E. &lt;strong&gt;Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity.&lt;/strong&gt; Clin. Genet. 25: 1-14, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6705238/&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;6705238&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1984.tb00456.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="6705238">Norio et al. (1984)</a> had observed patients with the same disorder, known by them as the 'Pepper syndrome,' from the family name. By 1984, they found reports of 25 cases (<a href="#1" class="mim-tip-reference" title="Balestrazzi, P., Corrini, L., Villani, G., Bolla, M. P., Casa, F., Bernasconi, S. &lt;strong&gt;The Cohen syndrome: clinical and endocrinological studies of two new cases.&lt;/strong&gt; J. Med. Genet. 17: 430-432, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6782211/&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;6782211&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.17.6.430&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="6782211">Balestrazzi et al., 1980</a>; <a href="#15" class="mim-tip-reference" title="Goecke, T., Majewski, F., Kauther, K. D., Sterzel, U. &lt;strong&gt;Mental retardation, hypotonia, obesity, ocular, facial, dental, and limb abnormalities (Cohen syndrome); report of three patients.&lt;/strong&gt; Europ. J. Pediat. 138: 338-340, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7128643/&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;7128643&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00442512&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="7128643">Goecke et al., 1982</a>) and added 6 Finnish patients. <a href="#38" class="mim-tip-reference" title="Norio, R., Raitta, C., Lindahl, E. &lt;strong&gt;Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity.&lt;/strong&gt; Clin. Genet. 25: 1-14, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6705238/&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;6705238&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1984.tb00456.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="6705238">Norio et al. (1984)</a> added chorioretinal dystrophy and granulocytopenia to the clinical features and observed parental consanguinity in 2 instances. Ophthalmologic findings included decreased visual acuity, hemeralopia (see <a href="/entry/310500">310500</a> for a discussion of the use of the terms hemeralopia and nyctalopia), constricted visual fields, chorioretinal dystrophy with bull's-eye-like maculae and pigmentary deposits, optic atrophy, and isoelectric electroretinogram. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7128643+6705238+6782211" 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="Fuhrmann-Rieger, A., Kohler, A., Fuhrmann, W. &lt;strong&gt;Duplication or insertion in 15q11-13 associated with mental retardation--short stature and obesity--Prader-Willi or Cohen syndrome?&lt;/strong&gt; Clin. Genet. 25: 347-352, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6713711/&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;6713711&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1984.tb02002.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="6713711">Fuhrmann-Rieger et al. (1984)</a> pointed out the similarities of the Prader-Willi syndrome (<a href="/entry/176270">176270</a>) and Cohen syndrome. (See also <a href="#10" class="mim-tip-reference" title="Fraccaro, M., Zuffardi, O., Buhler, E., Schinzel, A., Simoni, G., Witkowski, R., Bonifaci, E., Caufin, D., Cignacco, G., Delendi, N., Gargantini, L., Losanowa, T., Marca, L., Ullrich, E., Vigi, V. &lt;strong&gt;Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome: analysis of seven cases after varying ascertainment.&lt;/strong&gt; Hum. Genet. 64: 388-394, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6618490/&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;6618490&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00292373&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="6618490">Fraccaro et al., 1983</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6618490+6713711" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#42" class="mim-tip-reference" title="North, C., Patton, M. A., Baraitser, M., Winter, R. M. &lt;strong&gt;The clinical features of the Cohen syndrome: further case reports.&lt;/strong&gt; J. Med. Genet. 22: 131-134, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3989828/&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;3989828&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.22.2.131&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="3989828">North et al. (1985)</a> reported 6 cases in 4 sibships. Periureteric obstruction and epilepsy were reported as possible new features. In Israel, where the Cohen syndrome seems to be unusually frequent, <a href="#49" class="mim-tip-reference" title="Sack, J., Friedman, E. &lt;strong&gt;The Cohen syndrome in Israel.&lt;/strong&gt; Israel J. Med. Sci. 22: 766-770, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2432032/&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;2432032&lt;/a&gt;]" pmid="2432032">Sack and Friedman (1986)</a> studied 39 patients in 32 families. Neutropenia and chorioretinal dysplasia, 2 manifestations found in all Finnish patients by <a href="#38" class="mim-tip-reference" title="Norio, R., Raitta, C., Lindahl, E. &lt;strong&gt;Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity.&lt;/strong&gt; Clin. Genet. 25: 1-14, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6705238/&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;6705238&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1984.tb00456.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="6705238">Norio et al. (1984)</a>, were not found in any of these patients. Incorrect diagnoses included Marfan syndrome, Sotos syndrome, hypothyroidism, minimal brain dysfunction, and, most frequently, 'mental retardation of an unknown cause,' illustrating the difficulty of being certain of the diagnosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3989828+2432032+6705238" 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="#57" class="mim-tip-reference" title="Young, I. D., Moore, J. R. &lt;strong&gt;Intrafamilial variation in Cohen syndrome.&lt;/strong&gt; J. Med. Genet. 24: 488-492, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3656371/&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;3656371&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.24.8.488&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="3656371">Young and Moore (1987)</a> described 3 affected sibs. Abnormalities present in all 3 children included mental retardation, hypotonia, and short philtrum with open mouth and prominent lips. Whereas the 2 older sibs had similar facies and an engaging personality, the youngest had a different facial appearance and marked behavioral problems. <a href="#37" class="mim-tip-reference" title="Mehes, K., Kosztolanyi, G., Kardos, M., Horvath, M. &lt;strong&gt;Cohen syndrome: a connective tissue disorder?&lt;/strong&gt; Am. J. Med. Genet. 31: 131-133, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3223494/&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;3223494&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320310115&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="3223494">Mehes et al. (1988)</a> found mitral valve prolapse and severe gastroesophageal reflux with hiatal hernia in an affected girl aged 2 years and 4 months. These observations, along with others previously reported, suggested that Cohen syndrome may be a connective tissue disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3656371+3223494" 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="Kondo, I., Nagataki, S., Miyagi, N. &lt;strong&gt;The Cohen syndrome: does mottled retina separate a Finnish and a Jewish type?&lt;/strong&gt; Am. J. Med. Genet. 37: 109-113, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2240027/&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;2240027&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320370126&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="2240027">Kondo et al. (1990)</a> described 2 affected brothers from a consanguineous marriage who also had leukopenia and mottled retina. <a href="#31" class="mim-tip-reference" title="Kondo, I., Nagataki, S., Miyagi, N. &lt;strong&gt;The Cohen syndrome: does mottled retina separate a Finnish and a Jewish type?&lt;/strong&gt; Am. J. Med. Genet. 37: 109-113, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2240027/&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;2240027&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320370126&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="2240027">Kondo et al. (1990)</a> pointed out that mottled retina had been observed in 22 of 87 patients and that it appears to be family- and ethnic-specific. Among 19 familial cases, mottled retina was observed in all affected sibs from 5 families, but in 13 families none of the affected sibs had mottled retinas. All Finnish patients had the mottled retina, but this was noted in only 1 of 39 Jewish patients. Based on these observations, <a href="#31" class="mim-tip-reference" title="Kondo, I., Nagataki, S., Miyagi, N. &lt;strong&gt;The Cohen syndrome: does mottled retina separate a Finnish and a Jewish type?&lt;/strong&gt; Am. J. Med. Genet. 37: 109-113, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2240027/&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;2240027&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320370126&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="2240027">Kondo et al. (1990)</a> suggested that there are 2 alleles at the gene locus for the Cohen syndrome: one for a Finnish type with mottled retina and the other for a Jewish type without retinal anomalies. They concurred with <a href="#39" class="mim-tip-reference" title="Norio, R., Raitta, C. &lt;strong&gt;Are the Mirhosseini-Holmes-Walton syndrome and the Cohen syndrome identical?&lt;/strong&gt; Am. J. Med. Genet. 25: 397-398, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3096139/&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;3096139&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320250227&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="3096139">Norio and Raitta (1986)</a> that the Mirhosseini-Holmes-Walton syndrome (<a href="/entry/268050">268050</a>) is the same as Cohen syndrome, or at least an allelic disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2240027+3096139" 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="#52" class="mim-tip-reference" title="Steinlein, O., Tariverdian, G., Boll, H. U., Vogel, F. &lt;strong&gt;Tapetoretinal degeneration in brothers with apparent Cohen syndrome: nosology with Mirhosseini-Holmes-Walton syndrome.&lt;/strong&gt; Am. J. Med. Genet. 41: 196-200, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1785634/&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;1785634&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320410213&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="1785634">Steinlein et al. (1991)</a> described 2 brothers with findings fitting the diagnosis of both the Cohen and the Mirhosseini-Holmes-Walton syndromes but also showing severe ocular manifestations. Tapetoretinal degeneration was documented by histopathologic studies. The younger brother suffered total retinal detachment bilaterally, requiring enucleation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1785634" 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="#55" class="mim-tip-reference" title="Warburg, M., Pedersen, S. A., Horlyk, H. &lt;strong&gt;The Cohen syndrome: retinal lesions and granulocytopenia.&lt;/strong&gt; Ophthalmic Paediat. Genet. 11: 7-13, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2348983/&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;2348983&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.3109/13816819009012943&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="2348983">Warburg et al. (1990)</a> were of the opinion that a retinitis pigmentosa-like tapetoretinal degeneration is an 'obligatory sign' in patients with Cohen syndrome. Their patient also had granulocytopenia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2348983" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#34" class="mim-tip-reference" title="Massa, G., Dooms, L., Vanderschueren-Lodeweyckx, M. &lt;strong&gt;Growth hormone deficiency in a girl with the Cohen syndrome.&lt;/strong&gt; J. Med. Genet. 28: 48-50, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1999833/&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;1999833&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.28.1.48&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="1999833">Massa et al. (1991)</a> described isolated growth hormone deficiency in a girl with Cohen syndrome. Satisfactory catch-up growth occurred after treatment with biosynthetic human growth hormone. <a href="#12" class="mim-tip-reference" title="Fryns, J. P., Lemmens, F., van den Berghe, H. &lt;strong&gt;Cohen syndrome: fertility in a female patient.&lt;/strong&gt; Clin. Genet. 40: 461-464, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1778007/&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;1778007&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1991.tb03118.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="1778007">Fryns et al. (1991)</a> reported a successful pregnancy in a 26-year-old woman with presumed Cohen syndrome. Her offspring had slight psychomotor retardation but was not thought to have the Cohen syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1999833+1778007" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#40" class="mim-tip-reference" title="Norio, R. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Helsinki, Finland 5/29/1993."None>Norio (1993)</a> indicated that the diagnosis of Cohen syndrome is suggested by the short philtrum (which is unable to cover the upper incisors), prominent root of the nose, and prominent upper central incisors. The feet are often small, and there is usually an increased space between toes 1 and 2 ('sandal groove'). The neutropenia is intermittent and harmless.</p><p><a href="#17" class="mim-tip-reference" title="Higgins, J. J., Kaneski, C. R., Bernardini, I., Brady, R. O., Barton, N. W. &lt;strong&gt;Pyridoxine-responsive hyper-beta-alaninemia associated with Cohen&#x27;s syndrome.&lt;/strong&gt; Neurology 44: 1728-1732, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7936305/&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;7936305&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.44.9.1728&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="7936305">Higgins et al. (1994)</a> demonstrated pyridoxine-responsive hyper-beta-alaninemia in a 4-year-old girl with some features of Cohen syndrome. She had crooked teeth, a small philtrum, narrow hands, and global developmental delay. Ophthalmic examination was not reported and there was no mention of obesity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7936305" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#50" class="mim-tip-reference" title="Schlichtemeier, T. L., Tomlinson, G. E., Kamen, B. A., Waber, L. J., Wilson, G. N. &lt;strong&gt;Multiple coagulation defects and the Cohen syndrome.&lt;/strong&gt; Clin. Genet. 45: 212-216, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8062442/&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;8062442&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1994.tb04026.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="8062442">Schlichtemeier et al. (1994)</a> described probable Cohen syndrome in African American brother and sister. The brother, who presented at age 13 years with new-onset seizures, sagittal sinus thrombosis with cerebral hemorrhage, and extensive venous thrombosis of the lower limbs, showed combined deficiency of protein C, protein S, and antithrombin III. Carotid aneurysm and tortuous descending aorta were also present. <a href="#50" class="mim-tip-reference" title="Schlichtemeier, T. L., Tomlinson, G. E., Kamen, B. A., Waber, L. J., Wilson, G. N. &lt;strong&gt;Multiple coagulation defects and the Cohen syndrome.&lt;/strong&gt; Clin. Genet. 45: 212-216, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8062442/&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;8062442&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1994.tb04026.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="8062442">Schlichtemeier et al. (1994)</a> suggested that vasculopathy may be an integral part of the Cohen syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8062442" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#43" class="mim-tip-reference" title="North, K. N., Fulton, A. B., Whiteman, D. A. H. &lt;strong&gt;Identical twins with Cohen syndrome.&lt;/strong&gt; Am. J. Med. Genet. 58: 54-58, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7573157/&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;7573157&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320580112&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="7573157">North et al. (1995)</a> reported the cases of identical female twins with Cohen syndrome. They presented with retinal degeneration, obesity, and mental retardation, and had the characteristic facial appearance. Unusual features of the twins included tall stature, macrocephaly, and transient cardiomyopathy during the first year of life. Precocious puberty was present in both girls; the development of breast buds and axillary hair was noted at the age 7.5 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7573157" 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="Kivitie-Kallio, S., Rajantie, J., Juvonen, E., Norio, R. &lt;strong&gt;Granulocytopenia in Cohen syndrome.&lt;/strong&gt; Brit. J. Haemat. 98: 308-311, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9266925/&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;9266925&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1046/j.1365-2141.1997.2323049.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="9266925">Kivitie-Kallio et al. (1997)</a> reported hematologic data on 26 Finnish patients with Cohen syndrome. All had experienced periods of isolated granulocytopenia from an early age. Granulocytopenia was mild to moderate, noncyclic, and never fatal. Most patients suffered from prolonged or repeated gingival or skin infections. In 16 patients studied in detail, bone marrow examination showed a normo- or hypercellular marrow, with a left-shifted granulopoiesis in 8 of the 16 patients. The response to adrenaline stimulation was subnormal in 12 of 14 and to hydrocortisone in 8 of 16 patients, but administration of recombinant GCSF (<a href="/entry/138970">138970</a>) caused granulocytosis in the 3 patients studied. No bone marrow malignancies were seen. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9266925" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#45" class="mim-tip-reference" title="Olivieri, O., Lombardi, S., Russo, C., Corrocher, R. &lt;strong&gt;Increased neutrophil adhesive capability in Cohen syndrome, an autosomal recessive disorder associated with granulocytopenia.&lt;/strong&gt; Haematologica 83: 778-782, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9825573/&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;9825573&lt;/a&gt;]" pmid="9825573">Olivieri et al. (1998)</a> studied the bone marrow and the functional properties of neutrophils obtained from peripheral blood or skin window exudates from a patient with Cohen syndrome. Neutrophil adhesive capability was greatly increased in this patient. Cytofluorometric expression of CD11B (<a href="/entry/120980">120980</a>) and CD62L molecules were consistent with a generalized neutrophil activation in vivo. The patient was a 22-year-old girl with neutropenia and recurrent gingivitis. A tentative diagnosis of Prader-Willi syndrome had been made in childhood. However, her features, including obesity, hypotonia, microcephaly, chorioretinal dystrophy, high nasal bridge, narrow hands and feet, narrow and high-arched palate, and prominent central incisors, were more consistent with Cohen syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9825573" 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 with Cohen syndrome, <a href="#44" class="mim-tip-reference" title="Okamoto, N., Hatsukawa, Y., Arai, H., Goto, M. &lt;strong&gt;Cohen syndrome with high urinary excretion of hyaluronic acid.&lt;/strong&gt; Am. J. Med. Genet. 76: 387-388, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9556296/&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;9556296&lt;/a&gt;]" pmid="9556296">Okamoto et al. (1998)</a> found a remarkably high level of urinary hyaluronic acid. They pointed out that hyperhyaluronic aciduria is a characteristic finding in Werner syndrome (<a href="/entry/277700">277700</a>) and some other conditions. <a href="#44" class="mim-tip-reference" title="Okamoto, N., Hatsukawa, Y., Arai, H., Goto, M. &lt;strong&gt;Cohen syndrome with high urinary excretion of hyaluronic acid.&lt;/strong&gt; Am. J. Med. Genet. 76: 387-388, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9556296/&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;9556296&lt;/a&gt;]" pmid="9556296">Okamoto et al. (1998)</a> suggested that the basic defect in Cohen syndrome involves a metabolic abnormality in the extracellular matrix. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9556296" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#22" class="mim-tip-reference" title="Kivitie-Kallio, S., Autti, T., Salonen, O., Norio, R. &lt;strong&gt;MRI of the brain in the Cohen syndrome: a relatively large corpus callosum in patients with mental retardation and microcephaly.&lt;/strong&gt; Neuropediatrics 29: 298-301, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10029348/&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;10029348&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1055/s-2007-973581&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="10029348">Kivitie-Kallio et al. (1998)</a> performed MRI on 18 patients with Cohen syndrome and 26 healthy volunteers. The main finding was a relatively enlarged corpus callosum. A relatively enlarged corpus callosum in a microcephalic head and normal signal intensities of the gray and white matters supports a clinical suspicion of Cohen syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10029348" 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="Kivitie-Kallio, S., Eronen, M., Lipsanen-Nyman, M., Marttinen, E., Norio, R. &lt;strong&gt;Cohen syndrome: evaluation of its cardiac, endocrine and radiological features.&lt;/strong&gt; Clin. Genet. 56: 41-50, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10466416/&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;10466416&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1034/j.1399-0004.1999.560106.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="10466416">Kivitie-Kallio et al. (1999)</a> evaluated cardiac, endocrine, and radiologic abnormalities in 22 patients of Finnish descent with Cohen syndrome. No evidence for clinically significant mitral prolapse was found; however, a decreased left ventricular function with advancing age was identified. No significant endocrine abnormalities were found in examination of pituitary, adrenal, and thyroid function. The patients were either of normal height or were moderately short at all ages, often associated with marked kyphosis. Truncal obesity was seen in 4 of the 22 patients. X-rays of the chest, lumbar and thoracic spine, long bones, ankles, and metacarpophalangeal pattern profiles revealed kyphosis, scoliosis, and calcaneo planovalgus as common features. Fingers of these patients were slender but short with a characteristic metacarpophalangeal pattern profile. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10466416" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Horn, D., Krebsova, A., Kunze, J., Reis, A. &lt;strong&gt;Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity.&lt;/strong&gt; Am. J. Med. Genet. 92: 285-292, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10842298/&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;10842298&lt;/a&gt;]" pmid="10842298">Horn et al. (2000)</a> reported 2 brothers and a cousin from a multiply consanguineous kindred of Lebanese descent with a syndrome of microcephaly, progressive postnatal growth deficiency, mental retardation, hypotonia, chorioretinal dystrophy, and myopia. The severity of the condition varied among the affected family members. <a href="#18" class="mim-tip-reference" title="Horn, D., Krebsova, A., Kunze, J., Reis, A. &lt;strong&gt;Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity.&lt;/strong&gt; Am. J. Med. Genet. 92: 285-292, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10842298/&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;10842298&lt;/a&gt;]" pmid="10842298">Horn et al. (2000)</a> suggested that the syndrome they reported, the Cohen syndrome, and the Mirhosseini-Holmes-Walton syndrome may be the same or allelic disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10842298" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#26" class="mim-tip-reference" title="Kivitie-Kallio, S., Summanen, P., Raitta, C., Norio, R. &lt;strong&gt;Ophthalmologic findings in Cohen syndrome: a long-term follow-up.&lt;/strong&gt; Ophthalmology 107: 1737-1745, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10964838/&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;10964838&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0161-6420(00)00279-7&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="10964838">Kivitie-Kallio et al. (2000)</a> reported ophthalmologic findings from 22 Finnish patients with Cohen syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10964838" 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="Hurmerinta, K., Pirinen, S., Kovero, O., Kivitie-Kallio, S. &lt;strong&gt;Craniofacial features in Cohen syndrome: an anthropometric and cephalometric analysis of 14 patients.&lt;/strong&gt; Clin. Genet. 62: 157-164, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12220454/&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;12220454&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1034/j.1399-0004.2002.620209.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="12220454">Hurmerinta et al. (2002)</a> pointed to the fact that Cohen syndrome is relatively common in Finland, where 35 patients had been diagnosed. They obtained anthropometric measurements of the head and face of 22 patients, and cephalometric radiographs of 14 patients. Anthropometric analysis confirmed and quantified the small head size. Width of the upper face was close to normal but width of the lower face was small. The philtrum was shorter than in healthy controls. Measurements from standardized radiographs showed short cranial base dimensions but normal cranial base angles. Most patients had forward-inclined upper incisors and maxillary prognathia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12220454" 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="De Ravel, T. J. L., Dillen, K., Fryns, J. P. &lt;strong&gt;A new association of mental retardation, short stature, unusual face, radio-ulnar synostosis and retinal pigment abnormalities: Cohen syndrome with thrombocytopenia. (Letter)&lt;/strong&gt; Genet. Counsel. 13: 475-476, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12558120/&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;12558120&lt;/a&gt;]" pmid="12558120">De Ravel et al. (2002)</a> reevaluated a brother and sister, the offspring of first cousins, who were originally reported by <a href="#3" class="mim-tip-reference" title="Buntinx, I. M., Lormans, J. A. G., Martin, J. J., Dumon, J. E. &lt;strong&gt;A new association of mental retardation, short stature, unusual face, radio-ulnar synostosis and retinal pigment abnormalities.&lt;/strong&gt; Genet. Counsel. 2: 237-240, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1799423/&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;1799423&lt;/a&gt;]" pmid="1799423">Buntinx et al. (1991)</a> as representing an apparently new syndrome of mental retardation, short stature, unusual face, radioulnar synostosis, and retinal pigment abnormalities. <a href="#7" class="mim-tip-reference" title="De Ravel, T. J. L., Dillen, K., Fryns, J. P. &lt;strong&gt;A new association of mental retardation, short stature, unusual face, radio-ulnar synostosis and retinal pigment abnormalities: Cohen syndrome with thrombocytopenia. (Letter)&lt;/strong&gt; Genet. Counsel. 13: 475-476, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12558120/&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;12558120&lt;/a&gt;]" pmid="12558120">De Ravel et al. (2002)</a> concluded that the 55-year-old brother and 52-year-old sister had Cohen syndrome. Both had neutropenia and the male had persistent fluctuating thrombocytopenia. <a href="#7" class="mim-tip-reference" title="De Ravel, T. J. L., Dillen, K., Fryns, J. P. &lt;strong&gt;A new association of mental retardation, short stature, unusual face, radio-ulnar synostosis and retinal pigment abnormalities: Cohen syndrome with thrombocytopenia. (Letter)&lt;/strong&gt; Genet. Counsel. 13: 475-476, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12558120/&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;12558120&lt;/a&gt;]" pmid="12558120">De Ravel et al. (2002)</a> stated that asymptomatic thrombocytopenia had not previously been reported in Cohen syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1799423+12558120" 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 their series of 33 non-Finnish patients with Cohen syndrome, <a href="#5" class="mim-tip-reference" title="Chandler, K. E., Kidd, A., Al-Gazali, L., Kolehmainen, J., Lehesjoki, A.-E., Black, G. C. M., Clayton-Smith, J. &lt;strong&gt;Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome.&lt;/strong&gt; J. Med. Genet. 40: 233-241, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12676892/&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;12676892&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.40.4.233&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="12676892">Chandler et al. (2003)</a> identified laryngeal abnormalities, including laryngomalacia, laryngeal stenosis, and vocal cord paralysis, as an associated feature. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12676892" 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="Karpf, J., Turk, J., Howlin, P. &lt;strong&gt;Cognitive, language, and adaptive behavior profiles in individuals with a diagnosis of Cohen syndrome.&lt;/strong&gt; Clin. Genet. 65: 327-332, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15025727/&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;15025727&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2004.00229.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="15025727">Karpf et al. (2004)</a> reported findings on cognitive, linguistic, and adaptive profiles in a group of 45 individuals clinically diagnosed with Cohen syndrome at ages varying from 4 to 49 years. Independence levels were generally poor, but socialization skills were relatively less impaired. This particular area of strength was thought to underlie the 'sociable' temperament typically associated with Cohen syndrome. The range of cognitive ability was wider in this study than reported in most previous studies, raising the issue of whether mental retardation should be considered a necessary component of the phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15025727" 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="Kolehmainen, J., Wilkinson, R., Lehesjoki, A.-E., Chandler, K., Kivitie-Kallio, S., Clayton-Smith, J., Traskelin, A.-L., Waris, L., Saarinen, A., Khan, J., Gross-Tsur, V., Traboulsi, E. I., Warburg, M., Fryns, J.-P., Norio, R., Black, G. C. M., Manson, F. D. C. &lt;strong&gt;Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.&lt;/strong&gt; Am. J. Hum. Genet. 75: 122-127, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15141358/&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;15141358&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/422197&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="15141358">Kolehmainen et al. (2004)</a> undertook an extensive molecular assessment of 76 patients from 59 families with a provisional diagnosis of Cohen syndrome and correlated molecular and clinical findings. The patients were assessed for the following 8 clinical criteria: developmental delay, microcephaly, typical Cohen syndrome facial gestalt, truncal obesity with slender extremities, overly sociable behavior, joint hypermobility, high myopia and/or retinal dystrophy, and neutropenia. Patients fulfilling 6 or more criteria were considered likely to have true Cohen syndrome. Those with lower scores (5 of 8 or fewer) were considered provisionally to have a Cohen-like syndrome. <a href="#29" class="mim-tip-reference" title="Kolehmainen, J., Wilkinson, R., Lehesjoki, A.-E., Chandler, K., Kivitie-Kallio, S., Clayton-Smith, J., Traskelin, A.-L., Waris, L., Saarinen, A., Khan, J., Gross-Tsur, V., Traboulsi, E. I., Warburg, M., Fryns, J.-P., Norio, R., Black, G. C. M., Manson, F. D. C. &lt;strong&gt;Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.&lt;/strong&gt; Am. J. Hum. Genet. 75: 122-127, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15141358/&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;15141358&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/422197&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="15141358">Kolehmainen et al. (2004)</a> found 22 different COH1 mutations, of which 19 were novel, in probands identified by these diagnostic criteria. In addition, they identified another 3 novel mutations in patients with incomplete clinical data. By contrast, no COH1 mutations were found in patients with a provisional diagnosis of Cohen syndrome who were labeled 'Cohen-like.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15141358" 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="Falk, M. J., Feiler, H. S., Neilson, D. E., Maxwell, K., Lee, J. V., Segall, S. K., Robin, N. H., Wilhelmsen, K. C., Traskelin, A.-L., Kolehmainen, J., Lehesjoki, A.-E., Wiznitzer, M., Warman, M. L. &lt;strong&gt;Cohen syndrome in the Ohio Amish.&lt;/strong&gt; Am. J. Med. Genet. 128A: 23-28, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15211651/&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;15211651&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30033&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="15211651">Falk et al. (2004)</a> described 8 members of 2 large Amish kindreds who had early-onset pigmentary retinopathy and myopia, global developmental delay and mental retardation, microcephaly, short stature, hypotonia, joint hyperextensibility, small hands and feet, and a friendly disposition. Several of the children had intermittent granulocytopenia. Affected individuals shared a common facial appearance involving mild synophrys, hypertelorism, wide and wave-shaped palpebral fissures, low nasal bridge with a pinched root and bulbous tip, smooth philtrum, thin upper lip, and hypotonic facies. They appeared to grimace when smiling. Although the facial gestalt was considered inconsistent with the diagnosis of Cohen syndrome, sequencing of the COH1 gene revealed compound homozygosity in all affected individuals for both a frameshift (<a href="/entry/607817#0009">607817.0009</a>) and a missense (<a href="/entry/607817#0010">607817.0010</a>) mutation in the COH1 gene. <a href="#9" class="mim-tip-reference" title="Falk, M. J., Feiler, H. S., Neilson, D. E., Maxwell, K., Lee, J. V., Segall, S. K., Robin, N. H., Wilhelmsen, K. C., Traskelin, A.-L., Kolehmainen, J., Lehesjoki, A.-E., Wiznitzer, M., Warman, M. L. &lt;strong&gt;Cohen syndrome in the Ohio Amish.&lt;/strong&gt; Am. J. Med. Genet. 128A: 23-28, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15211651/&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;15211651&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30033&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="15211651">Falk et al. (2004)</a> concluded that facial gestalt is an unreliable indicator of Cohen syndrome between ethnic populations, although it is consistent among affected individuals within a particular ethnic group. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15211651" 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="#54" class="mim-tip-reference" title="Waite, A., Somer, M., O&#x27;Driscoll, M., Millen, K., Manson, F. D. C., Chandler, K. E. &lt;strong&gt;Cerebellar hypoplasia and Cohen syndrome: a confirmed association. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 152A: 2390-2393, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20683995/&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;20683995&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33569&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="20683995">Waite et al. (2010)</a> reported 3 patients, including 2 patients of Pakistani descent from a consanguineous kindred who were distally related, with genetically confirmed Cohen syndrome. All had the typical facial appearance, developmental delay, and ocular anomalies, and all also had cerebellar hypoplasia on brain imaging, which <a href="#54" class="mim-tip-reference" title="Waite, A., Somer, M., O&#x27;Driscoll, M., Millen, K., Manson, F. D. C., Chandler, K. E. &lt;strong&gt;Cerebellar hypoplasia and Cohen syndrome: a confirmed association. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 152A: 2390-2393, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20683995/&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;20683995&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33569&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="20683995">Waite et al. (2010)</a> concluded may be a feature of this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20683995" 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="#47" class="mim-tip-reference" title="Rivera-Brugues, N., Albrecht, B., Wieczorek, D., Schmidt, H., Keller, T., Gohring, I., Ekici, A. B., Tzschach, A., Garshasbi, M., Franke, K., Klopp, N., Wichmann, H.-E., Meitinger, T., Strom, T. M., Hempel, M. &lt;strong&gt;Cohen syndrome diagnosis using whole genome arrays.&lt;/strong&gt; J. Med. Genet. 48: 136-140, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20921020/&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;20921020&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2010.082206&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="20921020">Rivera-Brugues et al. (2011)</a> reported 3 patients with genetically confirmed Cohen syndrome who were younger than 3 years of age. None had neutropenia, and only 1 had mildly increased pigmentation of the retina. Common features included hypotonic facial expression, almond-shaped eyes, prominent nose, short philtrum, delayed psychomotor development, and mental retardation. The authors noted that the facial phenotype and some additional features of the disorder change with time. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20921020" 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>Clinical Variability</em></strong></p><p>
<a href="#16" class="mim-tip-reference" title="Gueneau, L., Duplomb, L., Sarda, P., Hamel, C., Aral, B., El Chehadeh, S., Gigot, N., St-Onge, J., Callier, P., Thevenon, J., Huet, F., Carmignac, V., Droin, N., Faivre, L., Thauvin-Robinet, C. &lt;strong&gt;Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations.&lt;/strong&gt; Am. J. Med. Genet. 164A: 522-527, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24311531/&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;24311531&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.36300&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="24311531">Gueneau et al. (2014)</a> described a 33-year-old woman who had recurrent infections in infancy and childhood and was diagnosed with chronic and intermittent neutropenia. Speech and motor development was normal. At 25 years of age, she had reduced visual fields and retinal abnormalities, and was diagnosed with retinal dystrophy. Upon examination at 33 years of age, she had short stature, borderline microcephaly, and the typical facial gestalt for Cohen syndrome: facial dysmorphism included moderately downslanting palpebral fissures, convex and high nasal bridge, malar hypoplasia, short philtrum, and mild ptosis. She had slender extremities but no joint hypermobility or truncal obesity. In addition, her intellectual development was normal; she had attended high school and had a reported IQ of 100. Funduscopy revealed moderate pigmentary retinopathy with rare bone spicule-shaped pigment deposits in the periphery and macular edema. Electroretinography revealed severely decreased responses in both scotopic and photopic conditions, indicating that both rod and cone photoreceptor responses were impaired. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24311531" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#36" class="mim-tip-reference" title="Megarbane, A., Waked, N., Chouery, E., Moglabey, Y. B., Saliba, N., Mornet, E., Serre, J.-L., Slim, R. &lt;strong&gt;Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers.&lt;/strong&gt; Am. J. Med. Genet. 98: 244-249, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11169562/&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;11169562&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/1096-8628(20010122)98:3&lt;244::aid-ajmg1084&gt;3.0.co;2-w&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="11169562">Megarbane et al. (2001)</a> described a nonconsanguineous Lebanese family in which 2 brothers had a seemingly distinct syndrome comprising microcephaly, primary cutis verticis gyrata, progressive retinitis pigmentosa, cataracts, sensorineural hearing loss, and mental retardation. The brothers were 41 and 53 years of age. In the older brother the scalp features had appeared 10 years earlier. In the younger brother visual problems became obvious at age 12 and the auditory problem at age 30. Night blindness had been noted from age 20. By a genomewide scan in this family, <a href="#35" class="mim-tip-reference" title="Megarbane, A., Slim, R., Nurnberg, G., Ebermann, I., Nurnberg, P., Bolz, H. J. &lt;strong&gt;A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness.&lt;/strong&gt; Europ. J. Hum. Genet. 17: 1076-1079, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19190672/&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;19190672&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19190672[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/ejhg.2008.273&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="19190672">Megarbane et al. (2009)</a> found a region of homozygosity by descent in the region of chromosome 8 containing the VPS13B gene. Sequencing of this gene identified a homozygous mutation (<a href="/entry/607817#0016">607817.0016</a>) in the affected brothers that segregated with the disorder in the family. <a href="#35" class="mim-tip-reference" title="Megarbane, A., Slim, R., Nurnberg, G., Ebermann, I., Nurnberg, P., Bolz, H. J. &lt;strong&gt;A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness.&lt;/strong&gt; Europ. J. Hum. Genet. 17: 1076-1079, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19190672/&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;19190672&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19190672[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/ejhg.2008.273&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="19190672">Megarbane et al. (2009)</a> noted that the features in the brothers were compatible with Cohen syndrome with the additional features of cutis verticis gyrata and sensorineural deafness. They also noted that the hearing loss and cutis verticis gyrata could be caused by mutations in a different gene and locus, but that their linkage data did not support the presence of another causative homozygous locus and no deafness gene or locus had been identified on chromosome 8q. Because cutis verticis gyrata is frequently associated with mental retardation, they suggested that it may be a rare manifestation of Cohen syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19190672+11169562" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Duplomb, L., Duvet, S., Picot, D., Jego, G., El Chehadeh-Djebbar, S., Marle, N., Gigot, N., Aral, B., Carmignac, V., Thevenon, J., Lopez, E., Riviere, J.-B., and 13 others. &lt;strong&gt;Cohen syndrome is associated with major glycosylation defects.&lt;/strong&gt; Hum. Molec. Genet. 23: 2391-2399, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24334764/&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;24334764&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddt630&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="24334764">Duplomb et al. (2014)</a> found that the serum proteins of 11 patients with genetically confirmed Cohen syndrome showed an unusual pattern of glycosylation characterized by a significant accumulation of agalactosylated fucosylated structures, as well as asialylated fucosylated structures, suggesting a defect of N-glycosylation in the Golgi. Glycosylation of the intracellular proteins ICAM1 (<a href="/entry/147840">147840</a>) and LAMP2 (<a href="/entry/309060">309060</a>) also showed an abnormal profile pattern. However, serum transferrin and a alpha-1-antitrypsin (SERPINA1; <a href="/entry/107400">107400</a>) were normal. In vitro knockdown of VPS13B confirmed these glycosylation defects. Patient fibroblasts showed alterations in Golgi morphology, decreased or absent early endosomes, and abnormally enlarged lysosomes, suggesting a crucial role for VPS13B in endosomal-lysosomal trafficking. The findings indicated that Cohen syndrome is associated with major glycosylation defects, which may contribute to the phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24334764" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#24" class="mim-tip-reference" title="Kivitie-Kallio, S., Norio, R. &lt;strong&gt;Cohen syndrome: essential features, natural history, and heterogeneity.&lt;/strong&gt; Am. J. Med. Genet. 102: 125-135, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11477603/&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;11477603&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/1096-8628(20010801)102:2&lt;125::aid-ajmg1439&gt;3.0.co;2-0&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="11477603">Kivitie-Kallio and Norio (2001)</a> reported the results of their nationwide study of 29 patients with Cohen syndrome in Finland. They found the following features to be essential for the diagnosis: nonprogressive psychomotor retardation, motor clumsiness, and microcephaly; typical facial features including high-arched eyelids, short philtrum, thick hair, and low hairline; childhood hypotonia and hyperextensibility of the joints; ophthalmologic findings of retinochoroidal dystrophy and myopia in patients over 5 years of age; and periods of isolated granulocytopenia. They noted a changing phenotype with age. In their patients, psychomotor retardation was profound in 22%, severe in 61%, moderate in 6%, and mild in 11%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11477603" 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>On the basis of a study of 33 non-Finnish patients with Cohen syndrome, <a href="#5" class="mim-tip-reference" title="Chandler, K. E., Kidd, A., Al-Gazali, L., Kolehmainen, J., Lehesjoki, A.-E., Black, G. C. M., Clayton-Smith, J. &lt;strong&gt;Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome.&lt;/strong&gt; J. Med. Genet. 40: 233-241, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12676892/&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;12676892&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.40.4.233&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="12676892">Chandler et al. (2003)</a> contended that the diagnostic criteria suggested by <a href="#24" class="mim-tip-reference" title="Kivitie-Kallio, S., Norio, R. &lt;strong&gt;Cohen syndrome: essential features, natural history, and heterogeneity.&lt;/strong&gt; Am. J. Med. Genet. 102: 125-135, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11477603/&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;11477603&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/1096-8628(20010801)102:2&lt;125::aid-ajmg1439&gt;3.0.co;2-0&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="11477603">Kivitie-Kallio and Norio (2001)</a> are important but not obligatory features. As an aid to diagnosis, they proposed the presence of at least 2 of the following major criteria in a child with significant learning difficulties: (1) facial gestalt, characterized by thick hair, eyebrows and eyelashes, wave-shaped, downward-slanting palpebral fissures, prominent, beak-shaped nose, short, upturned philtrum with grimacing expression on smiling; (2) pigmentary retinopathy; and (3) neutropenia. Less specific but supportive criteria included early-onset, progressive myopia; microcephaly; truncal obesity with slender extremities; and joint hyperextensibility. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12676892+11477603" 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="pathogenesis" class="mim-anchor"></a>
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<strong>Pathogenesis</strong>
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<p><a href="#33" class="mim-tip-reference" title="Limoge, F., Faivre, L., Gautier, T., Petit, J.-M., Gautier, E., Masson, D., Jego, G., El Chehadeh-Djebbar, S., Marle, N., Carmignac, V., Deckert, V., Brindisi, M.-C., Edery, P., Ghoumid, J., Blair, E., Lagrost, L., Thauvin-Robinet, C., Duplomb, L. &lt;strong&gt;Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen syndrome.&lt;/strong&gt; Hum. Molec. Genet. 24: 6603-6613, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26358774/&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;26358774&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddv366&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="26358774">Limoge et al. (2015)</a> characterized the obesity phenotype in 14 patients with COH1 by examining clinical, glucose, and lipid metabolism features. All patients had truncal obesity, despite a normal BMI in most of them. Although triglyceride, total cholesterol, and LDL values were normal in most patients, HDL was abnormally low in 9 of 13 patients. Leptin was elevated in 8 of 11 patients in whom it was measured, 2 of whom were obese by BMI. Blood pressure was elevated (more than 130/85) in 4 of 8 patients. Fasting blood glucose was normal in 12 of 13 patients, but oral glucose tolerance test showed impaired glucose tolerance after 2 hours in 4 of 9 patients tested. <a href="#33" class="mim-tip-reference" title="Limoge, F., Faivre, L., Gautier, T., Petit, J.-M., Gautier, E., Masson, D., Jego, G., El Chehadeh-Djebbar, S., Marle, N., Carmignac, V., Deckert, V., Brindisi, M.-C., Edery, P., Ghoumid, J., Blair, E., Lagrost, L., Thauvin-Robinet, C., Duplomb, L. &lt;strong&gt;Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen syndrome.&lt;/strong&gt; Hum. Molec. Genet. 24: 6603-6613, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26358774/&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;26358774&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddv366&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="26358774">Limoge et al. (2015)</a> also studied primary fibroblasts from COH1 patients as well as SGBS (see <a href="/entry/312870">312870</a>) preadipocytes in which expression of VPS13B was knocked down by RNAi, and observed accelerated differentiation into fat cells. This was confirmed by earlier and increased expression of specific adipogenic genes, consequent to the increased response of the cells to insulin stimulation. At the end of the differentiation protocol, these fat cells exhibited decreased AKT2 (<a href="/entry/164731">164731</a>) phosphorylation after insulin stimulation, suggestive of insulin resistance. <a href="#33" class="mim-tip-reference" title="Limoge, F., Faivre, L., Gautier, T., Petit, J.-M., Gautier, E., Masson, D., Jego, G., El Chehadeh-Djebbar, S., Marle, N., Carmignac, V., Deckert, V., Brindisi, M.-C., Edery, P., Ghoumid, J., Blair, E., Lagrost, L., Thauvin-Robinet, C., Duplomb, L. &lt;strong&gt;Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen syndrome.&lt;/strong&gt; Hum. Molec. Genet. 24: 6603-6613, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26358774/&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;26358774&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddv366&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="26358774">Limoge et al. (2015)</a> concluded that VPS13B is an important regulator of adipogenesis, and that defective VPS13B results in increased fat storage and a risk of type 2 diabetes mellitus in patients with COH1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26358774" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="mapping" class="mim-anchor"></a>
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<strong>Mapping</strong>
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<p>In 2 brothers born of consanguineous parents, <a href="#30" class="mim-tip-reference" title="Kondo, I., Hamabe, J., Yamamoto, K., Niikawa, N. &lt;strong&gt;Exclusion mapping of the Cohen syndrome gene from the Prader-Willi syndrome locus.&lt;/strong&gt; Clin. Genet. 38: 422-426, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1981180/&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;1981180&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1990.tb03607.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="1981180">Kondo et al. (1990)</a> found that Cohen syndrome was not linked to markers in the 15q11-q12 region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1981180" 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="#53" class="mim-tip-reference" title="Tahvanainen, E., Norio, R., Karila, E., Ranta, S., Weissenbach, J., Sistonen, P., de la Chapelle, A. &lt;strong&gt;Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis.&lt;/strong&gt; Nature Genet. 7: 201-204, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7920642/&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;7920642&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0694-201&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="7920642">Tahvanainen et al. (1994)</a> mapped the Cohen syndrome locus, symbolized CHS1 by them, to chromosome 8 in an interval of approximately 10 cM between D8S270 and D8S521. Both of these markers had been assigned to 8q22 (<a href="#56" class="mim-tip-reference" title="Wood, S., Ben Othmane, K., Bergerheim, U. S. R., Blanton, S. H., Bookstein, R., Clarke, R. A., Daiger, S. P., Donis-Keller, H., Drayna, D., Kumar, S., Leach, R. J., Ludecke, H.-J., and 9 others. &lt;strong&gt;Report of the first international workshop on human chromosome 8 mapping.&lt;/strong&gt; Cytogenet. Cell Genet. 64: 134-141, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8404033/&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;8404033&lt;/a&gt;]" pmid="8404033">Wood et al., 1993</a>). Their studies involved four 2-generation Finnish pedigrees showing uniform clinical features in the affected members. All the remaining 9 patients in Finland were isolated cases in their families. Although not of value for linkage studies, they would be fully informative for the analysis of linkage disequilibrium and haplotype associations. In the Finnish population, one might anticipate a single founding chromosome carrying the disease mutation. <a href="#53" class="mim-tip-reference" title="Tahvanainen, E., Norio, R., Karila, E., Ranta, S., Weissenbach, J., Sistonen, P., de la Chapelle, A. &lt;strong&gt;Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis.&lt;/strong&gt; Nature Genet. 7: 201-204, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7920642/&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;7920642&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0694-201&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="7920642">Tahvanainen et al. (1994)</a> suggested that the linkage information may help establish or rule out genetic heterogeneity of Cohen syndrome, including answering the question as to whether the ocular findings and leukopenia indicate a separate entity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8404033+7920642" 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>By linkage disequilibrium analysis, <a href="#28" class="mim-tip-reference" title="Kolehmainen, J., Norio, R., Kivitie-Kallio, S., Tahvanainen, E., de la Chapelle, A., Lehesjoki, A.-E. &lt;strong&gt;Refined mapping of the Cohen syndrome gene by linkage disequilibrium.&lt;/strong&gt; Europ. J. Hum. Genet. 5: 206-213, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9359041/&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;9359041&lt;/a&gt;]" pmid="9359041">Kolehmainen et al. (1997)</a> narrowed the COH1 region to the immediate vicinity of D8S1762. Haplotype analysis suggested the occurrence of 1 main COH1 mutation and possibly 1 or 2 rare ones in Finland. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9359041" 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>By homozygosity mapping in a consanguineous Lebanese kindred, <a href="#18" class="mim-tip-reference" title="Horn, D., Krebsova, A., Kunze, J., Reis, A. &lt;strong&gt;Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity.&lt;/strong&gt; Am. J. Med. Genet. 92: 285-292, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10842298/&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;10842298&lt;/a&gt;]" pmid="10842298">Horn et al. (2000)</a> localized the gene responsible for this condition to a 26.8-cM region on chromosome 8q21.3-q22.1. This region overlapped the refined gene region for Cohen syndrome (<a href="#28" class="mim-tip-reference" title="Kolehmainen, J., Norio, R., Kivitie-Kallio, S., Tahvanainen, E., de la Chapelle, A., Lehesjoki, A.-E. &lt;strong&gt;Refined mapping of the Cohen syndrome gene by linkage disequilibrium.&lt;/strong&gt; Europ. J. Hum. Genet. 5: 206-213, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9359041/&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;9359041&lt;/a&gt;]" pmid="9359041">Kolehmainen et al., 1997</a>). <a href="#18" class="mim-tip-reference" title="Horn, D., Krebsova, A., Kunze, J., Reis, A. &lt;strong&gt;Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity.&lt;/strong&gt; Am. J. Med. Genet. 92: 285-292, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10842298/&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;10842298&lt;/a&gt;]" pmid="10842298">Horn et al. (2000)</a> hypothesized that the syndrome in their family, Cohen syndrome, and Mirhosseini-Holmes-Walton syndrome may be allelic. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9359041+10842298" 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>Segregation analysis in 11 non-Finnish families with Cohen syndrome by <a href="#5" class="mim-tip-reference" title="Chandler, K. E., Kidd, A., Al-Gazali, L., Kolehmainen, J., Lehesjoki, A.-E., Black, G. C. M., Clayton-Smith, J. &lt;strong&gt;Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome.&lt;/strong&gt; J. Med. Genet. 40: 233-241, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12676892/&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;12676892&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.40.4.233&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="12676892">Chandler et al. (2003)</a> was consistent with linkage of the disorder to the COH1 critical region on chromosome 8. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12676892" 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="cytogenetics" class="mim-anchor"></a>
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<strong>Cytogenetics</strong>
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<p><a href="#13" class="mim-tip-reference" title="Fryns, J.-P., Kleczkowska, A., Smeets, E., Thiry, P., Geutjens, J., Van den Berghe, H. &lt;strong&gt;Cohen syndrome and de novo reciprocal translocation t(5;7)(q33.1;p15.1).&lt;/strong&gt; Am. J. Med. Genet. 37: 546-547, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2260606/&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;2260606&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320370425&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="2260606">Fryns et al. (1990)</a> described a 15-year-old girl with features of Cohen syndrome and a de novo, apparently balanced reciprocal translocation t(5q;7p)(q33.1;p15.1). They suggested that the Cohen syndrome may be due to a mutation in a gene located at either 5q33.1 or 7p15.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2260606" 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 transmission pattern of COH1 in the families reported by <a href="#27" class="mim-tip-reference" title="Kolehmainen, J., Black, G. C. M., Saarinen, A., Chandler, K., Clayton-Smith, J., Traskelin, A.-L., Perveen, R., Kivitie-Kallio, S., Norio, R., Warburg, M., Fryns, J.-P., de la Chapelle, A., Lehesjoki, A.-E. &lt;strong&gt;Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.&lt;/strong&gt; Am. J. Hum. Genet. 72: 1359-1369, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12730828/&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;12730828&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=12730828[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/10.1086/375454&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="12730828">Kolehmainen et al. (2003)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12730828" 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>By haplotype analysis, <a href="#27" class="mim-tip-reference" title="Kolehmainen, J., Black, G. C. M., Saarinen, A., Chandler, K., Clayton-Smith, J., Traskelin, A.-L., Perveen, R., Kivitie-Kallio, S., Norio, R., Warburg, M., Fryns, J.-P., de la Chapelle, A., Lehesjoki, A.-E. &lt;strong&gt;Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.&lt;/strong&gt; Am. J. Hum. Genet. 72: 1359-1369, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12730828/&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;12730828&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=12730828[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/10.1086/375454&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="12730828">Kolehmainen et al. (2003)</a> refined the critical Cohen syndrome region on 8q22 and characterized a novel gene, COH1, that is mutated in patients with Cohen syndrome (see <a href="/entry/607817#0001">607817.0001</a>-<a href="/entry/607817#0003">607817.0003</a>). In 1 non-Finnish patient with Cohen syndrome studied by <a href="#27" class="mim-tip-reference" title="Kolehmainen, J., Black, G. C. M., Saarinen, A., Chandler, K., Clayton-Smith, J., Traskelin, A.-L., Perveen, R., Kivitie-Kallio, S., Norio, R., Warburg, M., Fryns, J.-P., de la Chapelle, A., Lehesjoki, A.-E. &lt;strong&gt;Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.&lt;/strong&gt; Am. J. Hum. Genet. 72: 1359-1369, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12730828/&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;12730828&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=12730828[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/10.1086/375454&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="12730828">Kolehmainen et al. (2003)</a>, no mutation was found in the COH1 gene, suggesting genetic heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12730828" 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>By segregation analysis in 11 non-Finnish families with Cohen syndrome, <a href="#5" class="mim-tip-reference" title="Chandler, K. E., Kidd, A., Al-Gazali, L., Kolehmainen, J., Lehesjoki, A.-E., Black, G. C. M., Clayton-Smith, J. &lt;strong&gt;Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome.&lt;/strong&gt; J. Med. Genet. 40: 233-241, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12676892/&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;12676892&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.40.4.233&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="12676892">Chandler et al. (2003)</a> demonstrated allele sharing in affected but not unaffected sibs within the COH1 critical region. Haplotype analysis suggested the presence of allelic heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12676892" 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="#51" class="mim-tip-reference" title="Seifert, W., Holder-Espinasse, M., Spranger, S., Hoeltzenbein, M., Rossier, E., Dollfus, H., Lacombe, D., Verloes, A., Chrzanowska, K. H., Maegawa, G. H. B., Chitayat, D., Kotzot, D., Huhle, D., Meinecke, P., Albrecht, B., Mathijssen, I., Leheup, B., Raile, K., Hennies, H. C., Horn, D. &lt;strong&gt;Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. (Letter)&lt;/strong&gt; J. Med. Genet. 43: e22, 2006. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16648375/&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;16648375&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=16648375[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.2005.039867&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="16648375">Seifert et al. (2006)</a> studied 24 patients with Cohen syndrome from 16 families of varying ethnic backgrounds and identified 25 different mutations in the COH1 gene, including 9 nonsense mutations, 8 frameshift mutations, 4 verified splice site mutations, 3 larger in-frame deletions, and 1 missense mutation. There was marked variability of developmental and growth parameters, although the typical facial gestalt was seen in 23 of 24 patients. Early-onset progressive myopia was present in all the patients older than 5 years, with widespread pigmentary retinopathy seen in 12 of 14 patients assessed who were over 5 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16648375" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="Katzaki, E., Pescucci, C., Uliana, V., Papa, F. T., Ariani, F., Meloni, I., Priolo, M., Selicorni, A., Milani, D., Fischetto, R., Celle, M. E., Grasso, R., Dallapiccola, B., Brancati, F., Bordignon, M., Tenconi, R., Federico, A., Mari, F., Renieri, A., Longo, I. &lt;strong&gt;Clinical and molecular characterization of Italian patients affected by Cohen syndrome.&lt;/strong&gt; J. Hum. Genet. 52: 1011-1017, 2007. Note: Erratum: J. Hum. Genet. 53: 285 only, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17990063/&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;17990063&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10038-007-0208-4&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="17990063">Katzaki et al. (2007)</a> identified pathogenic mutations in the COH1 gene in 10 Italian patients with Cohen syndrome from 9 families. All patients had characteristic features of the disorder, although with greater variability than reported for Finnish patients. Heterozygous partial COH1 gene deletions were identified in 2 different families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17990063" 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 14 individuals with Cohen syndrome from an isolated population on 2 small adjacent islands in the eastern part of the Greek archipelago, <a href="#2" class="mim-tip-reference" title="Bugiani, M., Gyftodimou, Y., Tsimpouka, P., Lamantea, E., Katzaki, E., d&#x27;Adamo, P., Nakou, S., Georgoudi, N., Grigoriadou, M., Tsina, E., Kabolis, N., Milani, D., Pandelia, E., Kokotas, H., Gasparini, P., Giannoulia-Karantana, A., Renieri, A., Zeviani, M., Petersen, M. B. &lt;strong&gt;Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population.&lt;/strong&gt; Am. J. Med. Genet. 146A: 2221-2226, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18655112/&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;18655112&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32239&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="18655112">Bugiani et al. (2008)</a> identified a large homozygous deletion of exon 6 through 16 in the VPS13B gene (<a href="/entry/607817#0011">607817.0011</a>). Twelve of the patients belonged to a large consanguineous kindred. The phenotype was relatively homogeneous, with common features including moderate to severe mental retardation, slender extremities with narrow hands and feet, joint hypermobility, and the typical facial gestalt. Microcephaly was not as profound as reported in Finnish patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18655112" 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="#46" class="mim-tip-reference" title="Parri, V., Katzaki, E., Uliana, V., Scionti, F., Tita, R., Artuso, R., Longo, I., Boschloo, R., Vijzelaar, R., Selecorni, A., Brancati, F., Dallapiccola, B., and 15 others. &lt;strong&gt;High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.&lt;/strong&gt; Europ. J. Hum. Genet. 18: 1133-1140, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20461111/&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;20461111&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=20461111[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/ejhg.2010.59&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="20461111">Parri et al. (2010)</a> used multiplex ligation-dependent probe amplification (MLPA) to analyze the VPS13B gene in 14 patients with Cohen syndrome from 11 families, including 4 patients from 3 families previously studied by <a href="#21" class="mim-tip-reference" title="Katzaki, E., Pescucci, C., Uliana, V., Papa, F. T., Ariani, F., Meloni, I., Priolo, M., Selicorni, A., Milani, D., Fischetto, R., Celle, M. E., Grasso, R., Dallapiccola, B., Brancati, F., Bordignon, M., Tenconi, R., Federico, A., Mari, F., Renieri, A., Longo, I. &lt;strong&gt;Clinical and molecular characterization of Italian patients affected by Cohen syndrome.&lt;/strong&gt; J. Hum. Genet. 52: 1011-1017, 2007. Note: Erratum: J. Hum. Genet. 53: 285 only, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17990063/&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;17990063&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s10038-007-0208-4&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="17990063">Katzaki et al. (2007)</a>. All 14 patients displayed the typical Cohen facial gestalt, narrow extremities, and truncal adiposity, and microcephaly was present in 9 of the 14 patients. <a href="#46" class="mim-tip-reference" title="Parri, V., Katzaki, E., Uliana, V., Scionti, F., Tita, R., Artuso, R., Longo, I., Boschloo, R., Vijzelaar, R., Selecorni, A., Brancati, F., Dallapiccola, B., and 15 others. &lt;strong&gt;High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.&lt;/strong&gt; Europ. J. Hum. Genet. 18: 1133-1140, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20461111/&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;20461111&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=20461111[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/ejhg.2010.59&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="20461111">Parri et al. (2010)</a> detected 12 different mutations, including 6 frameshift, 3 splice site, and 2 nonsense mutations, as well as 1 complex rearrangement. Four patients from 3 Italian families carried the same large deletion of exon 6 through 16 previously identified in Greek patients by <a href="#2" class="mim-tip-reference" title="Bugiani, M., Gyftodimou, Y., Tsimpouka, P., Lamantea, E., Katzaki, E., d&#x27;Adamo, P., Nakou, S., Georgoudi, N., Grigoriadou, M., Tsina, E., Kabolis, N., Milani, D., Pandelia, E., Kokotas, H., Gasparini, P., Giannoulia-Karantana, A., Renieri, A., Zeviani, M., Petersen, M. B. &lt;strong&gt;Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population.&lt;/strong&gt; Am. J. Med. Genet. 146A: 2221-2226, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18655112/&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;18655112&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32239&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="18655112">Bugiani et al. (2008)</a>. Haplotype analysis of 1 of the Greek patients as well as the 4 Italian patients suggested that the recurrent deletion is due to an ancestral founder effect in the Mediterranean area. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20461111+18655112+17990063" 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>Using high-density oligonucleotide array data to analyze copy number variation (CNV), <a href="#47" class="mim-tip-reference" title="Rivera-Brugues, N., Albrecht, B., Wieczorek, D., Schmidt, H., Keller, T., Gohring, I., Ekici, A. B., Tzschach, A., Garshasbi, M., Franke, K., Klopp, N., Wichmann, H.-E., Meitinger, T., Strom, T. M., Hempel, M. &lt;strong&gt;Cohen syndrome diagnosis using whole genome arrays.&lt;/strong&gt; J. Med. Genet. 48: 136-140, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20921020/&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;20921020&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2010.082206&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="20921020">Rivera-Brugues et al. (2011)</a> found that 3 of 1,523 patients with unexplained mental retardation had intragenic heterozygous deletions in the COH1 gene. Subsequent sequencing of the COH1 gene revealed point mutations in the second allele in all 3 patients. No CNVs involving the COH1 gene were found in 1,612 controls. The report was an example of how microarrays can be used to identify autosomal recessive syndromes and to extend the phenotypic and mutational spectrum of recessive disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20921020" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 33-year-old woman who exhibited the typical facial gestalt of Cohen syndrome and had neutropenia and retinopathy, but who did not display truncal obesity or mental retardation, <a href="#16" class="mim-tip-reference" title="Gueneau, L., Duplomb, L., Sarda, P., Hamel, C., Aral, B., El Chehadeh, S., Gigot, N., St-Onge, J., Callier, P., Thevenon, J., Huet, F., Carmignac, V., Droin, N., Faivre, L., Thauvin-Robinet, C. &lt;strong&gt;Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations.&lt;/strong&gt; Am. J. Med. Genet. 164A: 522-527, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24311531/&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;24311531&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.36300&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="24311531">Gueneau et al. (2014)</a> identified compound heterozygosity for 2 splice site mutations in the VPS13B gene (<a href="/entry/607817#0014">607817.0014</a>; <a href="/entry/607817#0015">607817.0015</a>). The authors suggested that a dosage effect of residual normal VPS13B protein might explain the incomplete phenotype in this patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24311531" 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="nomenclature" class="mim-anchor"></a>
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<strong>Nomenclature</strong>
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<p>The preferred symbol for Cohen syndrome is COH1 because the symbol CHS1 had already been established for Chediak-Higashi syndrome (<a href="/entry/214500">214500</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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<strong>REFERENCES</strong>
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<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<a id="1" class="mim-anchor"></a>
<a id="Balestrazzi1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Balestrazzi, P., Corrini, L., Villani, G., Bolla, M. P., Casa, F., Bernasconi, S.
<strong>The Cohen syndrome: clinical and endocrinological studies of two new cases.</strong>
J. Med. Genet. 17: 430-432, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6782211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6782211</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6782211" 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.17.6.430" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
<a id="Bugiani2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bugiani, M., Gyftodimou, Y., Tsimpouka, P., Lamantea, E., Katzaki, E., d'Adamo, P., Nakou, S., Georgoudi, N., Grigoriadou, M., Tsina, E., Kabolis, N., Milani, D., Pandelia, E., Kokotas, H., Gasparini, P., Giannoulia-Karantana, A., Renieri, A., Zeviani, M., Petersen, M. B.
<strong>Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population.</strong>
Am. J. Med. Genet. 146A: 2221-2226, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18655112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18655112</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18655112" 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.32239" target="_blank">Full Text</a>]
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<a id="Buntinx1991" class="mim-anchor"></a>
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<p class="mim-text-font">
Buntinx, I. M., Lormans, J. A. G., Martin, J. J., Dumon, J. E.
<strong>A new association of mental retardation, short stature, unusual face, radio-ulnar synostosis and retinal pigment abnormalities.</strong>
Genet. Counsel. 2: 237-240, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1799423/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1799423</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1799423" 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="4" class="mim-anchor"></a>
<a id="Carey1978" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Carey, J. C., Hall, B. D.
<strong>Confirmation of the Cohen syndrome.</strong>
J. Pediat. 93: 239-244, 1978.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/671157/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">671157</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=671157" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0022-3476(78)80504-6" target="_blank">Full Text</a>]
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<a id="Chandler2003" class="mim-anchor"></a>
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<p class="mim-text-font">
Chandler, K. E., Kidd, A., Al-Gazali, L., Kolehmainen, J., Lehesjoki, A.-E., Black, G. C. M., Clayton-Smith, J.
<strong>Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome.</strong>
J. Med. Genet. 40: 233-241, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12676892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12676892</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12676892" 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.40.4.233" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
<a id="Cohen1973" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Cohen, M. M., Jr., Hall, B. D., Smith, D. W., Graham, C. B., Lampert, K. J.
<strong>A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular and limb anomalies.</strong>
J. Pediat. 83: 280-284, 1973.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4717588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4717588</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4717588" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0022-3476(73)80493-7" target="_blank">Full Text</a>]
</p>
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<a id="7" class="mim-anchor"></a>
<a id="De Ravel2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
De Ravel, T. J. L., Dillen, K., Fryns, J. P.
<strong>A new association of mental retardation, short stature, unusual face, radio-ulnar synostosis and retinal pigment abnormalities: Cohen syndrome with thrombocytopenia. (Letter)</strong>
Genet. Counsel. 13: 475-476, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12558120/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12558120</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12558120" 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="8" class="mim-anchor"></a>
<a id="Duplomb2014" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Duplomb, L., Duvet, S., Picot, D., Jego, G., El Chehadeh-Djebbar, S., Marle, N., Gigot, N., Aral, B., Carmignac, V., Thevenon, J., Lopez, E., Riviere, J.-B., and 13 others.
<strong>Cohen syndrome is associated with major glycosylation defects.</strong>
Hum. Molec. Genet. 23: 2391-2399, 2014.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24334764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24334764</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24334764" 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/ddt630" target="_blank">Full Text</a>]
</p>
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<a id="9" class="mim-anchor"></a>
<a id="Falk2004" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Falk, M. J., Feiler, H. S., Neilson, D. E., Maxwell, K., Lee, J. V., Segall, S. K., Robin, N. H., Wilhelmsen, K. C., Traskelin, A.-L., Kolehmainen, J., Lehesjoki, A.-E., Wiznitzer, M., Warman, M. L.
<strong>Cohen syndrome in the Ohio Amish.</strong>
Am. J. Med. Genet. 128A: 23-28, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15211651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15211651</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15211651" 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.30033" target="_blank">Full Text</a>]
</p>
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<a id="10" class="mim-anchor"></a>
<a id="Fraccaro1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fraccaro, M., Zuffardi, O., Buhler, E., Schinzel, A., Simoni, G., Witkowski, R., Bonifaci, E., Caufin, D., Cignacco, G., Delendi, N., Gargantini, L., Losanowa, T., Marca, L., Ullrich, E., Vigi, V.
<strong>Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome: analysis of seven cases after varying ascertainment.</strong>
Hum. Genet. 64: 388-394, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6618490/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6618490</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6618490" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00292373" target="_blank">Full Text</a>]
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<a id="11" class="mim-anchor"></a>
<a id="Friedman1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Friedman, E., Sack, J.
<strong>The Cohen syndrome: report of five new cases and a review of the literature.</strong>
J. Craniofac. Genet. Dev. Biol. 2: 193-200, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7166592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7166592</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7166592" 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="12" class="mim-anchor"></a>
<a id="Fryns1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fryns, J. P., Lemmens, F., van den Berghe, H.
<strong>Cohen syndrome: fertility in a female patient.</strong>
Clin. Genet. 40: 461-464, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1778007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1778007</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1778007" 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.1399-0004.1991.tb03118.x" target="_blank">Full Text</a>]
</p>
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<a id="13" class="mim-anchor"></a>
<a id="Fryns1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fryns, J.-P., Kleczkowska, A., Smeets, E., Thiry, P., Geutjens, J., Van den Berghe, H.
<strong>Cohen syndrome and de novo reciprocal translocation t(5;7)(q33.1;p15.1).</strong>
Am. J. Med. Genet. 37: 546-547, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2260606/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2260606</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2260606" 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.1320370425" target="_blank">Full Text</a>]
</p>
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<a id="14" class="mim-anchor"></a>
<a id="Fuhrmann-Rieger1984" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fuhrmann-Rieger, A., Kohler, A., Fuhrmann, W.
<strong>Duplication or insertion in 15q11-13 associated with mental retardation--short stature and obesity--Prader-Willi or Cohen syndrome?</strong>
Clin. Genet. 25: 347-352, 1984.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6713711/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6713711</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6713711" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1984.tb02002.x" target="_blank">Full Text</a>]
</p>
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<a id="15" class="mim-anchor"></a>
<a id="Goecke1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Goecke, T., Majewski, F., Kauther, K. D., Sterzel, U.
<strong>Mental retardation, hypotonia, obesity, ocular, facial, dental, and limb abnormalities (Cohen syndrome); report of three patients.</strong>
Europ. J. Pediat. 138: 338-340, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7128643/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7128643</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7128643" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00442512" target="_blank">Full Text</a>]
</p>
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<a id="16" class="mim-anchor"></a>
<a id="Gueneau2014" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gueneau, L., Duplomb, L., Sarda, P., Hamel, C., Aral, B., El Chehadeh, S., Gigot, N., St-Onge, J., Callier, P., Thevenon, J., Huet, F., Carmignac, V., Droin, N., Faivre, L., Thauvin-Robinet, C.
<strong>Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations.</strong>
Am. J. Med. Genet. 164A: 522-527, 2014.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24311531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24311531</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24311531" 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.36300" target="_blank">Full Text</a>]
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Higgins, J. J., Kaneski, C. R., Bernardini, I., Brady, R. O., Barton, N. W.
<strong>Pyridoxine-responsive hyper-beta-alaninemia associated with Cohen's syndrome.</strong>
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[<a href="https://doi.org/10.1212/wnl.44.9.1728" target="_blank">Full Text</a>]
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Horn, D., Krebsova, A., Kunze, J., Reis, A.
<strong>Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity.</strong>
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<a id="Hurmerinta2002" class="mim-anchor"></a>
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<strong>Craniofacial features in Cohen syndrome: an anthropometric and cephalometric analysis of 14 patients.</strong>
Clin. Genet. 62: 157-164, 2002.
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[<a href="https://doi.org/10.1034/j.1399-0004.2002.620209.x" target="_blank">Full Text</a>]
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<strong>Cognitive, language, and adaptive behavior profiles in individuals with a diagnosis of Cohen syndrome.</strong>
Clin. Genet. 65: 327-332, 2004.
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[<a href="https://doi.org/10.1111/j.1399-0004.2004.00229.x" target="_blank">Full Text</a>]
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Katzaki, E., Pescucci, C., Uliana, V., Papa, F. T., Ariani, F., Meloni, I., Priolo, M., Selicorni, A., Milani, D., Fischetto, R., Celle, M. E., Grasso, R., Dallapiccola, B., Brancati, F., Bordignon, M., Tenconi, R., Federico, A., Mari, F., Renieri, A., Longo, I.
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[<a href="https://doi.org/10.1007/s10038-007-0208-4" target="_blank">Full Text</a>]
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Kivitie-Kallio, S., Autti, T., Salonen, O., Norio, R.
<strong>MRI of the brain in the Cohen syndrome: a relatively large corpus callosum in patients with mental retardation and microcephaly.</strong>
Neuropediatrics 29: 298-301, 1998.
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[<a href="https://doi.org/10.1055/s-2007-973581" target="_blank">Full Text</a>]
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<strong>Cohen syndrome: evaluation of its cardiac, endocrine and radiological features.</strong>
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[<a href="https://doi.org/10.1034/j.1399-0004.1999.560106.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/1096-8628(20010801)102:2&lt;125::aid-ajmg1439&gt;3.0.co;2-0" target="_blank">Full Text</a>]
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Kivitie-Kallio, S., Rajantie, J., Juvonen, E., Norio, R.
<strong>Granulocytopenia in Cohen syndrome.</strong>
Brit. J. Haemat. 98: 308-311, 1997.
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[<a href="https://doi.org/10.1046/j.1365-2141.1997.2323049.x" target="_blank">Full Text</a>]
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Kivitie-Kallio, S., Summanen, P., Raitta, C., Norio, R.
<strong>Ophthalmologic findings in Cohen syndrome: a long-term follow-up.</strong>
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[<a href="https://doi.org/10.1016/s0161-6420(00)00279-7" target="_blank">Full Text</a>]
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<p class="mim-text-font">
Kolehmainen, J., Black, G. C. M., Saarinen, A., Chandler, K., Clayton-Smith, J., Traskelin, A.-L., Perveen, R., Kivitie-Kallio, S., Norio, R., Warburg, M., Fryns, J.-P., de la Chapelle, A., Lehesjoki, A.-E.
<strong>Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.</strong>
Am. J. Hum. Genet. 72: 1359-1369, 2003.
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[<a href="https://doi.org/10.1086/375454" target="_blank">Full Text</a>]
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Kolehmainen, J., Norio, R., Kivitie-Kallio, S., Tahvanainen, E., de la Chapelle, A., Lehesjoki, A.-E.
<strong>Refined mapping of the Cohen syndrome gene by linkage disequilibrium.</strong>
Europ. J. Hum. Genet. 5: 206-213, 1997.
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<p class="mim-text-font">
Kolehmainen, J., Wilkinson, R., Lehesjoki, A.-E., Chandler, K., Kivitie-Kallio, S., Clayton-Smith, J., Traskelin, A.-L., Waris, L., Saarinen, A., Khan, J., Gross-Tsur, V., Traboulsi, E. I., Warburg, M., Fryns, J.-P., Norio, R., Black, G. C. M., Manson, F. D. C.
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[<a href="https://doi.org/10.1086/422197" target="_blank">Full Text</a>]
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Kondo, I., Hamabe, J., Yamamoto, K., Niikawa, N.
<strong>Exclusion mapping of the Cohen syndrome gene from the Prader-Willi syndrome locus.</strong>
Clin. Genet. 38: 422-426, 1990.
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[<a href="https://doi.org/10.1111/j.1399-0004.1990.tb03607.x" target="_blank">Full Text</a>]
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Kondo, I., Nagataki, S., Miyagi, N.
<strong>The Cohen syndrome: does mottled retina separate a Finnish and a Jewish type?</strong>
Am. J. Med. Genet. 37: 109-113, 1990.
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[<a href="https://doi.org/10.1002/ajmg.1320370126" target="_blank">Full Text</a>]
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Kousseff, B. G.
<strong>Cohen syndrome: further delineation and inheritance.</strong>
Am. J. Med. Genet. 9: 25-30, 1981.
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[<a href="https://doi.org/10.1002/ajmg.1320090106" target="_blank">Full Text</a>]
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Limoge, F., Faivre, L., Gautier, T., Petit, J.-M., Gautier, E., Masson, D., Jego, G., El Chehadeh-Djebbar, S., Marle, N., Carmignac, V., Deckert, V., Brindisi, M.-C., Edery, P., Ghoumid, J., Blair, E., Lagrost, L., Thauvin-Robinet, C., Duplomb, L.
<strong>Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen syndrome.</strong>
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[<a href="https://doi.org/10.1093/hmg/ddv366" target="_blank">Full Text</a>]
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Massa, G., Dooms, L., Vanderschueren-Lodeweyckx, M.
<strong>Growth hormone deficiency in a girl with the Cohen syndrome.</strong>
J. Med. Genet. 28: 48-50, 1991.
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[<a href="https://doi.org/10.1136/jmg.28.1.48" target="_blank">Full Text</a>]
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Megarbane, A., Slim, R., Nurnberg, G., Ebermann, I., Nurnberg, P., Bolz, H. J.
<strong>A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness.</strong>
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[<a href="https://doi.org/10.1038/ejhg.2008.273" target="_blank">Full Text</a>]
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<p class="mim-text-font">
Megarbane, A., Waked, N., Chouery, E., Moglabey, Y. B., Saliba, N., Mornet, E., Serre, J.-L., Slim, R.
<strong>Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers.</strong>
Am. J. Med. Genet. 98: 244-249, 2001.
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[<a href="https://doi.org/10.1002/1096-8628(20010122)98:3&lt;244::aid-ajmg1084&gt;3.0.co;2-w" target="_blank">Full Text</a>]
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<strong>Cohen syndrome: a connective tissue disorder?</strong>
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[<a href="https://doi.org/10.1002/ajmg.1320310115" target="_blank">Full Text</a>]
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Norio, R., Raitta, C., Lindahl, E.
<strong>Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity.</strong>
Clin. Genet. 25: 1-14, 1984.
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[<a href="https://doi.org/10.1111/j.1399-0004.1984.tb00456.x" target="_blank">Full Text</a>]
</p>
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<li>
<a id="39" class="mim-anchor"></a>
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<div class="">
<p class="mim-text-font">
Norio, R., Raitta, C.
<strong>Are the Mirhosseini-Holmes-Walton syndrome and the Cohen syndrome identical?</strong>
Am. J. Med. Genet. 25: 397-398, 1986.
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[<a href="https://doi.org/10.1002/ajmg.1320250227" target="_blank">Full Text</a>]
</p>
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<a id="40" class="mim-anchor"></a>
<a id="Norio1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Norio, R.
<strong>Personal Communication.</strong>
Helsinki, Finland 5/29/1993.
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<a id="Norio2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Norio, R.
<strong>The Finnish disease heritage. I. Characteristics, causes, background.</strong>
Hum. Genet. 112: 441-456, 2003.
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[<a href="https://doi.org/10.1007/s00439-002-0875-3" target="_blank">Full Text</a>]
</p>
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<a id="42" class="mim-anchor"></a>
<a id="North1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
North, C., Patton, M. A., Baraitser, M., Winter, R. M.
<strong>The clinical features of the Cohen syndrome: further case reports.</strong>
J. Med. Genet. 22: 131-134, 1985.
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[<a href="https://doi.org/10.1136/jmg.22.2.131" target="_blank">Full Text</a>]
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<a id="43" class="mim-anchor"></a>
<a id="North1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
North, K. N., Fulton, A. B., Whiteman, D. A. H.
<strong>Identical twins with Cohen syndrome.</strong>
Am. J. Med. Genet. 58: 54-58, 1995.
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[<a href="https://doi.org/10.1002/ajmg.1320580112" target="_blank">Full Text</a>]
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<a id="44" class="mim-anchor"></a>
<a id="Okamoto1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Okamoto, N., Hatsukawa, Y., Arai, H., Goto, M.
<strong>Cohen syndrome with high urinary excretion of hyaluronic acid.</strong>
Am. J. Med. Genet. 76: 387-388, 1998.
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<a id="45" class="mim-anchor"></a>
<a id="Olivieri1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Olivieri, O., Lombardi, S., Russo, C., Corrocher, R.
<strong>Increased neutrophil adhesive capability in Cohen syndrome, an autosomal recessive disorder associated with granulocytopenia.</strong>
Haematologica 83: 778-782, 1998.
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<a id="46" class="mim-anchor"></a>
<a id="Parri2010" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Parri, V., Katzaki, E., Uliana, V., Scionti, F., Tita, R., Artuso, R., Longo, I., Boschloo, R., Vijzelaar, R., Selecorni, A., Brancati, F., Dallapiccola, B., and 15 others.
<strong>High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.</strong>
Europ. J. Hum. Genet. 18: 1133-1140, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20461111/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20461111</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20461111[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=20461111" 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/ejhg.2010.59" target="_blank">Full Text</a>]
</p>
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<a id="47" class="mim-anchor"></a>
<a id="Rivera-Brugues2011" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Rivera-Brugues, N., Albrecht, B., Wieczorek, D., Schmidt, H., Keller, T., Gohring, I., Ekici, A. B., Tzschach, A., Garshasbi, M., Franke, K., Klopp, N., Wichmann, H.-E., Meitinger, T., Strom, T. M., Hempel, M.
<strong>Cohen syndrome diagnosis using whole genome arrays.</strong>
J. Med. Genet. 48: 136-140, 2011.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20921020/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20921020</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20921020" 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.2010.082206" target="_blank">Full Text</a>]
</p>
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<a id="48" class="mim-anchor"></a>
<a id="Sack1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sack, J., Friedman, E.
<strong>Cardiac involvement in the Cohen syndrome: a case report.</strong>
Clin. Genet. 17: 317-319, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7438489/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7438489</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7438489" 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.1399-0004.1980.tb00156.x" target="_blank">Full Text</a>]
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<a id="49" class="mim-anchor"></a>
<a id="Sack1986" class="mim-anchor"></a>
<div class="">
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Sack, J., Friedman, E.
<strong>The Cohen syndrome in Israel.</strong>
Israel J. Med. Sci. 22: 766-770, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2432032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2432032</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2432032" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="50" class="mim-anchor"></a>
<a id="Schlichtemeier1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Schlichtemeier, T. L., Tomlinson, G. E., Kamen, B. A., Waber, L. J., Wilson, G. N.
<strong>Multiple coagulation defects and the Cohen syndrome.</strong>
Clin. Genet. 45: 212-216, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8062442/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8062442</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8062442" 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.1399-0004.1994.tb04026.x" target="_blank">Full Text</a>]
</p>
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<a id="51" class="mim-anchor"></a>
<a id="Seifert2006" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Seifert, W., Holder-Espinasse, M., Spranger, S., Hoeltzenbein, M., Rossier, E., Dollfus, H., Lacombe, D., Verloes, A., Chrzanowska, K. H., Maegawa, G. H. B., Chitayat, D., Kotzot, D., Huhle, D., Meinecke, P., Albrecht, B., Mathijssen, I., Leheup, B., Raile, K., Hennies, H. C., Horn, D.
<strong>Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. (Letter)</strong>
J. Med. Genet. 43: e22, 2006. Note: Electronic Article.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16648375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16648375</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16648375[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=16648375" 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.2005.039867" target="_blank">Full Text</a>]
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<a id="52" class="mim-anchor"></a>
<a id="Steinlein1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Steinlein, O., Tariverdian, G., Boll, H. U., Vogel, F.
<strong>Tapetoretinal degeneration in brothers with apparent Cohen syndrome: nosology with Mirhosseini-Holmes-Walton syndrome.</strong>
Am. J. Med. Genet. 41: 196-200, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1785634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1785634</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1785634" 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.1320410213" target="_blank">Full Text</a>]
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<a id="53" class="mim-anchor"></a>
<a id="Tahvanainen1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Tahvanainen, E., Norio, R., Karila, E., Ranta, S., Weissenbach, J., Sistonen, P., de la Chapelle, A.
<strong>Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis.</strong>
Nature Genet. 7: 201-204, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7920642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7920642</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7920642" 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/ng0694-201" target="_blank">Full Text</a>]
</p>
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<a id="54" class="mim-anchor"></a>
<a id="Waite2010" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Waite, A., Somer, M., O'Driscoll, M., Millen, K., Manson, F. D. C., Chandler, K. E.
<strong>Cerebellar hypoplasia and Cohen syndrome: a confirmed association. (Letter)</strong>
Am. J. Med. Genet. 152A: 2390-2393, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20683995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20683995</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20683995" 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.33569" target="_blank">Full Text</a>]
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<a id="55" class="mim-anchor"></a>
<a id="Warburg1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Warburg, M., Pedersen, S. A., Horlyk, H.
<strong>The Cohen syndrome: retinal lesions and granulocytopenia.</strong>
Ophthalmic Paediat. Genet. 11: 7-13, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2348983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2348983</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2348983" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.3109/13816819009012943" target="_blank">Full Text</a>]
</p>
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<a id="56" class="mim-anchor"></a>
<a id="Wood1993" class="mim-anchor"></a>
<div class="">
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Wood, S., Ben Othmane, K., Bergerheim, U. S. R., Blanton, S. H., Bookstein, R., Clarke, R. A., Daiger, S. P., Donis-Keller, H., Drayna, D., Kumar, S., Leach, R. J., Ludecke, H.-J., and 9 others.
<strong>Report of the first international workshop on human chromosome 8 mapping.</strong>
Cytogenet. Cell Genet. 64: 134-141, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8404033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8404033</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8404033" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<li>
<a id="57" class="mim-anchor"></a>
<a id="Young1987" class="mim-anchor"></a>
<div class="">
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Young, I. D., Moore, J. R.
<strong>Intrafamilial variation in Cohen syndrome.</strong>
J. Med. Genet. 24: 488-492, 1987.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3656371/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3656371</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3656371" 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.24.8.488" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 04/11/2016
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Cassandra L. Kniffin - updated : 8/6/2015<br>Carol A. Bocchini - updated : 3/27/2015<br>Marla J. F. O'Neill - updated : 5/30/2014<br>Cassandra L. Kniffin - updated : 6/15/2011<br>Cassandra L. Kniffin - updated : 2/23/2011<br>Marla J. F. O'Neill - updated : 11/9/2010<br>Cassandra L. Kniffin - updated : 12/8/2008<br>Cassandra L. Kniffin - updated : 5/5/2008<br>Marla J. F. O'Neill - updated : 9/14/2006<br>Marla J. F. O'Neill - updated : 7/21/2004<br>Victor A. McKusick - updated : 6/30/2004<br>Victor A. McKusick - updated : 4/22/2004<br>Marla J. F. O'Neill - updated : 1/12/2004<br>Cassandra L. Kniffin - reorganized : 5/22/2003<br>Victor A. McKusick - updated : 5/21/2003<br>Victor A. McKusick - updated : 3/3/2003<br>Victor A. McKusick - updated : 11/25/2002<br>Sonja A. Rasmussen - updated : 8/23/2001<br>Sonja A. Rasmussen - updated : 7/17/2000<br>Victor A. McKusick - updated : 9/8/1999<br>Victor A. McKusick - updated : 8/30/1999<br>Victor A. McKusick - updated : 6/2/1999<br>Victor A. McKusick - updated : 2/27/1999<br>Victor A. McKusick - updated : 4/20/1998<br>Victor A. McKusick - updated : 10/30/1997<br>Victor A. McKusick - updated : 10/10/1997
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Victor A. McKusick : 6/3/1986
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alopez : 11/14/2023<br>carol : 08/08/2023<br>carol : 03/18/2020<br>carol : 01/02/2020<br>carol : 04/11/2016<br>alopez : 8/12/2015<br>mcolton : 8/11/2015<br>ckniffin : 8/6/2015<br>carol : 3/27/2015<br>carol : 6/2/2014<br>mcolton : 5/30/2014<br>terry : 12/20/2012<br>wwang : 6/30/2011<br>ckniffin : 6/15/2011<br>wwang : 2/24/2011<br>ckniffin : 2/23/2011<br>terry : 12/8/2010<br>wwang : 11/16/2010<br>terry : 11/9/2010<br>terry : 10/13/2010<br>carol : 8/30/2010<br>wwang : 1/7/2009<br>ckniffin : 12/8/2008<br>wwang : 5/14/2008<br>ckniffin : 5/5/2008<br>terry : 11/15/2006<br>wwang : 9/15/2006<br>terry : 9/14/2006<br>terry : 4/18/2005<br>tkritzer : 7/23/2004<br>tkritzer : 7/23/2004<br>terry : 7/21/2004<br>alopez : 7/19/2004<br>terry : 6/30/2004<br>tkritzer : 4/23/2004<br>terry : 4/22/2004<br>carol : 1/12/2004<br>carol : 1/12/2004<br>carol : 5/22/2003<br>ckniffin : 5/22/2003<br>ckniffin : 5/22/2003<br>carol : 5/22/2003<br>terry : 5/21/2003<br>carol : 3/5/2003<br>tkritzer : 3/4/2003<br>tkritzer : 3/3/2003<br>cwells : 11/25/2002<br>terry : 11/20/2002<br>mcapotos : 8/30/2001<br>mcapotos : 8/23/2001<br>mcapotos : 7/17/2000<br>mcapotos : 7/14/2000<br>mcapotos : 7/13/2000<br>jlewis : 9/8/1999<br>terry : 8/30/1999<br>terry : 6/11/1999<br>jlewis : 6/9/1999<br>terry : 6/3/1999<br>terry : 6/2/1999<br>carol : 2/27/1999<br>carol : 5/1/1998<br>terry : 4/20/1998<br>terry : 11/4/1997<br>terry : 10/30/1997<br>terry : 10/16/1997<br>terry : 10/10/1997<br>mark : 2/12/1997<br>terry : 2/11/1997<br>mark : 8/22/1995<br>carol : 12/8/1994<br>jason : 7/13/1994<br>davew : 6/1/1994<br>mimadm : 4/18/1994<br>warfield : 4/15/1994
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<strong>#</strong> 216550
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COHEN SYNDROME; COH1
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<em>Alternative titles; symbols</em>
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COH<br />
HYPOTONIA, OBESITY, AND PROMINENT INCISORS<br />
PEPPER SYNDROME<br />
CHS1, FORMERLY
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<strong>SNOMEDCT:</strong> 56604005; &nbsp;
<strong>ORPHA:</strong> 193; &nbsp;
<strong>DO:</strong> 0111590; &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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8q22.2
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Cohen syndrome
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216550
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Autosomal recessive
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3
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VPS13B
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607817
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that some patients with Cohen syndrome have homozygous or compound heterozygous mutations in the COH1 gene (VPS13B; 607817) on chromosome 8q22.</p>
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<strong>Description</strong>
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<p>Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014). </p>
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<strong>Clinical Features</strong>
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<p>Cohen syndrome is one of the rare autosomal recessive disorders that are overrepresented in the Finnish population (Norio, 2003). The phenotype in Finnish patients is highly homogeneous, consisting of nonprogressive mild to severe psychomotor retardation, motor clumsiness, microcephaly, characteristic facial features, childhood hypotonia and joint laxity, progressive retinochoroidal dystrophy, myopia, intermittent isolated neutropenia, and a cheerful disposition. Characteristic facial features include high-arched or wave-shaped eyelids, a short philtrum, thick hair, and low hairline. Kolehmainen et al. (2003) stated that in non-Finnish patients thought to have Cohen syndrome, a confusing phenotypic variability prevails. Obesity, although frequently mentioned as a characteristic finding, is insignificant. On the other hand, there is no proof of retinochoroidal dystrophy or intermittent neutropenia in reports of some patients. Chandler et al. (2003) studied 33 non-Finnish patients with Cohen syndrome and concluded that Cohen syndrome has a distinctive clinical phenotype identifiable not only in Finnish patients but also in other genetically diverse patient groups. </p><p>Cohen et al. (1973) described a brother and sister and an unrelated patient with hypotonia, obesity, high nasal bridge, and prominent incisors as well as mental deficiency. Carey and Hall (1978) reported 4 additional patients. Sack and Friedman (1980) observed the syndrome in a 10-year-old girl with excessive height and floppy mitral valve. Intrafamilial variability suggested that the diagnosis may often be difficult. Kousseff (1981) described 4 affected sibs (2 of each sex) with moderate mental retardation, microcephaly, hypotonia, high nasal bridge, and narrow hands and feet with elongated fingers and toes. Three sibs were short of stature. Friedman and Sack (1982) reported 5 additional cases in 4 families, strengthening the conclusion of autosomal recessive inheritance. Mental retardation, high nasal bridge, prominent central incisors with open mouth, maxillary malar hypoplasia, and downslanting palpebral fissures were features. They suggested that the disorder may have a relatively high frequency in Ashkenazi Jews. </p><p>Since 1968, Norio et al. (1984) had observed patients with the same disorder, known by them as the 'Pepper syndrome,' from the family name. By 1984, they found reports of 25 cases (Balestrazzi et al., 1980; Goecke et al., 1982) and added 6 Finnish patients. Norio et al. (1984) added chorioretinal dystrophy and granulocytopenia to the clinical features and observed parental consanguinity in 2 instances. Ophthalmologic findings included decreased visual acuity, hemeralopia (see 310500 for a discussion of the use of the terms hemeralopia and nyctalopia), constricted visual fields, chorioretinal dystrophy with bull's-eye-like maculae and pigmentary deposits, optic atrophy, and isoelectric electroretinogram. </p><p>Fuhrmann-Rieger et al. (1984) pointed out the similarities of the Prader-Willi syndrome (176270) and Cohen syndrome. (See also Fraccaro et al., 1983). </p><p>North et al. (1985) reported 6 cases in 4 sibships. Periureteric obstruction and epilepsy were reported as possible new features. In Israel, where the Cohen syndrome seems to be unusually frequent, Sack and Friedman (1986) studied 39 patients in 32 families. Neutropenia and chorioretinal dysplasia, 2 manifestations found in all Finnish patients by Norio et al. (1984), were not found in any of these patients. Incorrect diagnoses included Marfan syndrome, Sotos syndrome, hypothyroidism, minimal brain dysfunction, and, most frequently, 'mental retardation of an unknown cause,' illustrating the difficulty of being certain of the diagnosis. </p><p>Young and Moore (1987) described 3 affected sibs. Abnormalities present in all 3 children included mental retardation, hypotonia, and short philtrum with open mouth and prominent lips. Whereas the 2 older sibs had similar facies and an engaging personality, the youngest had a different facial appearance and marked behavioral problems. Mehes et al. (1988) found mitral valve prolapse and severe gastroesophageal reflux with hiatal hernia in an affected girl aged 2 years and 4 months. These observations, along with others previously reported, suggested that Cohen syndrome may be a connective tissue disorder. </p><p>Kondo et al. (1990) described 2 affected brothers from a consanguineous marriage who also had leukopenia and mottled retina. Kondo et al. (1990) pointed out that mottled retina had been observed in 22 of 87 patients and that it appears to be family- and ethnic-specific. Among 19 familial cases, mottled retina was observed in all affected sibs from 5 families, but in 13 families none of the affected sibs had mottled retinas. All Finnish patients had the mottled retina, but this was noted in only 1 of 39 Jewish patients. Based on these observations, Kondo et al. (1990) suggested that there are 2 alleles at the gene locus for the Cohen syndrome: one for a Finnish type with mottled retina and the other for a Jewish type without retinal anomalies. They concurred with Norio and Raitta (1986) that the Mirhosseini-Holmes-Walton syndrome (268050) is the same as Cohen syndrome, or at least an allelic disorder. </p><p>Steinlein et al. (1991) described 2 brothers with findings fitting the diagnosis of both the Cohen and the Mirhosseini-Holmes-Walton syndromes but also showing severe ocular manifestations. Tapetoretinal degeneration was documented by histopathologic studies. The younger brother suffered total retinal detachment bilaterally, requiring enucleation. </p><p>Warburg et al. (1990) were of the opinion that a retinitis pigmentosa-like tapetoretinal degeneration is an 'obligatory sign' in patients with Cohen syndrome. Their patient also had granulocytopenia. </p><p>Massa et al. (1991) described isolated growth hormone deficiency in a girl with Cohen syndrome. Satisfactory catch-up growth occurred after treatment with biosynthetic human growth hormone. Fryns et al. (1991) reported a successful pregnancy in a 26-year-old woman with presumed Cohen syndrome. Her offspring had slight psychomotor retardation but was not thought to have the Cohen syndrome. </p><p>Norio (1993) indicated that the diagnosis of Cohen syndrome is suggested by the short philtrum (which is unable to cover the upper incisors), prominent root of the nose, and prominent upper central incisors. The feet are often small, and there is usually an increased space between toes 1 and 2 ('sandal groove'). The neutropenia is intermittent and harmless.</p><p>Higgins et al. (1994) demonstrated pyridoxine-responsive hyper-beta-alaninemia in a 4-year-old girl with some features of Cohen syndrome. She had crooked teeth, a small philtrum, narrow hands, and global developmental delay. Ophthalmic examination was not reported and there was no mention of obesity. </p><p>Schlichtemeier et al. (1994) described probable Cohen syndrome in African American brother and sister. The brother, who presented at age 13 years with new-onset seizures, sagittal sinus thrombosis with cerebral hemorrhage, and extensive venous thrombosis of the lower limbs, showed combined deficiency of protein C, protein S, and antithrombin III. Carotid aneurysm and tortuous descending aorta were also present. Schlichtemeier et al. (1994) suggested that vasculopathy may be an integral part of the Cohen syndrome. </p><p>North et al. (1995) reported the cases of identical female twins with Cohen syndrome. They presented with retinal degeneration, obesity, and mental retardation, and had the characteristic facial appearance. Unusual features of the twins included tall stature, macrocephaly, and transient cardiomyopathy during the first year of life. Precocious puberty was present in both girls; the development of breast buds and axillary hair was noted at the age 7.5 years. </p><p>Kivitie-Kallio et al. (1997) reported hematologic data on 26 Finnish patients with Cohen syndrome. All had experienced periods of isolated granulocytopenia from an early age. Granulocytopenia was mild to moderate, noncyclic, and never fatal. Most patients suffered from prolonged or repeated gingival or skin infections. In 16 patients studied in detail, bone marrow examination showed a normo- or hypercellular marrow, with a left-shifted granulopoiesis in 8 of the 16 patients. The response to adrenaline stimulation was subnormal in 12 of 14 and to hydrocortisone in 8 of 16 patients, but administration of recombinant GCSF (138970) caused granulocytosis in the 3 patients studied. No bone marrow malignancies were seen. </p><p>Olivieri et al. (1998) studied the bone marrow and the functional properties of neutrophils obtained from peripheral blood or skin window exudates from a patient with Cohen syndrome. Neutrophil adhesive capability was greatly increased in this patient. Cytofluorometric expression of CD11B (120980) and CD62L molecules were consistent with a generalized neutrophil activation in vivo. The patient was a 22-year-old girl with neutropenia and recurrent gingivitis. A tentative diagnosis of Prader-Willi syndrome had been made in childhood. However, her features, including obesity, hypotonia, microcephaly, chorioretinal dystrophy, high nasal bridge, narrow hands and feet, narrow and high-arched palate, and prominent central incisors, were more consistent with Cohen syndrome. </p><p>In 3 patients with Cohen syndrome, Okamoto et al. (1998) found a remarkably high level of urinary hyaluronic acid. They pointed out that hyperhyaluronic aciduria is a characteristic finding in Werner syndrome (277700) and some other conditions. Okamoto et al. (1998) suggested that the basic defect in Cohen syndrome involves a metabolic abnormality in the extracellular matrix. </p><p>Kivitie-Kallio et al. (1998) performed MRI on 18 patients with Cohen syndrome and 26 healthy volunteers. The main finding was a relatively enlarged corpus callosum. A relatively enlarged corpus callosum in a microcephalic head and normal signal intensities of the gray and white matters supports a clinical suspicion of Cohen syndrome. </p><p>Kivitie-Kallio et al. (1999) evaluated cardiac, endocrine, and radiologic abnormalities in 22 patients of Finnish descent with Cohen syndrome. No evidence for clinically significant mitral prolapse was found; however, a decreased left ventricular function with advancing age was identified. No significant endocrine abnormalities were found in examination of pituitary, adrenal, and thyroid function. The patients were either of normal height or were moderately short at all ages, often associated with marked kyphosis. Truncal obesity was seen in 4 of the 22 patients. X-rays of the chest, lumbar and thoracic spine, long bones, ankles, and metacarpophalangeal pattern profiles revealed kyphosis, scoliosis, and calcaneo planovalgus as common features. Fingers of these patients were slender but short with a characteristic metacarpophalangeal pattern profile. </p><p>Horn et al. (2000) reported 2 brothers and a cousin from a multiply consanguineous kindred of Lebanese descent with a syndrome of microcephaly, progressive postnatal growth deficiency, mental retardation, hypotonia, chorioretinal dystrophy, and myopia. The severity of the condition varied among the affected family members. Horn et al. (2000) suggested that the syndrome they reported, the Cohen syndrome, and the Mirhosseini-Holmes-Walton syndrome may be the same or allelic disorders. </p><p>Kivitie-Kallio et al. (2000) reported ophthalmologic findings from 22 Finnish patients with Cohen syndrome. </p><p>Hurmerinta et al. (2002) pointed to the fact that Cohen syndrome is relatively common in Finland, where 35 patients had been diagnosed. They obtained anthropometric measurements of the head and face of 22 patients, and cephalometric radiographs of 14 patients. Anthropometric analysis confirmed and quantified the small head size. Width of the upper face was close to normal but width of the lower face was small. The philtrum was shorter than in healthy controls. Measurements from standardized radiographs showed short cranial base dimensions but normal cranial base angles. Most patients had forward-inclined upper incisors and maxillary prognathia. </p><p>De Ravel et al. (2002) reevaluated a brother and sister, the offspring of first cousins, who were originally reported by Buntinx et al. (1991) as representing an apparently new syndrome of mental retardation, short stature, unusual face, radioulnar synostosis, and retinal pigment abnormalities. De Ravel et al. (2002) concluded that the 55-year-old brother and 52-year-old sister had Cohen syndrome. Both had neutropenia and the male had persistent fluctuating thrombocytopenia. De Ravel et al. (2002) stated that asymptomatic thrombocytopenia had not previously been reported in Cohen syndrome. </p><p>In their series of 33 non-Finnish patients with Cohen syndrome, Chandler et al. (2003) identified laryngeal abnormalities, including laryngomalacia, laryngeal stenosis, and vocal cord paralysis, as an associated feature. </p><p>Karpf et al. (2004) reported findings on cognitive, linguistic, and adaptive profiles in a group of 45 individuals clinically diagnosed with Cohen syndrome at ages varying from 4 to 49 years. Independence levels were generally poor, but socialization skills were relatively less impaired. This particular area of strength was thought to underlie the 'sociable' temperament typically associated with Cohen syndrome. The range of cognitive ability was wider in this study than reported in most previous studies, raising the issue of whether mental retardation should be considered a necessary component of the phenotype. </p><p>Kolehmainen et al. (2004) undertook an extensive molecular assessment of 76 patients from 59 families with a provisional diagnosis of Cohen syndrome and correlated molecular and clinical findings. The patients were assessed for the following 8 clinical criteria: developmental delay, microcephaly, typical Cohen syndrome facial gestalt, truncal obesity with slender extremities, overly sociable behavior, joint hypermobility, high myopia and/or retinal dystrophy, and neutropenia. Patients fulfilling 6 or more criteria were considered likely to have true Cohen syndrome. Those with lower scores (5 of 8 or fewer) were considered provisionally to have a Cohen-like syndrome. Kolehmainen et al. (2004) found 22 different COH1 mutations, of which 19 were novel, in probands identified by these diagnostic criteria. In addition, they identified another 3 novel mutations in patients with incomplete clinical data. By contrast, no COH1 mutations were found in patients with a provisional diagnosis of Cohen syndrome who were labeled 'Cohen-like.' </p><p>Falk et al. (2004) described 8 members of 2 large Amish kindreds who had early-onset pigmentary retinopathy and myopia, global developmental delay and mental retardation, microcephaly, short stature, hypotonia, joint hyperextensibility, small hands and feet, and a friendly disposition. Several of the children had intermittent granulocytopenia. Affected individuals shared a common facial appearance involving mild synophrys, hypertelorism, wide and wave-shaped palpebral fissures, low nasal bridge with a pinched root and bulbous tip, smooth philtrum, thin upper lip, and hypotonic facies. They appeared to grimace when smiling. Although the facial gestalt was considered inconsistent with the diagnosis of Cohen syndrome, sequencing of the COH1 gene revealed compound homozygosity in all affected individuals for both a frameshift (607817.0009) and a missense (607817.0010) mutation in the COH1 gene. Falk et al. (2004) concluded that facial gestalt is an unreliable indicator of Cohen syndrome between ethnic populations, although it is consistent among affected individuals within a particular ethnic group. </p><p>Waite et al. (2010) reported 3 patients, including 2 patients of Pakistani descent from a consanguineous kindred who were distally related, with genetically confirmed Cohen syndrome. All had the typical facial appearance, developmental delay, and ocular anomalies, and all also had cerebellar hypoplasia on brain imaging, which Waite et al. (2010) concluded may be a feature of this disorder. </p><p>Rivera-Brugues et al. (2011) reported 3 patients with genetically confirmed Cohen syndrome who were younger than 3 years of age. None had neutropenia, and only 1 had mildly increased pigmentation of the retina. Common features included hypotonic facial expression, almond-shaped eyes, prominent nose, short philtrum, delayed psychomotor development, and mental retardation. The authors noted that the facial phenotype and some additional features of the disorder change with time. </p><p><strong><em>Clinical Variability</em></strong></p><p>
Gueneau et al. (2014) described a 33-year-old woman who had recurrent infections in infancy and childhood and was diagnosed with chronic and intermittent neutropenia. Speech and motor development was normal. At 25 years of age, she had reduced visual fields and retinal abnormalities, and was diagnosed with retinal dystrophy. Upon examination at 33 years of age, she had short stature, borderline microcephaly, and the typical facial gestalt for Cohen syndrome: facial dysmorphism included moderately downslanting palpebral fissures, convex and high nasal bridge, malar hypoplasia, short philtrum, and mild ptosis. She had slender extremities but no joint hypermobility or truncal obesity. In addition, her intellectual development was normal; she had attended high school and had a reported IQ of 100. Funduscopy revealed moderate pigmentary retinopathy with rare bone spicule-shaped pigment deposits in the periphery and macular edema. Electroretinography revealed severely decreased responses in both scotopic and photopic conditions, indicating that both rod and cone photoreceptor responses were impaired. </p><p>Megarbane et al. (2001) described a nonconsanguineous Lebanese family in which 2 brothers had a seemingly distinct syndrome comprising microcephaly, primary cutis verticis gyrata, progressive retinitis pigmentosa, cataracts, sensorineural hearing loss, and mental retardation. The brothers were 41 and 53 years of age. In the older brother the scalp features had appeared 10 years earlier. In the younger brother visual problems became obvious at age 12 and the auditory problem at age 30. Night blindness had been noted from age 20. By a genomewide scan in this family, Megarbane et al. (2009) found a region of homozygosity by descent in the region of chromosome 8 containing the VPS13B gene. Sequencing of this gene identified a homozygous mutation (607817.0016) in the affected brothers that segregated with the disorder in the family. Megarbane et al. (2009) noted that the features in the brothers were compatible with Cohen syndrome with the additional features of cutis verticis gyrata and sensorineural deafness. They also noted that the hearing loss and cutis verticis gyrata could be caused by mutations in a different gene and locus, but that their linkage data did not support the presence of another causative homozygous locus and no deafness gene or locus had been identified on chromosome 8q. Because cutis verticis gyrata is frequently associated with mental retardation, they suggested that it may be a rare manifestation of Cohen syndrome. </p>
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<strong>Biochemical Features</strong>
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<p>Duplomb et al. (2014) found that the serum proteins of 11 patients with genetically confirmed Cohen syndrome showed an unusual pattern of glycosylation characterized by a significant accumulation of agalactosylated fucosylated structures, as well as asialylated fucosylated structures, suggesting a defect of N-glycosylation in the Golgi. Glycosylation of the intracellular proteins ICAM1 (147840) and LAMP2 (309060) also showed an abnormal profile pattern. However, serum transferrin and a alpha-1-antitrypsin (SERPINA1; 107400) were normal. In vitro knockdown of VPS13B confirmed these glycosylation defects. Patient fibroblasts showed alterations in Golgi morphology, decreased or absent early endosomes, and abnormally enlarged lysosomes, suggesting a crucial role for VPS13B in endosomal-lysosomal trafficking. The findings indicated that Cohen syndrome is associated with major glycosylation defects, which may contribute to the phenotype. </p>
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<strong>Diagnosis</strong>
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<p>Kivitie-Kallio and Norio (2001) reported the results of their nationwide study of 29 patients with Cohen syndrome in Finland. They found the following features to be essential for the diagnosis: nonprogressive psychomotor retardation, motor clumsiness, and microcephaly; typical facial features including high-arched eyelids, short philtrum, thick hair, and low hairline; childhood hypotonia and hyperextensibility of the joints; ophthalmologic findings of retinochoroidal dystrophy and myopia in patients over 5 years of age; and periods of isolated granulocytopenia. They noted a changing phenotype with age. In their patients, psychomotor retardation was profound in 22%, severe in 61%, moderate in 6%, and mild in 11%. </p><p>On the basis of a study of 33 non-Finnish patients with Cohen syndrome, Chandler et al. (2003) contended that the diagnostic criteria suggested by Kivitie-Kallio and Norio (2001) are important but not obligatory features. As an aid to diagnosis, they proposed the presence of at least 2 of the following major criteria in a child with significant learning difficulties: (1) facial gestalt, characterized by thick hair, eyebrows and eyelashes, wave-shaped, downward-slanting palpebral fissures, prominent, beak-shaped nose, short, upturned philtrum with grimacing expression on smiling; (2) pigmentary retinopathy; and (3) neutropenia. Less specific but supportive criteria included early-onset, progressive myopia; microcephaly; truncal obesity with slender extremities; and joint hyperextensibility. </p>
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<strong>Pathogenesis</strong>
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<p>Limoge et al. (2015) characterized the obesity phenotype in 14 patients with COH1 by examining clinical, glucose, and lipid metabolism features. All patients had truncal obesity, despite a normal BMI in most of them. Although triglyceride, total cholesterol, and LDL values were normal in most patients, HDL was abnormally low in 9 of 13 patients. Leptin was elevated in 8 of 11 patients in whom it was measured, 2 of whom were obese by BMI. Blood pressure was elevated (more than 130/85) in 4 of 8 patients. Fasting blood glucose was normal in 12 of 13 patients, but oral glucose tolerance test showed impaired glucose tolerance after 2 hours in 4 of 9 patients tested. Limoge et al. (2015) also studied primary fibroblasts from COH1 patients as well as SGBS (see 312870) preadipocytes in which expression of VPS13B was knocked down by RNAi, and observed accelerated differentiation into fat cells. This was confirmed by earlier and increased expression of specific adipogenic genes, consequent to the increased response of the cells to insulin stimulation. At the end of the differentiation protocol, these fat cells exhibited decreased AKT2 (164731) phosphorylation after insulin stimulation, suggestive of insulin resistance. Limoge et al. (2015) concluded that VPS13B is an important regulator of adipogenesis, and that defective VPS13B results in increased fat storage and a risk of type 2 diabetes mellitus in patients with COH1. </p>
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<strong>Mapping</strong>
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<p>In 2 brothers born of consanguineous parents, Kondo et al. (1990) found that Cohen syndrome was not linked to markers in the 15q11-q12 region. </p><p>Tahvanainen et al. (1994) mapped the Cohen syndrome locus, symbolized CHS1 by them, to chromosome 8 in an interval of approximately 10 cM between D8S270 and D8S521. Both of these markers had been assigned to 8q22 (Wood et al., 1993). Their studies involved four 2-generation Finnish pedigrees showing uniform clinical features in the affected members. All the remaining 9 patients in Finland were isolated cases in their families. Although not of value for linkage studies, they would be fully informative for the analysis of linkage disequilibrium and haplotype associations. In the Finnish population, one might anticipate a single founding chromosome carrying the disease mutation. Tahvanainen et al. (1994) suggested that the linkage information may help establish or rule out genetic heterogeneity of Cohen syndrome, including answering the question as to whether the ocular findings and leukopenia indicate a separate entity. </p><p>By linkage disequilibrium analysis, Kolehmainen et al. (1997) narrowed the COH1 region to the immediate vicinity of D8S1762. Haplotype analysis suggested the occurrence of 1 main COH1 mutation and possibly 1 or 2 rare ones in Finland. </p><p>By homozygosity mapping in a consanguineous Lebanese kindred, Horn et al. (2000) localized the gene responsible for this condition to a 26.8-cM region on chromosome 8q21.3-q22.1. This region overlapped the refined gene region for Cohen syndrome (Kolehmainen et al., 1997). Horn et al. (2000) hypothesized that the syndrome in their family, Cohen syndrome, and Mirhosseini-Holmes-Walton syndrome may be allelic. </p><p>Segregation analysis in 11 non-Finnish families with Cohen syndrome by Chandler et al. (2003) was consistent with linkage of the disorder to the COH1 critical region on chromosome 8. </p>
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<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Cytogenetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Fryns et al. (1990) described a 15-year-old girl with features of Cohen syndrome and a de novo, apparently balanced reciprocal translocation t(5q;7p)(q33.1;p15.1). They suggested that the Cohen syndrome may be due to a mutation in a gene located at either 5q33.1 or 7p15.1. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The transmission pattern of COH1 in the families reported by Kolehmainen et al. (2003) was consistent with autosomal recessive inheritance. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>By haplotype analysis, Kolehmainen et al. (2003) refined the critical Cohen syndrome region on 8q22 and characterized a novel gene, COH1, that is mutated in patients with Cohen syndrome (see 607817.0001-607817.0003). In 1 non-Finnish patient with Cohen syndrome studied by Kolehmainen et al. (2003), no mutation was found in the COH1 gene, suggesting genetic heterogeneity. </p><p>By segregation analysis in 11 non-Finnish families with Cohen syndrome, Chandler et al. (2003) demonstrated allele sharing in affected but not unaffected sibs within the COH1 critical region. Haplotype analysis suggested the presence of allelic heterogeneity. </p><p>Seifert et al. (2006) studied 24 patients with Cohen syndrome from 16 families of varying ethnic backgrounds and identified 25 different mutations in the COH1 gene, including 9 nonsense mutations, 8 frameshift mutations, 4 verified splice site mutations, 3 larger in-frame deletions, and 1 missense mutation. There was marked variability of developmental and growth parameters, although the typical facial gestalt was seen in 23 of 24 patients. Early-onset progressive myopia was present in all the patients older than 5 years, with widespread pigmentary retinopathy seen in 12 of 14 patients assessed who were over 5 years of age. </p><p>Katzaki et al. (2007) identified pathogenic mutations in the COH1 gene in 10 Italian patients with Cohen syndrome from 9 families. All patients had characteristic features of the disorder, although with greater variability than reported for Finnish patients. Heterozygous partial COH1 gene deletions were identified in 2 different families. </p><p>In 14 individuals with Cohen syndrome from an isolated population on 2 small adjacent islands in the eastern part of the Greek archipelago, Bugiani et al. (2008) identified a large homozygous deletion of exon 6 through 16 in the VPS13B gene (607817.0011). Twelve of the patients belonged to a large consanguineous kindred. The phenotype was relatively homogeneous, with common features including moderate to severe mental retardation, slender extremities with narrow hands and feet, joint hypermobility, and the typical facial gestalt. Microcephaly was not as profound as reported in Finnish patients. </p><p>Parri et al. (2010) used multiplex ligation-dependent probe amplification (MLPA) to analyze the VPS13B gene in 14 patients with Cohen syndrome from 11 families, including 4 patients from 3 families previously studied by Katzaki et al. (2007). All 14 patients displayed the typical Cohen facial gestalt, narrow extremities, and truncal adiposity, and microcephaly was present in 9 of the 14 patients. Parri et al. (2010) detected 12 different mutations, including 6 frameshift, 3 splice site, and 2 nonsense mutations, as well as 1 complex rearrangement. Four patients from 3 Italian families carried the same large deletion of exon 6 through 16 previously identified in Greek patients by Bugiani et al. (2008). Haplotype analysis of 1 of the Greek patients as well as the 4 Italian patients suggested that the recurrent deletion is due to an ancestral founder effect in the Mediterranean area. </p><p>Using high-density oligonucleotide array data to analyze copy number variation (CNV), Rivera-Brugues et al. (2011) found that 3 of 1,523 patients with unexplained mental retardation had intragenic heterozygous deletions in the COH1 gene. Subsequent sequencing of the COH1 gene revealed point mutations in the second allele in all 3 patients. No CNVs involving the COH1 gene were found in 1,612 controls. The report was an example of how microarrays can be used to identify autosomal recessive syndromes and to extend the phenotypic and mutational spectrum of recessive disorders. </p><p>In a 33-year-old woman who exhibited the typical facial gestalt of Cohen syndrome and had neutropenia and retinopathy, but who did not display truncal obesity or mental retardation, Gueneau et al. (2014) identified compound heterozygosity for 2 splice site mutations in the VPS13B gene (607817.0014; 607817.0015). The authors suggested that a dosage effect of residual normal VPS13B protein might explain the incomplete phenotype in this patient. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Nomenclature</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The preferred symbol for Cohen syndrome is COH1 because the symbol CHS1 had already been established for Chediak-Higashi syndrome (214500).</p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Balestrazzi, P., Corrini, L., Villani, G., Bolla, M. P., Casa, F., Bernasconi, S.
<strong>The Cohen syndrome: clinical and endocrinological studies of two new cases.</strong>
J. Med. Genet. 17: 430-432, 1980.
[PubMed: 6782211]
[Full Text: https://doi.org/10.1136/jmg.17.6.430]
</p>
</li>
<li>
<p class="mim-text-font">
Bugiani, M., Gyftodimou, Y., Tsimpouka, P., Lamantea, E., Katzaki, E., d'Adamo, P., Nakou, S., Georgoudi, N., Grigoriadou, M., Tsina, E., Kabolis, N., Milani, D., Pandelia, E., Kokotas, H., Gasparini, P., Giannoulia-Karantana, A., Renieri, A., Zeviani, M., Petersen, M. B.
<strong>Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population.</strong>
Am. J. Med. Genet. 146A: 2221-2226, 2008.
[PubMed: 18655112]
[Full Text: https://doi.org/10.1002/ajmg.a.32239]
</p>
</li>
<li>
<p class="mim-text-font">
Buntinx, I. M., Lormans, J. A. G., Martin, J. J., Dumon, J. E.
<strong>A new association of mental retardation, short stature, unusual face, radio-ulnar synostosis and retinal pigment abnormalities.</strong>
Genet. Counsel. 2: 237-240, 1991.
[PubMed: 1799423]
</p>
</li>
<li>
<p class="mim-text-font">
Carey, J. C., Hall, B. D.
<strong>Confirmation of the Cohen syndrome.</strong>
J. Pediat. 93: 239-244, 1978.
[PubMed: 671157]
[Full Text: https://doi.org/10.1016/s0022-3476(78)80504-6]
</p>
</li>
<li>
<p class="mim-text-font">
Chandler, K. E., Kidd, A., Al-Gazali, L., Kolehmainen, J., Lehesjoki, A.-E., Black, G. C. M., Clayton-Smith, J.
<strong>Diagnostic criteria, clinical characteristics, and natural history of Cohen syndrome.</strong>
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[PubMed: 12676892]
[Full Text: https://doi.org/10.1136/jmg.40.4.233]
</p>
</li>
<li>
<p class="mim-text-font">
Cohen, M. M., Jr., Hall, B. D., Smith, D. W., Graham, C. B., Lampert, K. J.
<strong>A new syndrome with hypotonia, obesity, mental deficiency, and facial, oral, ocular and limb anomalies.</strong>
J. Pediat. 83: 280-284, 1973.
[PubMed: 4717588]
[Full Text: https://doi.org/10.1016/s0022-3476(73)80493-7]
</p>
</li>
<li>
<p class="mim-text-font">
De Ravel, T. J. L., Dillen, K., Fryns, J. P.
<strong>A new association of mental retardation, short stature, unusual face, radio-ulnar synostosis and retinal pigment abnormalities: Cohen syndrome with thrombocytopenia. (Letter)</strong>
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</p>
</li>
<li>
<p class="mim-text-font">
Duplomb, L., Duvet, S., Picot, D., Jego, G., El Chehadeh-Djebbar, S., Marle, N., Gigot, N., Aral, B., Carmignac, V., Thevenon, J., Lopez, E., Riviere, J.-B., and 13 others.
<strong>Cohen syndrome is associated with major glycosylation defects.</strong>
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[Full Text: https://doi.org/10.1093/hmg/ddt630]
</p>
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<p class="mim-text-font">
Falk, M. J., Feiler, H. S., Neilson, D. E., Maxwell, K., Lee, J. V., Segall, S. K., Robin, N. H., Wilhelmsen, K. C., Traskelin, A.-L., Kolehmainen, J., Lehesjoki, A.-E., Wiznitzer, M., Warman, M. L.
<strong>Cohen syndrome in the Ohio Amish.</strong>
Am. J. Med. Genet. 128A: 23-28, 2004.
[PubMed: 15211651]
[Full Text: https://doi.org/10.1002/ajmg.a.30033]
</p>
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<li>
<p class="mim-text-font">
Fraccaro, M., Zuffardi, O., Buhler, E., Schinzel, A., Simoni, G., Witkowski, R., Bonifaci, E., Caufin, D., Cignacco, G., Delendi, N., Gargantini, L., Losanowa, T., Marca, L., Ullrich, E., Vigi, V.
<strong>Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome: analysis of seven cases after varying ascertainment.</strong>
Hum. Genet. 64: 388-394, 1983.
[PubMed: 6618490]
[Full Text: https://doi.org/10.1007/BF00292373]
</p>
</li>
<li>
<p class="mim-text-font">
Friedman, E., Sack, J.
<strong>The Cohen syndrome: report of five new cases and a review of the literature.</strong>
J. Craniofac. Genet. Dev. Biol. 2: 193-200, 1982.
[PubMed: 7166592]
</p>
</li>
<li>
<p class="mim-text-font">
Fryns, J. P., Lemmens, F., van den Berghe, H.
<strong>Cohen syndrome: fertility in a female patient.</strong>
Clin. Genet. 40: 461-464, 1991.
[PubMed: 1778007]
[Full Text: https://doi.org/10.1111/j.1399-0004.1991.tb03118.x]
</p>
</li>
<li>
<p class="mim-text-font">
Fryns, J.-P., Kleczkowska, A., Smeets, E., Thiry, P., Geutjens, J., Van den Berghe, H.
<strong>Cohen syndrome and de novo reciprocal translocation t(5;7)(q33.1;p15.1).</strong>
Am. J. Med. Genet. 37: 546-547, 1990.
[PubMed: 2260606]
[Full Text: https://doi.org/10.1002/ajmg.1320370425]
</p>
</li>
<li>
<p class="mim-text-font">
Fuhrmann-Rieger, A., Kohler, A., Fuhrmann, W.
<strong>Duplication or insertion in 15q11-13 associated with mental retardation--short stature and obesity--Prader-Willi or Cohen syndrome?</strong>
Clin. Genet. 25: 347-352, 1984.
[PubMed: 6713711]
[Full Text: https://doi.org/10.1111/j.1399-0004.1984.tb02002.x]
</p>
</li>
<li>
<p class="mim-text-font">
Goecke, T., Majewski, F., Kauther, K. D., Sterzel, U.
<strong>Mental retardation, hypotonia, obesity, ocular, facial, dental, and limb abnormalities (Cohen syndrome); report of three patients.</strong>
Europ. J. Pediat. 138: 338-340, 1982.
[PubMed: 7128643]
[Full Text: https://doi.org/10.1007/BF00442512]
</p>
</li>
<li>
<p class="mim-text-font">
Gueneau, L., Duplomb, L., Sarda, P., Hamel, C., Aral, B., El Chehadeh, S., Gigot, N., St-Onge, J., Callier, P., Thevenon, J., Huet, F., Carmignac, V., Droin, N., Faivre, L., Thauvin-Robinet, C.
<strong>Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations.</strong>
Am. J. Med. Genet. 164A: 522-527, 2014.
[PubMed: 24311531]
[Full Text: https://doi.org/10.1002/ajmg.a.36300]
</p>
</li>
<li>
<p class="mim-text-font">
Higgins, J. J., Kaneski, C. R., Bernardini, I., Brady, R. O., Barton, N. W.
<strong>Pyridoxine-responsive hyper-beta-alaninemia associated with Cohen&#x27;s syndrome.</strong>
Neurology 44: 1728-1732, 1994.
[PubMed: 7936305]
[Full Text: https://doi.org/10.1212/wnl.44.9.1728]
</p>
</li>
<li>
<p class="mim-text-font">
Horn, D., Krebsova, A., Kunze, J., Reis, A.
<strong>Homozygosity mapping in a family with microcephaly, mental retardation, and short stature to a Cohen syndrome region on 8q21.3-8q22.1: redefining a clinical entity.</strong>
Am. J. Med. Genet. 92: 285-292, 2000.
[PubMed: 10842298]
</p>
</li>
<li>
<p class="mim-text-font">
Hurmerinta, K., Pirinen, S., Kovero, O., Kivitie-Kallio, S.
<strong>Craniofacial features in Cohen syndrome: an anthropometric and cephalometric analysis of 14 patients.</strong>
Clin. Genet. 62: 157-164, 2002.
[PubMed: 12220454]
[Full Text: https://doi.org/10.1034/j.1399-0004.2002.620209.x]
</p>
</li>
<li>
<p class="mim-text-font">
Karpf, J., Turk, J., Howlin, P.
<strong>Cognitive, language, and adaptive behavior profiles in individuals with a diagnosis of Cohen syndrome.</strong>
Clin. Genet. 65: 327-332, 2004.
[PubMed: 15025727]
[Full Text: https://doi.org/10.1111/j.1399-0004.2004.00229.x]
</p>
</li>
<li>
<p class="mim-text-font">
Katzaki, E., Pescucci, C., Uliana, V., Papa, F. T., Ariani, F., Meloni, I., Priolo, M., Selicorni, A., Milani, D., Fischetto, R., Celle, M. E., Grasso, R., Dallapiccola, B., Brancati, F., Bordignon, M., Tenconi, R., Federico, A., Mari, F., Renieri, A., Longo, I.
<strong>Clinical and molecular characterization of Italian patients affected by Cohen syndrome.</strong>
J. Hum. Genet. 52: 1011-1017, 2007. Note: Erratum: J. Hum. Genet. 53: 285 only, 2008.
[PubMed: 17990063]
[Full Text: https://doi.org/10.1007/s10038-007-0208-4]
</p>
</li>
<li>
<p class="mim-text-font">
Kivitie-Kallio, S., Autti, T., Salonen, O., Norio, R.
<strong>MRI of the brain in the Cohen syndrome: a relatively large corpus callosum in patients with mental retardation and microcephaly.</strong>
Neuropediatrics 29: 298-301, 1998.
[PubMed: 10029348]
[Full Text: https://doi.org/10.1055/s-2007-973581]
</p>
</li>
<li>
<p class="mim-text-font">
Kivitie-Kallio, S., Eronen, M., Lipsanen-Nyman, M., Marttinen, E., Norio, R.
<strong>Cohen syndrome: evaluation of its cardiac, endocrine and radiological features.</strong>
Clin. Genet. 56: 41-50, 1999.
[PubMed: 10466416]
[Full Text: https://doi.org/10.1034/j.1399-0004.1999.560106.x]
</p>
</li>
<li>
<p class="mim-text-font">
Kivitie-Kallio, S., Norio, R.
<strong>Cohen syndrome: essential features, natural history, and heterogeneity.</strong>
Am. J. Med. Genet. 102: 125-135, 2001.
[PubMed: 11477603]
[Full Text: https://doi.org/10.1002/1096-8628(20010801)102:2&lt;125::aid-ajmg1439&gt;3.0.co;2-0]
</p>
</li>
<li>
<p class="mim-text-font">
Kivitie-Kallio, S., Rajantie, J., Juvonen, E., Norio, R.
<strong>Granulocytopenia in Cohen syndrome.</strong>
Brit. J. Haemat. 98: 308-311, 1997.
[PubMed: 9266925]
[Full Text: https://doi.org/10.1046/j.1365-2141.1997.2323049.x]
</p>
</li>
<li>
<p class="mim-text-font">
Kivitie-Kallio, S., Summanen, P., Raitta, C., Norio, R.
<strong>Ophthalmologic findings in Cohen syndrome: a long-term follow-up.</strong>
Ophthalmology 107: 1737-1745, 2000.
[PubMed: 10964838]
[Full Text: https://doi.org/10.1016/s0161-6420(00)00279-7]
</p>
</li>
<li>
<p class="mim-text-font">
Kolehmainen, J., Black, G. C. M., Saarinen, A., Chandler, K., Clayton-Smith, J., Traskelin, A.-L., Perveen, R., Kivitie-Kallio, S., Norio, R., Warburg, M., Fryns, J.-P., de la Chapelle, A., Lehesjoki, A.-E.
<strong>Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport.</strong>
Am. J. Hum. Genet. 72: 1359-1369, 2003.
[PubMed: 12730828]
[Full Text: https://doi.org/10.1086/375454]
</p>
</li>
<li>
<p class="mim-text-font">
Kolehmainen, J., Norio, R., Kivitie-Kallio, S., Tahvanainen, E., de la Chapelle, A., Lehesjoki, A.-E.
<strong>Refined mapping of the Cohen syndrome gene by linkage disequilibrium.</strong>
Europ. J. Hum. Genet. 5: 206-213, 1997.
[PubMed: 9359041]
</p>
</li>
<li>
<p class="mim-text-font">
Kolehmainen, J., Wilkinson, R., Lehesjoki, A.-E., Chandler, K., Kivitie-Kallio, S., Clayton-Smith, J., Traskelin, A.-L., Waris, L., Saarinen, A., Khan, J., Gross-Tsur, V., Traboulsi, E. I., Warburg, M., Fryns, J.-P., Norio, R., Black, G. C. M., Manson, F. D. C.
<strong>Delineation of Cohen syndrome following a large-scale genotype-phenotype screen.</strong>
Am. J. Hum. Genet. 75: 122-127, 2004.
[PubMed: 15141358]
[Full Text: https://doi.org/10.1086/422197]
</p>
</li>
<li>
<p class="mim-text-font">
Kondo, I., Hamabe, J., Yamamoto, K., Niikawa, N.
<strong>Exclusion mapping of the Cohen syndrome gene from the Prader-Willi syndrome locus.</strong>
Clin. Genet. 38: 422-426, 1990.
[PubMed: 1981180]
[Full Text: https://doi.org/10.1111/j.1399-0004.1990.tb03607.x]
</p>
</li>
<li>
<p class="mim-text-font">
Kondo, I., Nagataki, S., Miyagi, N.
<strong>The Cohen syndrome: does mottled retina separate a Finnish and a Jewish type?</strong>
Am. J. Med. Genet. 37: 109-113, 1990.
[PubMed: 2240027]
[Full Text: https://doi.org/10.1002/ajmg.1320370126]
</p>
</li>
<li>
<p class="mim-text-font">
Kousseff, B. G.
<strong>Cohen syndrome: further delineation and inheritance.</strong>
Am. J. Med. Genet. 9: 25-30, 1981.
[PubMed: 7246618]
[Full Text: https://doi.org/10.1002/ajmg.1320090106]
</p>
</li>
<li>
<p class="mim-text-font">
Limoge, F., Faivre, L., Gautier, T., Petit, J.-M., Gautier, E., Masson, D., Jego, G., El Chehadeh-Djebbar, S., Marle, N., Carmignac, V., Deckert, V., Brindisi, M.-C., Edery, P., Ghoumid, J., Blair, E., Lagrost, L., Thauvin-Robinet, C., Duplomb, L.
<strong>Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen syndrome.</strong>
Hum. Molec. Genet. 24: 6603-6613, 2015.
[PubMed: 26358774]
[Full Text: https://doi.org/10.1093/hmg/ddv366]
</p>
</li>
<li>
<p class="mim-text-font">
Massa, G., Dooms, L., Vanderschueren-Lodeweyckx, M.
<strong>Growth hormone deficiency in a girl with the Cohen syndrome.</strong>
J. Med. Genet. 28: 48-50, 1991.
[PubMed: 1999833]
[Full Text: https://doi.org/10.1136/jmg.28.1.48]
</p>
</li>
<li>
<p class="mim-text-font">
Megarbane, A., Slim, R., Nurnberg, G., Ebermann, I., Nurnberg, P., Bolz, H. J.
<strong>A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness.</strong>
Europ. J. Hum. Genet. 17: 1076-1079, 2009.
[PubMed: 19190672]
[Full Text: https://doi.org/10.1038/ejhg.2008.273]
</p>
</li>
<li>
<p class="mim-text-font">
Megarbane, A., Waked, N., Chouery, E., Moglabey, Y. B., Saliba, N., Mornet, E., Serre, J.-L., Slim, R.
<strong>Microcephaly, cutis verticis gyrata of the scalp, retinitis pigmentosa, cataracts, sensorineural deafness, and mental retardation in two brothers.</strong>
Am. J. Med. Genet. 98: 244-249, 2001.
[PubMed: 11169562]
[Full Text: https://doi.org/10.1002/1096-8628(20010122)98:3&lt;244::aid-ajmg1084&gt;3.0.co;2-w]
</p>
</li>
<li>
<p class="mim-text-font">
Mehes, K., Kosztolanyi, G., Kardos, M., Horvath, M.
<strong>Cohen syndrome: a connective tissue disorder?</strong>
Am. J. Med. Genet. 31: 131-133, 1988.
[PubMed: 3223494]
[Full Text: https://doi.org/10.1002/ajmg.1320310115]
</p>
</li>
<li>
<p class="mim-text-font">
Norio, R., Raitta, C., Lindahl, E.
<strong>Further delineation of the Cohen syndrome; report on chorioretinal dystrophy, leukopenia and consanguinity.</strong>
Clin. Genet. 25: 1-14, 1984.
[PubMed: 6705238]
[Full Text: https://doi.org/10.1111/j.1399-0004.1984.tb00456.x]
</p>
</li>
<li>
<p class="mim-text-font">
Norio, R., Raitta, C.
<strong>Are the Mirhosseini-Holmes-Walton syndrome and the Cohen syndrome identical?</strong>
Am. J. Med. Genet. 25: 397-398, 1986.
[PubMed: 3096139]
[Full Text: https://doi.org/10.1002/ajmg.1320250227]
</p>
</li>
<li>
<p class="mim-text-font">
Norio, R.
<strong>Personal Communication.</strong>
Helsinki, Finland 5/29/1993.
</p>
</li>
<li>
<p class="mim-text-font">
Norio, R.
<strong>The Finnish disease heritage. I. Characteristics, causes, background.</strong>
Hum. Genet. 112: 441-456, 2003.
[PubMed: 12627295]
[Full Text: https://doi.org/10.1007/s00439-002-0875-3]
</p>
</li>
<li>
<p class="mim-text-font">
North, C., Patton, M. A., Baraitser, M., Winter, R. M.
<strong>The clinical features of the Cohen syndrome: further case reports.</strong>
J. Med. Genet. 22: 131-134, 1985.
[PubMed: 3989828]
[Full Text: https://doi.org/10.1136/jmg.22.2.131]
</p>
</li>
<li>
<p class="mim-text-font">
North, K. N., Fulton, A. B., Whiteman, D. A. H.
<strong>Identical twins with Cohen syndrome.</strong>
Am. J. Med. Genet. 58: 54-58, 1995.
[PubMed: 7573157]
[Full Text: https://doi.org/10.1002/ajmg.1320580112]
</p>
</li>
<li>
<p class="mim-text-font">
Okamoto, N., Hatsukawa, Y., Arai, H., Goto, M.
<strong>Cohen syndrome with high urinary excretion of hyaluronic acid.</strong>
Am. J. Med. Genet. 76: 387-388, 1998.
[PubMed: 9556296]
</p>
</li>
<li>
<p class="mim-text-font">
Olivieri, O., Lombardi, S., Russo, C., Corrocher, R.
<strong>Increased neutrophil adhesive capability in Cohen syndrome, an autosomal recessive disorder associated with granulocytopenia.</strong>
Haematologica 83: 778-782, 1998.
[PubMed: 9825573]
</p>
</li>
<li>
<p class="mim-text-font">
Parri, V., Katzaki, E., Uliana, V., Scionti, F., Tita, R., Artuso, R., Longo, I., Boschloo, R., Vijzelaar, R., Selecorni, A., Brancati, F., Dallapiccola, B., and 15 others.
<strong>High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.</strong>
Europ. J. Hum. Genet. 18: 1133-1140, 2010.
[PubMed: 20461111]
[Full Text: https://doi.org/10.1038/ejhg.2010.59]
</p>
</li>
<li>
<p class="mim-text-font">
Rivera-Brugues, N., Albrecht, B., Wieczorek, D., Schmidt, H., Keller, T., Gohring, I., Ekici, A. B., Tzschach, A., Garshasbi, M., Franke, K., Klopp, N., Wichmann, H.-E., Meitinger, T., Strom, T. M., Hempel, M.
<strong>Cohen syndrome diagnosis using whole genome arrays.</strong>
J. Med. Genet. 48: 136-140, 2011.
[PubMed: 20921020]
[Full Text: https://doi.org/10.1136/jmg.2010.082206]
</p>
</li>
<li>
<p class="mim-text-font">
Sack, J., Friedman, E.
<strong>Cardiac involvement in the Cohen syndrome: a case report.</strong>
Clin. Genet. 17: 317-319, 1980.
[PubMed: 7438489]
[Full Text: https://doi.org/10.1111/j.1399-0004.1980.tb00156.x]
</p>
</li>
<li>
<p class="mim-text-font">
Sack, J., Friedman, E.
<strong>The Cohen syndrome in Israel.</strong>
Israel J. Med. Sci. 22: 766-770, 1986.
[PubMed: 2432032]
</p>
</li>
<li>
<p class="mim-text-font">
Schlichtemeier, T. L., Tomlinson, G. E., Kamen, B. A., Waber, L. J., Wilson, G. N.
<strong>Multiple coagulation defects and the Cohen syndrome.</strong>
Clin. Genet. 45: 212-216, 1994.
[PubMed: 8062442]
[Full Text: https://doi.org/10.1111/j.1399-0004.1994.tb04026.x]
</p>
</li>
<li>
<p class="mim-text-font">
Seifert, W., Holder-Espinasse, M., Spranger, S., Hoeltzenbein, M., Rossier, E., Dollfus, H., Lacombe, D., Verloes, A., Chrzanowska, K. H., Maegawa, G. H. B., Chitayat, D., Kotzot, D., Huhle, D., Meinecke, P., Albrecht, B., Mathijssen, I., Leheup, B., Raile, K., Hennies, H. C., Horn, D.
<strong>Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome. (Letter)</strong>
J. Med. Genet. 43: e22, 2006. Note: Electronic Article.
[PubMed: 16648375]
[Full Text: https://doi.org/10.1136/jmg.2005.039867]
</p>
</li>
<li>
<p class="mim-text-font">
Steinlein, O., Tariverdian, G., Boll, H. U., Vogel, F.
<strong>Tapetoretinal degeneration in brothers with apparent Cohen syndrome: nosology with Mirhosseini-Holmes-Walton syndrome.</strong>
Am. J. Med. Genet. 41: 196-200, 1991.
[PubMed: 1785634]
[Full Text: https://doi.org/10.1002/ajmg.1320410213]
</p>
</li>
<li>
<p class="mim-text-font">
Tahvanainen, E., Norio, R., Karila, E., Ranta, S., Weissenbach, J., Sistonen, P., de la Chapelle, A.
<strong>Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis.</strong>
Nature Genet. 7: 201-204, 1994.
[PubMed: 7920642]
[Full Text: https://doi.org/10.1038/ng0694-201]
</p>
</li>
<li>
<p class="mim-text-font">
Waite, A., Somer, M., O'Driscoll, M., Millen, K., Manson, F. D. C., Chandler, K. E.
<strong>Cerebellar hypoplasia and Cohen syndrome: a confirmed association. (Letter)</strong>
Am. J. Med. Genet. 152A: 2390-2393, 2010.
[PubMed: 20683995]
[Full Text: https://doi.org/10.1002/ajmg.a.33569]
</p>
</li>
<li>
<p class="mim-text-font">
Warburg, M., Pedersen, S. A., Horlyk, H.
<strong>The Cohen syndrome: retinal lesions and granulocytopenia.</strong>
Ophthalmic Paediat. Genet. 11: 7-13, 1990.
[PubMed: 2348983]
[Full Text: https://doi.org/10.3109/13816819009012943]
</p>
</li>
<li>
<p class="mim-text-font">
Wood, S., Ben Othmane, K., Bergerheim, U. S. R., Blanton, S. H., Bookstein, R., Clarke, R. A., Daiger, S. P., Donis-Keller, H., Drayna, D., Kumar, S., Leach, R. J., Ludecke, H.-J., and 9 others.
<strong>Report of the first international workshop on human chromosome 8 mapping.</strong>
Cytogenet. Cell Genet. 64: 134-141, 1993.
[PubMed: 8404033]
</p>
</li>
<li>
<p class="mim-text-font">
Young, I. D., Moore, J. R.
<strong>Intrafamilial variation in Cohen syndrome.</strong>
J. Med. Genet. 24: 488-492, 1987.
[PubMed: 3656371]
[Full Text: https://doi.org/10.1136/jmg.24.8.488]
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Marla J. F. O&#x27;Neill - updated : 04/11/2016<br>Cassandra L. Kniffin - updated : 8/6/2015<br>Carol A. Bocchini - updated : 3/27/2015<br>Marla J. F. O&#x27;Neill - updated : 5/30/2014<br>Cassandra L. Kniffin - updated : 6/15/2011<br>Cassandra L. Kniffin - updated : 2/23/2011<br>Marla J. F. O&#x27;Neill - updated : 11/9/2010<br>Cassandra L. Kniffin - updated : 12/8/2008<br>Cassandra L. Kniffin - updated : 5/5/2008<br>Marla J. F. O&#x27;Neill - updated : 9/14/2006<br>Marla J. F. O&#x27;Neill - updated : 7/21/2004<br>Victor A. McKusick - updated : 6/30/2004<br>Victor A. McKusick - updated : 4/22/2004<br>Marla J. F. O&#x27;Neill - updated : 1/12/2004<br>Cassandra L. Kniffin - reorganized : 5/22/2003<br>Victor A. McKusick - updated : 5/21/2003<br>Victor A. McKusick - updated : 3/3/2003<br>Victor A. McKusick - updated : 11/25/2002<br>Sonja A. Rasmussen - updated : 8/23/2001<br>Sonja A. Rasmussen - updated : 7/17/2000<br>Victor A. McKusick - updated : 9/8/1999<br>Victor A. McKusick - updated : 8/30/1999<br>Victor A. McKusick - updated : 6/2/1999<br>Victor A. McKusick - updated : 2/27/1999<br>Victor A. McKusick - updated : 4/20/1998<br>Victor A. McKusick - updated : 10/30/1997<br>Victor A. McKusick - updated : 10/10/1997
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Victor A. McKusick : 6/3/1986
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