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<title>
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Entry
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- #604213 - CHUDLEY-MCCULLOUGH SYNDROME; CMCS
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- OMIM
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<span class="h4">#604213</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/604213"><strong>Clinical Synopsis</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</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=(CHUDLEY-MCCULLOUGH SYNDROME) OR (GPSM2)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=21500&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/1631" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=604213[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=314597" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/31532659-63b1-40f9-be07-4acb6750ccfc/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 773610007<br />
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<strong>ORPHA:</strong> 314597<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
|
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604213
|
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</span>
|
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</span>
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</div>
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</div>
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<div>
|
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
|
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CHUDLEY-MCCULLOUGH SYNDROME; CMCS
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</span>
|
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</h3>
|
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
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DEAFNESS, SENSORINEURAL, WITH PARTIAL AGENESIS OF THE CORPUS CALLOSUM AND ARACHNOID CYSTS<br />
|
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DEAFNESS, AUTOSOMAL RECESSIVE 82, FORMERLY; DFNB82, FORMERLY
|
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</span>
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
|
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Phenotype
|
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</th>
|
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
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Inheritance
|
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</th>
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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<th>
|
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Gene/Locus
|
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</th>
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<th>
|
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Gene/Locus <br /> MIM number
|
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/1/865?start=-3&limit=10&highlight=865">
|
|
1p13.3
|
|
</a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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Chudley-McCullough syndrome
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/604213"> 604213 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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GPSM2
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/609245"> 609245 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/604213" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/604213" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/604213" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal 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 />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> HEAD & NECK </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Head </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
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|
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- Hydrocephalus (variable) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3276260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3276260</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230745008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230745008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91.9</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000238" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000238</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hearing loss, sensorineural, severe-to-profound <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969213&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969213</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60700002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60700002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.1</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hydrocephalus (variable) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3276260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3276260</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230745008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230745008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91.9</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000238" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000238</a>]</span><br /> -
|
|
Ventriculomegaly (variable) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3551600&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3551600</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413808003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413808003</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002119</a>]</span><br /> -
|
|
Normal psychomotor development in most <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3551601&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3551601</a>]</span><br /> -
|
|
Intellectual disability, mild (uncommon) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86765009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86765009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F70</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026106&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026106</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001256</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001256</a>]</span><br /> -
|
|
Seizures (uncommon) <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 /> -
|
|
Brain MRI shows hypoplasia of the corpus callosum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3276261&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3276261</a>]</span><br /> -
|
|
Partial agenesis of the corpus callosum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253140003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253140003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0431368&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0431368</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001338" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001338</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001338" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001338</a>]</span><br /> -
|
|
Dysplastic corpus callosum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0431369&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0431369</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006989" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006989</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006989" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006989</a>]</span><br /> -
|
|
Cerebellar hypoplasia due to enlarged foramen magnum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3276262&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3276262</a>]</span> <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">[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 /> -
|
|
Focal cerebellar dysplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3276263&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3276263</a>]</span><br /> -
|
|
Obstruction of the foramen of Monro (variable) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3276264&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3276264</a>]</span><br /> -
|
|
Subcortical nodular gray matter heterotopia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315223&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315223</a>]</span><br /> -
|
|
Polymicrogyria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/4945003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">4945003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266464&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266464</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002126</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002126</a>]</span><br /> -
|
|
Arachnoid cysts <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33595009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33595009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/785284009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">785284009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G93.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G93.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0078981&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0078981</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100702" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100702</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100702" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100702</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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- Caused by mutation in the G protein signaling modulator 2 gene (GPSM2, <a href="/entry/609245#0001">609245.0001</a>)<br />
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<p>A number sign (#) is used with this entry because Chudley-McCullough syndrome (CMCS) is caused by homozygous or compound heterozygous mutation in the GPSM2 gene (<a href="/entry/609245">609245</a>) on chromosome 1p13.</p>
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<p>Chudley-McCullough syndrome is an autosomal recessive neurologic disorder characterized by early-onset sensorineural deafness and specific brain anomalies on MRI, including hypoplasia of the corpus callosum, enlarged cysterna magna with mild focal cerebellar dysplasia, and nodular heterotopia. Some patients have hydrocephalus. Psychomotor development is normal (summary by <a href="#1" class="mim-tip-reference" title="Alrashdi, I., Barker, R., Patton, M. A. <strong>Chudley-McCullough syndrome: another report and a brief review of the literature.</strong> Clin. Dysmorph. 20: 107-110, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21127420/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21127420</a>] [<a href="https://doi.org/10.1097/MCD.0b013e328341d007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21127420">Alrashdi et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21127420" 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="#2" class="mim-tip-reference" title="Chudley, A. E., McCullough, C., McCullough, D. W. <strong>Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: a newly described autosomal recessive disorder.</strong> Am. J. Med. Genet. 68: 350-356, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9024571/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9024571</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19970131)68:3<350::aid-ajmg19>3.0.co;2-s" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9024571">Chudley et al. (1997)</a> reported a Canadian Mennonite family in which a brother and sister had hydrocephalus due to obstruction at the foramen of Monro and profound bilateral sensorineural deafness. The parents were second cousins. Autosomal recessive inheritance was proposed on the basis of consanguinity, affected sibs of both sexes, and no evidence of intrauterine infections or other adverse perinatal events. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9024571" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Hendriks, Y. M. C., Laan, L. A. E. M., Vielvoye, G. J., van Haeringen, A. <strong>Bilateral sensorineural deafness, partial agenesis of the corpus callosum, and arachnoid cysts in two sisters.</strong> Am. J. Med. Genet. 86: 183-186, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10449658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10449658</a>]" pmid="10449658">Hendriks et al. (1999)</a> reported 2 sisters with congenital sensorineural hearing loss, partial agenesis of the corpus callosum, arachnoid cysts, and hydrocephalus. Both girls had normal psychomotor development and absence of any distinctive physical features. The parents had normal hearing and no abnormalities on brain MRI. They were nonconsanguineous but from the same small isolated village. The authors suggested that this combination probably represents a new autosomal recessive condition; however, the overlap with disorder in the families reported by <a href="#2" class="mim-tip-reference" title="Chudley, A. E., McCullough, C., McCullough, D. W. <strong>Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: a newly described autosomal recessive disorder.</strong> Am. J. Med. Genet. 68: 350-356, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9024571/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9024571</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19970131)68:3<350::aid-ajmg19>3.0.co;2-s" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9024571">Chudley et al. (1997)</a> suggests otherwise. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9024571+10449658" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Lemire, E. G., Stoeber, G. P. <strong>Chudley-McCullough syndrome: bilateral sensorineural deafness, hydrocephalus, and other structural brain abnormalities.</strong> Am. J. Med. Genet. 90: 127-130, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10607951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10607951</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(20000117)90:2<127::aid-ajmg8>3.0.co;2-e" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10607951">Lemire and Stoeber (2000)</a> presented 2 sisters of Mennonite descent with hydrocephalus and profound bilateral sensorineural deafness. The parents were nonconsanguineous. One sister had hydrocephalus due to obstruction of the foramen of Monro. This sister also had a full mutation in the FMR1 (<a href="/entry/309550">309550</a>) gene, presumed to be an incidental finding. The other sister had no evidence of a foramen of Monro obstruction but had other brain abnormalities, including callosal dysgenesis, gray matter heterotopia, cortical dysplasia, and cerebellar dysgenesis. The authors suggested the eponym Chudley-McCullough syndrome for this condition. They proposed that neuroimaging of the brain be considered in all individuals with profound sensorineural hearing loss, especially those of Mennonite background. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10607951" 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="#10" class="mim-tip-reference" title="Welch, K. O., Tekin, M., Nance, W. E., Blanton, S. H., Arnos, K. S., Pandya, A. <strong>Chudley-McCullough syndrome: expanded phenotype and review of the literature.</strong> Am. J. Med. Genet. 119A: 71-76, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12707963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12707963</a>] [<a href="https://doi.org/10.1002/ajmg.a.10180" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12707963">Welch et al. (2003)</a> described a family in which 2 brothers and a sister had Chudley-McCullough syndrome. Each had profound sensorineural deafness that was either congenital or rapidly progressive in infancy, together with asymmetric dilatation of the lateral ventricle secondary to obstruction of the foramen of Monro. Other brain abnormalities included arachnoid cyst, partial agenesis of the corpus callosum, and abnormalities in the migration of cerebellar cells. <a href="#10" class="mim-tip-reference" title="Welch, K. O., Tekin, M., Nance, W. E., Blanton, S. H., Arnos, K. S., Pandya, A. <strong>Chudley-McCullough syndrome: expanded phenotype and review of the literature.</strong> Am. J. Med. Genet. 119A: 71-76, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12707963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12707963</a>] [<a href="https://doi.org/10.1002/ajmg.a.10180" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12707963">Welch et al. (2003)</a> recommended an audiologic assessment of all children with hydrocephalus, especially those with obstruction of the foramen of Monro. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12707963" 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="Ostergaard, E., Pedersen, V. F., Skriver, E. B., Brondum-Nielsen, K. <strong>Brothers with Chudley-McCullough syndrome: sensorineural deafness, agenesis of the corpus callosum, and other structural brain abnormalities.</strong> Am. J. Med. Genet. 124A: 74-78, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14679590/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14679590</a>] [<a href="https://doi.org/10.1002/ajmg.a.20380" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14679590">Ostergaard et al. (2004)</a> reported 2 Pakistani brothers, born of consanguineous parents, with Chudley-McCullough syndrome. They had partial agenesis of the corpus callosum, colpocephaly, dilatation of the lateral ventricles with macrocephaly, areas of cortical dysplasia, and sensorineural deafness. The older sib had mild mental retardation, whereas the younger sib was developmentally normal. A review of the literature showed that 6 reported patients had sensorineural hearing loss and colpocephaly. Mental retardation and facial dysmorphism were variable. Colpocephaly is characterized by enlargement of the occipital horns of the lateral ventricles with normal frontal horns, which may result from agenesis of the posterior corpus callosum. <a href="#7" class="mim-tip-reference" title="Ostergaard, E., Pedersen, V. F., Skriver, E. B., Brondum-Nielsen, K. <strong>Brothers with Chudley-McCullough syndrome: sensorineural deafness, agenesis of the corpus callosum, and other structural brain abnormalities.</strong> Am. J. Med. Genet. 124A: 74-78, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14679590/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14679590</a>] [<a href="https://doi.org/10.1002/ajmg.a.20380" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14679590">Ostergaard et al. (2004)</a> concluded that the basic developmental defect in Chudley-McCullough syndrome is agenesis of the corpus callosum, not obstruction of the foramen of Monro. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14679590" 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="Matteucci, F., Tarantino, E., Bianchi, M. C., Cingolani, C., Fattori, B., Nacci, A., Ursino, F. <strong>Sensorineural deafness, hydrocephalus and structural brain abnormalities in two sisters: the Chudley-McCullough syndrome.</strong> Am. J. Med. Genet. 140A: 1183-1188, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16642503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16642503</a>] [<a href="https://doi.org/10.1002/ajmg.a.31178" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16642503">Matteucci et al. (2006)</a> reported 2 Italian sisters, born of nonconsanguineous parents, who had profound bilateral sensorineural hearing impairment, macrocephaly, minor dysmorphisms, and borderline psychomotor developmental delay, which the authors believed was related to the hearing defect. Brain MRI revealed all the anomalies variably described in previous reports, including hydrocephalus, partial agenesis of the corpus callosum, interhemispheric cyst, and cerebral and cerebellar cortex dysplasia. <a href="#6" class="mim-tip-reference" title="Matteucci, F., Tarantino, E., Bianchi, M. C., Cingolani, C., Fattori, B., Nacci, A., Ursino, F. <strong>Sensorineural deafness, hydrocephalus and structural brain abnormalities in two sisters: the Chudley-McCullough syndrome.</strong> Am. J. Med. Genet. 140A: 1183-1188, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16642503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16642503</a>] [<a href="https://doi.org/10.1002/ajmg.a.31178" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16642503">Matteucci et al. (2006)</a> proposed that asymmetric enlargement of the ventricles and agenesis of the splenium, together with macrocephaly and deafness, be considered hallmarks of the syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16642503" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Alrashdi, I., Barker, R., Patton, M. A. <strong>Chudley-McCullough syndrome: another report and a brief review of the literature.</strong> Clin. Dysmorph. 20: 107-110, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21127420/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21127420</a>] [<a href="https://doi.org/10.1097/MCD.0b013e328341d007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21127420">Alrashdi et al. (2011)</a> reported a 9-year-old girl, born of consanguineous Lebanese parents, with severe to profound sensorineural hearing loss since early infancy. Brain MRI showed hypoplasia of the corpus callosum, evidence of polymicrogyria in the frontal parasagittal region, foci of subcortical heterotopic gray matter, and hypoplasia of the inferior cerebellar vermis associated with enlargement of the cisterna magna. There were no apparent structural abnormalities of the inner ear structures or cranial nerve VIII. The patient did not have hydrocephalus or obstruction of the foramen of Monro, and she had normal psychomotor development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21127420" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Shahin, H., Walsh, T., Rayyan, A. A., Lee, M. K., Higgins, J., Dickel, D., Lewis, K., Thompson, J., Baker, C., Nord, A. S., Stray, S., Gurwitz, D., Avraham, K. B., King, M.-C., Kanaan, M. <strong>Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families.</strong> Europ. J. Hum. Genet. 18: 407-413, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19888295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19888295</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19888295[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2009.190" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19888295">Shahin et al. (2010)</a> and <a href="#9" class="mim-tip-reference" title="Walsh, T., Shahin, H., Elkan-Miller, T., Lee, M. K., Thornton, A. M., Roeb, W., Abu Rayyan, A., Loulus, S., Avraham, K. B., King, M.-C., Kanaan, M. <strong>Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.</strong> Am. J. Hum. Genet. 87: 90-94, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20602914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20602914</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20602914[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.05.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20602914">Walsh et al. (2010)</a> reported a large consanguineous Palestinian kindred in which 7 individuals had severe bilateral prelingual sensorineural deafness. Vision and vestibular function were normal. <a href="#11" class="mim-tip-reference" title="Yariz, K. O., Walsh, T., Akay, H., Duman, D., Akkaynak, A. C., King, M.-C., Tekin, M. <strong>A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss.</strong> Clin. Genet. 81: 289-293, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21348867/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21348867</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21348867[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2011.01654.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21348867">Yariz et al. (2012)</a> reported a large consanguineous Turkish family in which 3 children presented with congenital severe to profound sensorineural hearing loss and no other abnormalities. The disorder was designated DFNB82. By brain imaging, <a href="#3" class="mim-tip-reference" title="Doherty, D., Chudley, A. E., Coghlan, G., Ishak, G. E., Innes, A. M., Lemire, E. G., Rogers, R. C., Mhanni, A. A., Phelps, I. G., Jones, S. J. M., Zhan, S. H., Fejes, A. P., Shahin, H., Kanaan, M., Akay, H., Tekin, M., FORGE Canada Consortium, Triggs-Raine, B., Zelinski, T. <strong>GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome.</strong> Am. J. Hum. Genet. 90: 1088-1093, 2012. Note: Erratum: Am. J. Hum. Genet. 91: 209 only, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22578326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22578326</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22578326[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.04.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22578326">Doherty et al. (2012)</a> found that 1 of the patients from the Palestinian family described by <a href="#9" class="mim-tip-reference" title="Walsh, T., Shahin, H., Elkan-Miller, T., Lee, M. K., Thornton, A. M., Roeb, W., Abu Rayyan, A., Loulus, S., Avraham, K. B., King, M.-C., Kanaan, M. <strong>Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.</strong> Am. J. Hum. Genet. 87: 90-94, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20602914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20602914</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20602914[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.05.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20602914">Walsh et al. (2010)</a> and all 3 Turkish patients reported by <a href="#11" class="mim-tip-reference" title="Yariz, K. O., Walsh, T., Akay, H., Duman, D., Akkaynak, A. C., King, M.-C., Tekin, M. <strong>A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss.</strong> Clin. Genet. 81: 289-293, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21348867/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21348867</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21348867[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2011.01654.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21348867">Yariz et al. (2012)</a> had brain abnormalities consistent with a diagnosis of CMCS. All 4 patients had a short and thin corpus callosum, evidence of heterotopia and polymicrogyria, and arachnoid cysts; 3 had cerebellar dysplasia. However, none had ventriculomegaly. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22578326+21348867+20602914+19888295" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Doherty, D., Chudley, A. E., Coghlan, G., Ishak, G. E., Innes, A. M., Lemire, E. G., Rogers, R. C., Mhanni, A. A., Phelps, I. G., Jones, S. J. M., Zhan, S. H., Fejes, A. P., Shahin, H., Kanaan, M., Akay, H., Tekin, M., FORGE Canada Consortium, Triggs-Raine, B., Zelinski, T. <strong>GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome.</strong> Am. J. Hum. Genet. 90: 1088-1093, 2012. Note: Erratum: Am. J. Hum. Genet. 91: 209 only, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22578326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22578326</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22578326[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.04.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22578326">Doherty et al. (2012)</a> reported 12 patients from 8 families with Chudley-McCullough syndrome. Five of the families were Mennonite. All had severe to profound hearing loss and characteristic brain imaging findings, including ventriculomegaly, posterior agenesis of the corpus callosum, frontal polymicrogyria, frontal heterotopia, cerebellar dysplasia, and arachnoid cysts. Two patients had well-controlled seizures and 1 had mild to moderate intellectual disability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22578326" 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 Chudley-McCullough syndrome is an autosomal recessive disorder (<a href="#2" class="mim-tip-reference" title="Chudley, A. E., McCullough, C., McCullough, D. W. <strong>Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: a newly described autosomal recessive disorder.</strong> Am. J. Med. Genet. 68: 350-356, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9024571/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9024571</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19970131)68:3<350::aid-ajmg19>3.0.co;2-s" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9024571">Chudley et al., 1997</a>; <a href="#6" class="mim-tip-reference" title="Matteucci, F., Tarantino, E., Bianchi, M. C., Cingolani, C., Fattori, B., Nacci, A., Ursino, F. <strong>Sensorineural deafness, hydrocephalus and structural brain abnormalities in two sisters: the Chudley-McCullough syndrome.</strong> Am. J. Med. Genet. 140A: 1183-1188, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16642503/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16642503</a>] [<a href="https://doi.org/10.1002/ajmg.a.31178" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16642503">Matteucci et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9024571+16642503" 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>In a consanguineous Palestinian family (family CG), originally thought to have nonsyndromic autosomal recessive deafness (DFNB82), <a href="#8" class="mim-tip-reference" title="Shahin, H., Walsh, T., Rayyan, A. A., Lee, M. K., Higgins, J., Dickel, D., Lewis, K., Thompson, J., Baker, C., Nord, A. S., Stray, S., Gurwitz, D., Avraham, K. B., King, M.-C., Kanaan, M. <strong>Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families.</strong> Europ. J. Hum. Genet. 18: 407-413, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19888295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19888295</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19888295[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2009.190" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19888295">Shahin et al. (2010)</a> found linkage to a 3.1-Mb region on chromosome 1p13.3 (lod score of 5.16) between markers <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs17542571;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs17542571</a> and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1936942;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1936942</a>. The region overlapped the DFNB32 locus (<a href="/entry/608653">608653</a>) by 833 kb. Sequencing analysis excluded mutations in 2 candidate genes: VAV3 (<a href="/entry/605541">605541</a>) and SLC25A24 (<a href="/entry/608744">608744</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19888295" 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>In affected members of a consanguineous Palestinian family with profound hearing loss, originally reported by <a href="#8" class="mim-tip-reference" title="Shahin, H., Walsh, T., Rayyan, A. A., Lee, M. K., Higgins, J., Dickel, D., Lewis, K., Thompson, J., Baker, C., Nord, A. S., Stray, S., Gurwitz, D., Avraham, K. B., King, M.-C., Kanaan, M. <strong>Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families.</strong> Europ. J. Hum. Genet. 18: 407-413, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19888295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19888295</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19888295[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2009.190" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19888295">Shahin et al. (2010)</a>, <a href="#9" class="mim-tip-reference" title="Walsh, T., Shahin, H., Elkan-Miller, T., Lee, M. K., Thornton, A. M., Roeb, W., Abu Rayyan, A., Loulus, S., Avraham, K. B., King, M.-C., Kanaan, M. <strong>Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.</strong> Am. J. Hum. Genet. 87: 90-94, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20602914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20602914</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20602914[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.05.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20602914">Walsh et al. (2010)</a> identified a homozygous mutation in the GPSM2 gene (R127X; <a href="/entry/609245#0001">609245.0001</a>). All of the parents were unaffected and heterozygous for the mutation. By homozygosity mapping followed by candidate gene analysis, <a href="#11" class="mim-tip-reference" title="Yariz, K. O., Walsh, T., Akay, H., Duman, D., Akkaynak, A. C., King, M.-C., Tekin, M. <strong>A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss.</strong> Clin. Genet. 81: 289-293, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21348867/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21348867</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21348867[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2011.01654.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21348867">Yariz et al. (2012)</a> identified a homozygous truncating mutation in the GPSM2 gene (Q562X; <a href="/entry/609245#0002">609245.0002</a>) in affected members of a consanguineous Turkish family with congenital hearing loss. All of the parents were unaffected and heterozygous for the mutation. Four patients originally reported to have nonsyndromic deafness by <a href="#9" class="mim-tip-reference" title="Walsh, T., Shahin, H., Elkan-Miller, T., Lee, M. K., Thornton, A. M., Roeb, W., Abu Rayyan, A., Loulus, S., Avraham, K. B., King, M.-C., Kanaan, M. <strong>Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.</strong> Am. J. Hum. Genet. 87: 90-94, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20602914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20602914</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20602914[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2010.05.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20602914">Walsh et al. (2010)</a> and <a href="#11" class="mim-tip-reference" title="Yariz, K. O., Walsh, T., Akay, H., Duman, D., Akkaynak, A. C., King, M.-C., Tekin, M. <strong>A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss.</strong> Clin. Genet. 81: 289-293, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21348867/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21348867</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21348867[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2011.01654.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21348867">Yariz et al. (2012)</a> were found by <a href="#3" class="mim-tip-reference" title="Doherty, D., Chudley, A. E., Coghlan, G., Ishak, G. E., Innes, A. M., Lemire, E. G., Rogers, R. C., Mhanni, A. A., Phelps, I. G., Jones, S. J. M., Zhan, S. H., Fejes, A. P., Shahin, H., Kanaan, M., Akay, H., Tekin, M., FORGE Canada Consortium, Triggs-Raine, B., Zelinski, T. <strong>GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome.</strong> Am. J. Hum. Genet. 90: 1088-1093, 2012. Note: Erratum: Am. J. Hum. Genet. 91: 209 only, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22578326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22578326</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22578326[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.04.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22578326">Doherty et al. (2012)</a> to have neuroimaging abnormalities consistent with a diagnosis of Chudley-McCullough syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22578326+21348867+20602914+19888295" 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 and whole-exome sequencing of patients with Chudley-McCullough syndrome, <a href="#3" class="mim-tip-reference" title="Doherty, D., Chudley, A. E., Coghlan, G., Ishak, G. E., Innes, A. M., Lemire, E. G., Rogers, R. C., Mhanni, A. A., Phelps, I. G., Jones, S. J. M., Zhan, S. H., Fejes, A. P., Shahin, H., Kanaan, M., Akay, H., Tekin, M., FORGE Canada Consortium, Triggs-Raine, B., Zelinski, T. <strong>GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome.</strong> Am. J. Hum. Genet. 90: 1088-1093, 2012. Note: Erratum: Am. J. Hum. Genet. 91: 209 only, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22578326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22578326</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22578326[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.04.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22578326">Doherty et al. (2012)</a> identified homozygous or compound heterozygous mutations in the GPSM2 gene (<a href="/entry/609245#0003">609245.0003</a>-<a href="/entry/609245#0006">609245.0006</a>). There were no apparent genotype/phenotype correlations. <a href="#3" class="mim-tip-reference" title="Doherty, D., Chudley, A. E., Coghlan, G., Ishak, G. E., Innes, A. M., Lemire, E. G., Rogers, R. C., Mhanni, A. A., Phelps, I. G., Jones, S. J. M., Zhan, S. H., Fejes, A. P., Shahin, H., Kanaan, M., Akay, H., Tekin, M., FORGE Canada Consortium, Triggs-Raine, B., Zelinski, T. <strong>GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome.</strong> Am. J. Hum. Genet. 90: 1088-1093, 2012. Note: Erratum: Am. J. Hum. Genet. 91: 209 only, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22578326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22578326</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22578326[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2012.04.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22578326">Doherty et al. (2012)</a> postulated that the disorder results from asymmetric cell divisions in the brain during development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22578326" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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[<a href="https://doi.org/10.1002/(sici)1096-8628(19970131)68:3<350::aid-ajmg19>3.0.co;2-s" target="_blank">Full Text</a>]
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Doherty, D., Chudley, A. E., Coghlan, G., Ishak, G. E., Innes, A. M., Lemire, E. G., Rogers, R. C., Mhanni, A. A., Phelps, I. G., Jones, S. J. M., Zhan, S. H., Fejes, A. P., Shahin, H., Kanaan, M., Akay, H., Tekin, M., FORGE Canada Consortium, Triggs-Raine, B., Zelinski, T.
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<strong>GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome.</strong>
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Am. J. Hum. Genet. 90: 1088-1093, 2012. Note: Erratum: Am. J. Hum. Genet. 91: 209 only, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22578326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22578326</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22578326[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=22578326" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2012.04.008" target="_blank">Full Text</a>]
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<strong>Bilateral sensorineural deafness, partial agenesis of the corpus callosum, and arachnoid cysts in two sisters.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10449658/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10449658</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10449658" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Lemire, E. G., Stoeber, G. P.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10607951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10607951</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10607951" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/(sici)1096-8628(20000117)90:2<127::aid-ajmg8>3.0.co;2-e" target="_blank">Full Text</a>]
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<strong>Sensorineural deafness, hydrocephalus and structural brain abnormalities in two sisters: the Chudley-McCullough syndrome.</strong>
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[<a href="https://doi.org/10.1002/ajmg.a.31178" target="_blank">Full Text</a>]
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<strong>Brothers with Chudley-McCullough syndrome: sensorineural deafness, agenesis of the corpus callosum, and other structural brain abnormalities.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14679590/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14679590</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14679590" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.20380" target="_blank">Full Text</a>]
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Shahin, H., Walsh, T., Rayyan, A. A., Lee, M. K., Higgins, J., Dickel, D., Lewis, K., Thompson, J., Baker, C., Nord, A. S., Stray, S., Gurwitz, D., Avraham, K. B., King, M.-C., Kanaan, M.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19888295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19888295</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19888295[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=19888295" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ejhg.2009.190" target="_blank">Full Text</a>]
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Walsh, T., Shahin, H., Elkan-Miller, T., Lee, M. K., Thornton, A. M., Roeb, W., Abu Rayyan, A., Loulus, S., Avraham, K. B., King, M.-C., Kanaan, M.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20602914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20602914</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20602914[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=20602914" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Chudley-McCullough syndrome: expanded phenotype and review of the literature.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12707963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12707963</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12707963" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Yariz, K. O., Walsh, T., Akay, H., Duman, D., Akkaynak, A. C., King, M.-C., Tekin, M.
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<strong>A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss.</strong>
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Clin. Genet. 81: 289-293, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21348867/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21348867</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21348867[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=21348867" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2011.01654.x" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 7/9/2012
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Cassandra L. Kniffin - updated : 4/28/2011<br>Marla J. F. O'Neill - updated : 10/11/2006<br>Cassandra L. Kniffin - updated : 3/14/2006<br>Victor A. McKusick - updated : 5/15/2003<br>Sonja A. Rasmussen - updated : 6/13/2000
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Sonja A. Rasmussen : 10/5/1999
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carol : 09/28/2016
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carol : 08/13/2015<br>carol : 7/17/2012<br>alopez : 7/12/2012<br>terry : 7/10/2012<br>ckniffin : 7/9/2012<br>wwang : 5/9/2011<br>ckniffin : 4/28/2011<br>carol : 2/7/2011<br>wwang : 10/12/2006<br>terry : 10/11/2006<br>wwang : 3/29/2006<br>ckniffin : 3/14/2006<br>mgross : 3/17/2004<br>tkritzer : 5/20/2003<br>terry : 5/15/2003<br>carol : 6/13/2000<br>carol : 10/6/1999<br>carol : 10/5/1999
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<span class="mim-font">
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<strong>#</strong> 604213
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<h3>
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CHUDLEY-MCCULLOUGH SYNDROME; CMCS
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<em>Alternative titles; symbols</em>
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DEAFNESS, SENSORINEURAL, WITH PARTIAL AGENESIS OF THE CORPUS CALLOSUM AND ARACHNOID CYSTS<br />
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DEAFNESS, AUTOSOMAL RECESSIVE 82, FORMERLY; DFNB82, FORMERLY
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<strong>SNOMEDCT:</strong> 773610007;
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<strong>ORPHA:</strong> 314597;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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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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<span class="mim-font">
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1p13.3
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<span class="mim-font">
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Chudley-McCullough syndrome
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<span class="mim-font">
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604213
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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GPSM2
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<span class="mim-font">
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609245
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because Chudley-McCullough syndrome (CMCS) is caused by homozygous or compound heterozygous mutation in the GPSM2 gene (609245) on chromosome 1p13.</p>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Chudley-McCullough syndrome is an autosomal recessive neurologic disorder characterized by early-onset sensorineural deafness and specific brain anomalies on MRI, including hypoplasia of the corpus callosum, enlarged cysterna magna with mild focal cerebellar dysplasia, and nodular heterotopia. Some patients have hydrocephalus. Psychomotor development is normal (summary by Alrashdi et al., 2011). </p>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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<p>Chudley et al. (1997) reported a Canadian Mennonite family in which a brother and sister had hydrocephalus due to obstruction at the foramen of Monro and profound bilateral sensorineural deafness. The parents were second cousins. Autosomal recessive inheritance was proposed on the basis of consanguinity, affected sibs of both sexes, and no evidence of intrauterine infections or other adverse perinatal events. </p><p>Hendriks et al. (1999) reported 2 sisters with congenital sensorineural hearing loss, partial agenesis of the corpus callosum, arachnoid cysts, and hydrocephalus. Both girls had normal psychomotor development and absence of any distinctive physical features. The parents had normal hearing and no abnormalities on brain MRI. They were nonconsanguineous but from the same small isolated village. The authors suggested that this combination probably represents a new autosomal recessive condition; however, the overlap with disorder in the families reported by Chudley et al. (1997) suggests otherwise. </p><p>Lemire and Stoeber (2000) presented 2 sisters of Mennonite descent with hydrocephalus and profound bilateral sensorineural deafness. The parents were nonconsanguineous. One sister had hydrocephalus due to obstruction of the foramen of Monro. This sister also had a full mutation in the FMR1 (309550) gene, presumed to be an incidental finding. The other sister had no evidence of a foramen of Monro obstruction but had other brain abnormalities, including callosal dysgenesis, gray matter heterotopia, cortical dysplasia, and cerebellar dysgenesis. The authors suggested the eponym Chudley-McCullough syndrome for this condition. They proposed that neuroimaging of the brain be considered in all individuals with profound sensorineural hearing loss, especially those of Mennonite background. </p><p>Welch et al. (2003) described a family in which 2 brothers and a sister had Chudley-McCullough syndrome. Each had profound sensorineural deafness that was either congenital or rapidly progressive in infancy, together with asymmetric dilatation of the lateral ventricle secondary to obstruction of the foramen of Monro. Other brain abnormalities included arachnoid cyst, partial agenesis of the corpus callosum, and abnormalities in the migration of cerebellar cells. Welch et al. (2003) recommended an audiologic assessment of all children with hydrocephalus, especially those with obstruction of the foramen of Monro. </p><p>Ostergaard et al. (2004) reported 2 Pakistani brothers, born of consanguineous parents, with Chudley-McCullough syndrome. They had partial agenesis of the corpus callosum, colpocephaly, dilatation of the lateral ventricles with macrocephaly, areas of cortical dysplasia, and sensorineural deafness. The older sib had mild mental retardation, whereas the younger sib was developmentally normal. A review of the literature showed that 6 reported patients had sensorineural hearing loss and colpocephaly. Mental retardation and facial dysmorphism were variable. Colpocephaly is characterized by enlargement of the occipital horns of the lateral ventricles with normal frontal horns, which may result from agenesis of the posterior corpus callosum. Ostergaard et al. (2004) concluded that the basic developmental defect in Chudley-McCullough syndrome is agenesis of the corpus callosum, not obstruction of the foramen of Monro. </p><p>Matteucci et al. (2006) reported 2 Italian sisters, born of nonconsanguineous parents, who had profound bilateral sensorineural hearing impairment, macrocephaly, minor dysmorphisms, and borderline psychomotor developmental delay, which the authors believed was related to the hearing defect. Brain MRI revealed all the anomalies variably described in previous reports, including hydrocephalus, partial agenesis of the corpus callosum, interhemispheric cyst, and cerebral and cerebellar cortex dysplasia. Matteucci et al. (2006) proposed that asymmetric enlargement of the ventricles and agenesis of the splenium, together with macrocephaly and deafness, be considered hallmarks of the syndrome. </p><p>Alrashdi et al. (2011) reported a 9-year-old girl, born of consanguineous Lebanese parents, with severe to profound sensorineural hearing loss since early infancy. Brain MRI showed hypoplasia of the corpus callosum, evidence of polymicrogyria in the frontal parasagittal region, foci of subcortical heterotopic gray matter, and hypoplasia of the inferior cerebellar vermis associated with enlargement of the cisterna magna. There were no apparent structural abnormalities of the inner ear structures or cranial nerve VIII. The patient did not have hydrocephalus or obstruction of the foramen of Monro, and she had normal psychomotor development. </p><p>Shahin et al. (2010) and Walsh et al. (2010) reported a large consanguineous Palestinian kindred in which 7 individuals had severe bilateral prelingual sensorineural deafness. Vision and vestibular function were normal. Yariz et al. (2012) reported a large consanguineous Turkish family in which 3 children presented with congenital severe to profound sensorineural hearing loss and no other abnormalities. The disorder was designated DFNB82. By brain imaging, Doherty et al. (2012) found that 1 of the patients from the Palestinian family described by Walsh et al. (2010) and all 3 Turkish patients reported by Yariz et al. (2012) had brain abnormalities consistent with a diagnosis of CMCS. All 4 patients had a short and thin corpus callosum, evidence of heterotopia and polymicrogyria, and arachnoid cysts; 3 had cerebellar dysplasia. However, none had ventriculomegaly. </p><p>Doherty et al. (2012) reported 12 patients from 8 families with Chudley-McCullough syndrome. Five of the families were Mennonite. All had severe to profound hearing loss and characteristic brain imaging findings, including ventriculomegaly, posterior agenesis of the corpus callosum, frontal polymicrogyria, frontal heterotopia, cerebellar dysplasia, and arachnoid cysts. Two patients had well-controlled seizures and 1 had mild to moderate intellectual disability. </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The Chudley-McCullough syndrome is an autosomal recessive disorder (Chudley et al., 1997; Matteucci et al., 2006). </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In a consanguineous Palestinian family (family CG), originally thought to have nonsyndromic autosomal recessive deafness (DFNB82), Shahin et al. (2010) found linkage to a 3.1-Mb region on chromosome 1p13.3 (lod score of 5.16) between markers rs17542571 and rs1936942. The region overlapped the DFNB32 locus (608653) by 833 kb. Sequencing analysis excluded mutations in 2 candidate genes: VAV3 (605541) and SLC25A24 (608744). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In affected members of a consanguineous Palestinian family with profound hearing loss, originally reported by Shahin et al. (2010), Walsh et al. (2010) identified a homozygous mutation in the GPSM2 gene (R127X; 609245.0001). All of the parents were unaffected and heterozygous for the mutation. By homozygosity mapping followed by candidate gene analysis, Yariz et al. (2012) identified a homozygous truncating mutation in the GPSM2 gene (Q562X; 609245.0002) in affected members of a consanguineous Turkish family with congenital hearing loss. All of the parents were unaffected and heterozygous for the mutation. Four patients originally reported to have nonsyndromic deafness by Walsh et al. (2010) and Yariz et al. (2012) were found by Doherty et al. (2012) to have neuroimaging abnormalities consistent with a diagnosis of Chudley-McCullough syndrome. </p><p>By homozygosity mapping and whole-exome sequencing of patients with Chudley-McCullough syndrome, Doherty et al. (2012) identified homozygous or compound heterozygous mutations in the GPSM2 gene (609245.0003-609245.0006). There were no apparent genotype/phenotype correlations. Doherty et al. (2012) postulated that the disorder results from asymmetric cell divisions in the brain during development. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Alrashdi, I., Barker, R., Patton, M. A.
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<strong>Chudley-McCullough syndrome: another report and a brief review of the literature.</strong>
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Clin. Dysmorph. 20: 107-110, 2011.
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[PubMed: 21127420]
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[Full Text: https://doi.org/10.1097/MCD.0b013e328341d007]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Chudley, A. E., McCullough, C., McCullough, D. W.
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<strong>Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: a newly described autosomal recessive disorder.</strong>
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Am. J. Med. Genet. 68: 350-356, 1997.
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[PubMed: 9024571]
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[Full Text: https://doi.org/10.1002/(sici)1096-8628(19970131)68:3<350::aid-ajmg19>3.0.co;2-s]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Doherty, D., Chudley, A. E., Coghlan, G., Ishak, G. E., Innes, A. M., Lemire, E. G., Rogers, R. C., Mhanni, A. A., Phelps, I. G., Jones, S. J. M., Zhan, S. H., Fejes, A. P., Shahin, H., Kanaan, M., Akay, H., Tekin, M., FORGE Canada Consortium, Triggs-Raine, B., Zelinski, T.
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<strong>GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome.</strong>
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Am. J. Hum. Genet. 90: 1088-1093, 2012. Note: Erratum: Am. J. Hum. Genet. 91: 209 only, 2012.
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[PubMed: 22578326]
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[Full Text: https://doi.org/10.1016/j.ajhg.2012.04.008]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hendriks, Y. M. C., Laan, L. A. E. M., Vielvoye, G. J., van Haeringen, A.
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<strong>Bilateral sensorineural deafness, partial agenesis of the corpus callosum, and arachnoid cysts in two sisters.</strong>
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Am. J. Med. Genet. 86: 183-186, 1999.
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[PubMed: 10449658]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Lemire, E. G., Stoeber, G. P.
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<strong>Chudley-McCullough syndrome: bilateral sensorineural deafness, hydrocephalus, and other structural brain abnormalities.</strong>
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Am. J. Med. Genet. 90: 127-130, 2000.
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[PubMed: 10607951]
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[Full Text: https://doi.org/10.1002/(sici)1096-8628(20000117)90:2<127::aid-ajmg8>3.0.co;2-e]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Matteucci, F., Tarantino, E., Bianchi, M. C., Cingolani, C., Fattori, B., Nacci, A., Ursino, F.
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<strong>Sensorineural deafness, hydrocephalus and structural brain abnormalities in two sisters: the Chudley-McCullough syndrome.</strong>
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Am. J. Med. Genet. 140A: 1183-1188, 2006.
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[PubMed: 16642503]
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[Full Text: https://doi.org/10.1002/ajmg.a.31178]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Ostergaard, E., Pedersen, V. F., Skriver, E. B., Brondum-Nielsen, K.
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<strong>Brothers with Chudley-McCullough syndrome: sensorineural deafness, agenesis of the corpus callosum, and other structural brain abnormalities.</strong>
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Am. J. Med. Genet. 124A: 74-78, 2004.
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[PubMed: 14679590]
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[Full Text: https://doi.org/10.1002/ajmg.a.20380]
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</p>
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</li>
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<li>
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Shahin, H., Walsh, T., Rayyan, A. A., Lee, M. K., Higgins, J., Dickel, D., Lewis, K., Thompson, J., Baker, C., Nord, A. S., Stray, S., Gurwitz, D., Avraham, K. B., King, M.-C., Kanaan, M.
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<strong>Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families.</strong>
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Europ. J. Hum. Genet. 18: 407-413, 2010.
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[PubMed: 19888295]
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[Full Text: https://doi.org/10.1038/ejhg.2009.190]
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Walsh, T., Shahin, H., Elkan-Miller, T., Lee, M. K., Thornton, A. M., Roeb, W., Abu Rayyan, A., Loulus, S., Avraham, K. B., King, M.-C., Kanaan, M.
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<strong>Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.</strong>
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Am. J. Hum. Genet. 87: 90-94, 2010.
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[PubMed: 20602914]
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[Full Text: https://doi.org/10.1016/j.ajhg.2010.05.010]
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Welch, K. O., Tekin, M., Nance, W. E., Blanton, S. H., Arnos, K. S., Pandya, A.
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<strong>Chudley-McCullough syndrome: expanded phenotype and review of the literature.</strong>
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Am. J. Med. Genet. 119A: 71-76, 2003.
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[PubMed: 12707963]
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[Full Text: https://doi.org/10.1002/ajmg.a.10180]
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Yariz, K. O., Walsh, T., Akay, H., Duman, D., Akkaynak, A. C., King, M.-C., Tekin, M.
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<strong>A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss.</strong>
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Clin. Genet. 81: 289-293, 2012.
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[PubMed: 21348867]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2011.01654.x]
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Cassandra L. Kniffin - updated : 7/9/2012<br>Cassandra L. Kniffin - updated : 4/28/2011<br>Marla J. F. O'Neill - updated : 10/11/2006<br>Cassandra L. Kniffin - updated : 3/14/2006<br>Victor A. McKusick - updated : 5/15/2003<br>Sonja A. Rasmussen - updated : 6/13/2000
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Sonja A. Rasmussen : 10/5/1999
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