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<title>
Entry
- #614563 - CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 13; CDCBM13
- OMIM
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<span class="h4">#614563</span>
<br />
<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/614563"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS614039"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#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=CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="http://www.informatics.jax.org/disease/614563" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
<div><a href="https://wormbase.org/resources/disease/DOID:0070043" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
</span>
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</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>ORPHA:</strong> 178469<br />
<strong>DO:</strong> 0070043<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
614563
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 13; CDCBM13
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 13, FORMERLY; MRD13, FORMERLY<br />
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, FORMERLY<br />
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, WITH NEURONAL MIGRATION DEFECTS, FORMERLY
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/559?start=-3&limit=10&highlight=559">
14q32.31
</a>
</span>
</td>
<td>
<span class="mim-font">
Cortical dysplasia, complex, with other brain malformations 13
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614563"> 614563 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
DYNC1H1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600112"> 600112 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/614563" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS614039" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
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&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/614563" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/614563" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Head </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Microcephaly (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551563</a>, <a href="https://bioportal.bioontology.org/search?q=C0025958&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025958</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Microcephaly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Prominent forehead (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837260</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011220" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011220</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011220" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011220</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=a2091161c29564b62e12b608022a4044" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Forehead,Prominent-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=a2091161c29564b62e12b608022a4044&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Facial dysmorphism, mild (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749206&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749206</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248200007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248200007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398302004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398302004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32003007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32003007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398206004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398206004</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001999" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001999</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Small hands (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299032009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299032009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0575802&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0575802</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200055" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200055</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200055" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200055</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Foot deformities (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/229844004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">229844004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016506&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016506</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001760" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001760</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001760" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001760</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Global developmental delay <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/224958001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">224958001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F88</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0557874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0557874</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span><br /> -
Seizures, generalized <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246545002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246545002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234533&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234533</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002197" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002197</a>]</span><br /> -
Focal seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29753000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29753000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0751495&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0751495</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007359" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007359</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007359" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007359</a>]</span><br /> -
Spastic tetraplegia (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/192965001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">192965001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426970&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426970</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002510</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002510</a>]</span><br /> -
Abnormal gait <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22325002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22325002</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/781.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">781.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0575081&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0575081</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001288" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001288</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001288" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001288</a>]</span><br /> -
Malformations of cortical development <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1955869&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1955869</a>]</span><br /> -
Pachygyria, usually posterior <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3808508&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3808508</a>]</span><br /> -
Polymicrogyria, usually frontal (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3808509&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3808509</a>]</span><br /> -
Nodular heterotopia (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253151003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253151003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0431378&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0431378</a>]</span><br /> -
Thin corpus callosum (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5441562&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441562</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033725" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033725</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033725" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033725</a>]</span><br /> -
Dysmorphic basal ganglia (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3279679&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3279679</a>]</span><br /> -
Cerebellar hypoplasia (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16026008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16026008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266470&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266470</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001321" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001321</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001321" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001321</a>]</span><br /> -
Brainstem hypoplasia (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842688&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842688</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002365</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002365</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Peripheral Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Axonal neuropathy (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60703000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60703000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0270921&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0270921</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003477" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003477</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003477" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003477</a>]</span><br /> -
Hyporeflexia (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/835279003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">835279003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405946002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405946002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0700078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700078</a>, <a href="https://bioportal.bioontology.org/search?q=C0151888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151888</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001265</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001315</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001265</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Behavioral Psychiatric Manifestations </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Autistic features (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846135&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846135</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000729" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000729</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Most patients have de novo mutations<br /> -
Dysmorphic features are mild or variable<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the dynein, cytoplasmic 1, heavy chain 1 gene (DYNC1H1, <a href="/entry/600112#0002">600112.0002</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Cortical dysplasia, complex, with other brain malformations
- <a href="/phenotypicSeries/PS614039">PS614039</a>
- 15 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/411?start=-3&limit=10&highlight=411"> 2p12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618174"> Cortical dysplasia, complex, with other brain malformations 9 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618174"> 618174 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114025"> CTNNA2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114025"> 114025 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/681?start=-3&limit=10&highlight=681"> 2q23.1-q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615282"> Cortical dysplasia, complex, with other brain malformations 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615282"> 615282 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604593"> KIF5C </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604593"> 604593 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/196?start=-3&limit=10&highlight=196"> 5q12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615411"> Cortical dysplasia, complex, with other brain malformations 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615411"> 615411 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602591"> KIF2A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602591"> 602591 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/22?start=-3&limit=10&highlight=22"> 6p25.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615763"> Cortical dysplasia, complex, with other brain malformations 5 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615763"> 615763 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615101"> TUBB2A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615101"> 615101 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/23?start=-3&limit=10&highlight=23"> 6p25.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610031"> Cortical dysplasia, complex, with other brain malformations 7 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610031"> 610031 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612850"> TUBB2B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612850"> 612850 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/283?start=-3&limit=10&highlight=283"> 6p21.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615771"> Cortical dysplasia, complex, with other brain malformations 6 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615771"> 615771 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191130"> TUBB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191130"> 191130 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/643?start=-3&limit=10&highlight=643"> 9q34.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620316"> Cortical dysplasia, complex, with other brain malformations 12 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620316"> 620316 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613774"> CAMSAP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613774"> 613774 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/676?start=-3&limit=10&highlight=676"> 10q26.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618737"> Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618737"> 618737 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617817"> TUBGCP2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617817"> 617817 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/559?start=-3&limit=10&highlight=559"> 14q32.31 </a>
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<a href="/entry/614563"> Cortical dysplasia, complex, with other brain malformations 13 </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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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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<a href="/entry/614563"> 614563 </a>
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<a href="/entry/600112"> DYNC1H1 </a>
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<a href="/entry/600112"> 600112 </a>
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<a href="/geneMap/14/588?start=-3&limit=10&highlight=588"> 14q32.33 </a>
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<span class="mim-font">
<a href="/entry/620156"> Cortical dysplasia, complex, with other brain malformations 11 </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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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<a href="/geneMap/16/489?start=-3&limit=10&highlight=489"> 16q21 </a>
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<a href="/entry/606854"> Cortical dysplasia, complex, with other brain malformations 14A, (bilateral frontoparietal) </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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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<a href="/entry/604110"> ADGRG1 </a>
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<a href="/geneMap/16/489?start=-3&limit=10&highlight=489"> 16q21 </a>
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<a href="/entry/615752"> Cortical dysplasia, complex, with other brain malformations 14B, (bilateral perisylvian) </a>
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<a href="/entry/615752"> 615752 </a>
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<a href="/entry/604110"> ADGRG1 </a>
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<a href="/entry/604110"> 604110 </a>
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<a href="/geneMap/16/758?start=-3&limit=10&highlight=758"> 16q24.3 </a>
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<span class="mim-font">
<a href="/entry/614039"> Cortical dysplasia, complex, with other brain malformations 1 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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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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<a href="/entry/614039"> 614039 </a>
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<a href="/entry/602661"> TUBB3 </a>
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<a href="/entry/602661"> 602661 </a>
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<span class="mim-font">
<a href="/geneMap/17/585?start=-3&limit=10&highlight=585"> 17q21.2 </a>
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<span class="mim-font">
<a href="/entry/615412"> Cortical dysplasia, complex, with other brain malformations 4 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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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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<a href="/entry/615412"> 615412 </a>
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<a href="/entry/191135"> TUBG1 </a>
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<span class="mim-font">
<a href="/entry/191135"> 191135 </a>
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<a href="/geneMap/19/55?start=-3&limit=10&highlight=55"> 19p13.3 </a>
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<span class="mim-font">
<a href="/entry/618677"> Cortical dysplasia, complex, with other brain malformations 10 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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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<a href="/entry/618677"> 618677 </a>
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<a href="/entry/612034"> APC2 </a>
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<span class="mim-font">
<a href="/entry/612034"> 612034 </a>
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<p>A number sign (#) is used with this entry because of evidence that complex cortical dysplasia with other brain malformations-13 (CDCBM13) is caused by heterozygous mutation in the DYNC1H1 gene (<a href="/entry/600112">600112</a>) on chromosome 14q32.</p>
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<a id="description" class="mim-anchor"></a>
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<strong>Description</strong>
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<p>Complex cortical dysplasia with other brain malformations-13 (CDCBM13) is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development. Brain imaging shows variable neuronal migration defects resulting in cortical malformations, including pachygyria. More variable features include early-onset seizures and dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait, hyporeflexia, and foot deformities (summary by <a href="#6" class="mim-tip-reference" title="Willemsen, M. H., Vissers, L. E. L., Willemsen, M. A. A. P., van Bon, B. W. M., Kroes, T., de Ligt, J., de Vries, B. B., Schoots, J., Lugtenberg, D., Hamel, B. C. J., van Bokhoven, H., Brunner, H. G., Veltman, J. A., Kleefstra, T. &lt;strong&gt;Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.&lt;/strong&gt; J. Med. Genet. 49: 179-183, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22368300/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22368300&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmedgenet-2011-100542&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22368300">Willemsen et al., 2012</a> and <a href="#3" class="mim-tip-reference" title="Poirier, K., Lebrun, N., Broix, L., Tian, G., Saillour, Y., Boscheron, C., Parrini, E., Valence, S., Saint Pierre, B., Oger, M., Lacombe, D., Genevieve, D., and 23 others. &lt;strong&gt;Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.&lt;/strong&gt; Nature Genet. 45: 639-647, 2013. Note: Erratum: Nature Genet. 45: 962 only, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23603762/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23603762&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=23603762[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.2613&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23603762">Poirier et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23603762+22368300" 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>For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (<a href="/entry/614039">614039</a>).</p>
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<p><a href="#4" class="mim-tip-reference" title="Vissers, L. E. L. M., de Ligt, J., Gilissen, C., Janssen, I., Steehouwer, M., de Vries, P., van Lier, B., Arts, P., Wieskamp, N., del Rosario, M., van Bon, B. W. M., Hoischen, A., de Vries, B. B. A., Brunner, H. G., Veltman, J. A. &lt;strong&gt;A de novo paradigm for mental retardation.&lt;/strong&gt; Nature Genet. 42: 1109-1112, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21076407/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21076407&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.712&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21076407">Vissers et al. (2010)</a> reported a 4-year-old boy with global developmental delay. He showed hypotonia at age 6 months, followed by delayed psychomotor development. Mild dysmorphic features included prominent forehead, plagiocephaly, hypotonic face with downslanting palpebral fissures, and short, broad hands and feet. Brain MRI was reported as normal. His parents were unaffected. Follow-up of the patient at age 6 years by <a href="#6" class="mim-tip-reference" title="Willemsen, M. H., Vissers, L. E. L., Willemsen, M. A. A. P., van Bon, B. W. M., Kroes, T., de Ligt, J., de Vries, B. B., Schoots, J., Lugtenberg, D., Hamel, B. C. J., van Bokhoven, H., Brunner, H. G., Veltman, J. A., Kleefstra, T. &lt;strong&gt;Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.&lt;/strong&gt; J. Med. Genet. 49: 179-183, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22368300/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22368300&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmedgenet-2011-100542&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22368300">Willemsen et al. (2012)</a> noted that he had hypotonia, hyporeflexia, and broad-based waddling gait with toe walking. Reevaluation of brain MRI showed signs of bilateral cortical malformation with deficient gyration of the frontal lobes and an area suggestive of focal cortical dysplasia. <a href="#6" class="mim-tip-reference" title="Willemsen, M. H., Vissers, L. E. L., Willemsen, M. A. A. P., van Bon, B. W. M., Kroes, T., de Ligt, J., de Vries, B. B., Schoots, J., Lugtenberg, D., Hamel, B. C. J., van Bokhoven, H., Brunner, H. G., Veltman, J. A., Kleefstra, T. &lt;strong&gt;Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.&lt;/strong&gt; J. Med. Genet. 49: 179-183, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22368300/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22368300&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmedgenet-2011-100542&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22368300">Willemsen et al. (2012)</a> also reported a 51-year-old woman with severe mental retardation and an inability to walk or speak. She had short stature, microcephaly, clubfeet, and small hands and feet with short toes. Craniofacial features included brachycephaly, prominent forehead, hypertelorism, deep-set eyes, wide mouth with everted lower lip, and downturned corners of the mouth. She developed generalized seizures at age 3 years. Other features included kyphoscoliosis, spastic tetraplegia, and swallowing difficulties. Cerebral CT scan at the age 46 years showed enlarged ventricles and clear signs of cortical malformation with wide opercular regions and an abnormal flat cortex with only a few simple and shallow sulci; MRI scan was not possible. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21076407+22368300" 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="Poirier, K., Lebrun, N., Broix, L., Tian, G., Saillour, Y., Boscheron, C., Parrini, E., Valence, S., Saint Pierre, B., Oger, M., Lacombe, D., Genevieve, D., and 23 others. &lt;strong&gt;Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.&lt;/strong&gt; Nature Genet. 45: 639-647, 2013. Note: Erratum: Nature Genet. 45: 962 only, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23603762/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23603762&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=23603762[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.2613&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23603762">Poirier et al. (2013)</a> reported 8 unrelated patients with moderate to severely impaired intellectual development associated with cortical brain malformations on MRI. All but 1 had seizures, most of early onset. Three had microcephaly, 3 were bedridden with spastic tetraplegia, 2 were described as having 'awkwardness' on neurologic examination, and 3 patients had foot deformities consistent with axonal neuropathy. Brain MRI showed predominantly posterior pachygyria, and some patients also had frontal polymicrogyria or nodular heterotopia. Several patients also had other brain abnormalities, including dysmorphic basal ganglia and hypoplasia of the corpus callosum, brainstem, and/or cerebellum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23603762" 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 majority of reported patients with CDCBM13 had de novo mutations in the DYNC1H1 gene, consistent with sporadic occurrence of the disorder. One family with a mild phenotype showed autosomal dominant inheritance (<a href="#3" class="mim-tip-reference" title="Poirier, K., Lebrun, N., Broix, L., Tian, G., Saillour, Y., Boscheron, C., Parrini, E., Valence, S., Saint Pierre, B., Oger, M., Lacombe, D., Genevieve, D., and 23 others. &lt;strong&gt;Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.&lt;/strong&gt; Nature Genet. 45: 639-647, 2013. Note: Erratum: Nature Genet. 45: 962 only, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23603762/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23603762&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=23603762[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.2613&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23603762">Poirier et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23603762" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Molecular Genetics</strong>
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<p>By family-based exome sequencing of 10 case-parent trios with global developmental delay, <a href="#4" class="mim-tip-reference" title="Vissers, L. E. L. M., de Ligt, J., Gilissen, C., Janssen, I., Steehouwer, M., de Vries, P., van Lier, B., Arts, P., Wieskamp, N., del Rosario, M., van Bon, B. W. M., Hoischen, A., de Vries, B. B. A., Brunner, H. G., Veltman, J. A. &lt;strong&gt;A de novo paradigm for mental retardation.&lt;/strong&gt; Nature Genet. 42: 1109-1112, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21076407/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21076407&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.712&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21076407">Vissers et al. (2010)</a> identified a de novo heterozygous mutation in the DYNC1H1 gene (H3822P; <a href="/entry/600112#0002">600112.0002</a>) in 1 patient. <a href="#6" class="mim-tip-reference" title="Willemsen, M. H., Vissers, L. E. L., Willemsen, M. A. A. P., van Bon, B. W. M., Kroes, T., de Ligt, J., de Vries, B. B., Schoots, J., Lugtenberg, D., Hamel, B. C. J., van Bokhoven, H., Brunner, H. G., Veltman, J. A., Kleefstra, T. &lt;strong&gt;Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.&lt;/strong&gt; J. Med. Genet. 49: 179-183, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22368300/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22368300&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmedgenet-2011-100542&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22368300">Willemsen et al. (2012)</a> identified a second de novo heterozygous mutation in the DYNC1H1 gene (E1518K; <a href="/entry/600112#0003">600112.0003</a>) in a 51-year-old woman with severe intellectual disability since infancy and an inability to walk or speak. <a href="#6" class="mim-tip-reference" title="Willemsen, M. H., Vissers, L. E. L., Willemsen, M. A. A. P., van Bon, B. W. M., Kroes, T., de Ligt, J., de Vries, B. B., Schoots, J., Lugtenberg, D., Hamel, B. C. J., van Bokhoven, H., Brunner, H. G., Veltman, J. A., Kleefstra, T. &lt;strong&gt;Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.&lt;/strong&gt; J. Med. Genet. 49: 179-183, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22368300/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22368300&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmedgenet-2011-100542&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22368300">Willemsen et al. (2012)</a> noted that DYNC1H1 interacts with LIS1 (<a href="/entry/601545">601545</a>), haploinsufficiency of which results in the severe neuronal migration disorder lissencephaly-1 (<a href="/entry/607432">607432</a>), and that Dync1h1 mutant mice show neuronal migration defects (<a href="#2" class="mim-tip-reference" title="Ori-McKenney, K. M., Vallee, R. B. &lt;strong&gt;Neuronal migration defects in the Loa dynein mutant mouse.&lt;/strong&gt; Neural Dev. 6: 26, 2011. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21612657/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21612657&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=21612657[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1186/1749-8104-6-26&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21612657">Ori-McKenney and Vallee, 2011</a>), providing evidence of the pathogenicity of the mutations. <a href="#6" class="mim-tip-reference" title="Willemsen, M. H., Vissers, L. E. L., Willemsen, M. A. A. P., van Bon, B. W. M., Kroes, T., de Ligt, J., de Vries, B. B., Schoots, J., Lugtenberg, D., Hamel, B. C. J., van Bokhoven, H., Brunner, H. G., Veltman, J. A., Kleefstra, T. &lt;strong&gt;Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.&lt;/strong&gt; J. Med. Genet. 49: 179-183, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22368300/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;22368300&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmedgenet-2011-100542&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="22368300">Willemsen et al. (2012)</a> also noted that their 2 patients showed variable signs consistent with peripheral neuropathy and that some patients with CMT2O (<a href="/entry/614228">614228</a>) (<a href="#5" class="mim-tip-reference" title="Weedon, M. N., Hastings, R., Caswell, R., Xie, W., Paszkiewicz, K., Antoniadi, T., Williams, M., King, C., Greenhalgh, L., Newbury-Ecob, R., Ellard, S. &lt;strong&gt;Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.&lt;/strong&gt; Am. J. Hum. Genet. 89: 308-312, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21820100/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21820100&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=21820100[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2011.07.002&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21820100">Weedon et al., 2011</a>) carrying a DYNC1H1 mutation showed learning difficulties, indicating that DYNC1H1 mutations may result in a broad neurologic phenotypic spectrum. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21820100+21076407+21612657+22368300" 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="Poirier, K., Lebrun, N., Broix, L., Tian, G., Saillour, Y., Boscheron, C., Parrini, E., Valence, S., Saint Pierre, B., Oger, M., Lacombe, D., Genevieve, D., and 23 others. &lt;strong&gt;Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.&lt;/strong&gt; Nature Genet. 45: 639-647, 2013. Note: Erratum: Nature Genet. 45: 962 only, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23603762/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23603762&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=23603762[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.2613&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23603762">Poirier et al. (2013)</a> identified 8 different de novo heterozygous mutations in the DYNC1H1 gene (see, e.g., <a href="/entry/600112#0007">600112.0007</a>-<a href="/entry/600112#0009">600112.0009</a>) in 8 unrelated patients ascertained for evaluation due to malformations of cortical development. Mutations in the first several patients were found by whole-exome sequencing, whereas subsequent patients were identified by direct sequencing of this gene in a larger cohort of affected individuals. In vitro functional expression studies of 2 of the variants showed that the mutant proteins had decreased microtubule binding affinity compared to wildtype. In addition, there was 1 family in which a mother and her 2 children carried a missense variant (K3241T): 1 of the children had mild intellectual disability, but the mother and the other child had normal cognition. All 3 were normocephalic, showed posterior pachygyria, and had focal seizures. No functional studies were performed on the K3241T variant, which occurred at a nonconserved residue. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23603762" 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="Jamuar, S. S., Lam, A. N., Kircher, M., D&#x27;Gama, A. M., Wang, J., Barry, B. J., Zhang, X., Hill, R. S., Partlow, J. N., Rozzo, A., Servattalab, S., Mehta, B. K., and 20 others. &lt;strong&gt;Somatic mutations in cerebral cortical malformations.&lt;/strong&gt; New Eng. J. Med. 371: 733-743, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25140959/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;25140959&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=25140959[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJMoa1314432&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="25140959">Jamuar et al. (2014)</a> used a customized panel of known and candidate genes associated with brain malformations to apply targeted high-coverage sequencing (depth greater than or equal to 200x) to leukocyte-derived DNA samples from 158 individuals with brain malformations. They found potentially causal mutations in the candidate gene DYNC1H1 in 2 individuals with pachygyria; in a parallel study they had found de novo mutations in DYNC1H1 in 2 other individuals with pachygyria. The 4 individuals had strikingly similar MRI findings, with posterior-predominant pachygyria, thickened cortex in the perisylvian region, and mildly dysmorphic corpus callosum. One of the individuals identified in the report of <a href="#1" class="mim-tip-reference" title="Jamuar, S. S., Lam, A. N., Kircher, M., D&#x27;Gama, A. M., Wang, J., Barry, B. J., Zhang, X., Hill, R. S., Partlow, J. N., Rozzo, A., Servattalab, S., Mehta, B. K., and 20 others. &lt;strong&gt;Somatic mutations in cerebral cortical malformations.&lt;/strong&gt; New Eng. J. Med. 371: 733-743, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25140959/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;25140959&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=25140959[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1056/NEJMoa1314432&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="25140959">Jamuar et al. (2014)</a> had onset of seizures at age 5 years and mental and motor retardation. The other had dysarthria and cognitive delay but normal vision, hearing, and head circumference, and no seizures. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25140959" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
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<a id="1" class="mim-anchor"></a>
<a id="Jamuar2014" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Jamuar, S. S., Lam, A. N., Kircher, M., D'Gama, A. M., Wang, J., Barry, B. J., Zhang, X., Hill, R. S., Partlow, J. N., Rozzo, A., Servattalab, S., Mehta, B. K., and 20 others.
<strong>Somatic mutations in cerebral cortical malformations.</strong>
New Eng. J. Med. 371: 733-743, 2014.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25140959/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25140959</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25140959[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=25140959" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1056/NEJMoa1314432" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
<a id="Ori-McKenney2011" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ori-McKenney, K. M., Vallee, R. B.
<strong>Neuronal migration defects in the Loa dynein mutant mouse.</strong>
Neural Dev. 6: 26, 2011. Note: Electronic Article.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21612657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21612657</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21612657[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=21612657" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1186/1749-8104-6-26" target="_blank">Full Text</a>]
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<a id="Poirier2013" class="mim-anchor"></a>
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Poirier, K., Lebrun, N., Broix, L., Tian, G., Saillour, Y., Boscheron, C., Parrini, E., Valence, S., Saint Pierre, B., Oger, M., Lacombe, D., Genevieve, D., and 23 others.
<strong>Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.</strong>
Nature Genet. 45: 639-647, 2013. Note: Erratum: Nature Genet. 45: 962 only, 2013.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23603762/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23603762</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23603762[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=23603762" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng.2613" target="_blank">Full Text</a>]
</p>
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<a id="4" class="mim-anchor"></a>
<a id="Vissers2010" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Vissers, L. E. L. M., de Ligt, J., Gilissen, C., Janssen, I., Steehouwer, M., de Vries, P., van Lier, B., Arts, P., Wieskamp, N., del Rosario, M., van Bon, B. W. M., Hoischen, A., de Vries, B. B. A., Brunner, H. G., Veltman, J. A.
<strong>A de novo paradigm for mental retardation.</strong>
Nature Genet. 42: 1109-1112, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21076407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21076407</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21076407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng.712" target="_blank">Full Text</a>]
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<a id="Weedon2011" class="mim-anchor"></a>
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Weedon, M. N., Hastings, R., Caswell, R., Xie, W., Paszkiewicz, K., Antoniadi, T., Williams, M., King, C., Greenhalgh, L., Newbury-Ecob, R., Ellard, S.
<strong>Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.</strong>
Am. J. Hum. Genet. 89: 308-312, 2011.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21820100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21820100</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21820100[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=21820100" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ajhg.2011.07.002" target="_blank">Full Text</a>]
</p>
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<a id="6" class="mim-anchor"></a>
<a id="Willemsen2012" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Willemsen, M. H., Vissers, L. E. L., Willemsen, M. A. A. P., van Bon, B. W. M., Kroes, T., de Ligt, J., de Vries, B. B., Schoots, J., Lugtenberg, D., Hamel, B. C. J., van Bokhoven, H., Brunner, H. G., Veltman, J. A., Kleefstra, T.
<strong>Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.</strong>
J. Med. Genet. 49: 179-183, 2012.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22368300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22368300</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22368300" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmedgenet-2011-100542" target="_blank">Full Text</a>]
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Ada Hamosh - updated : 9/2/2014
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Cassandra L. Kniffin - updated : 6/27/2013
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alopez : 04/07/2023<br>ckniffin : 04/07/2023<br>alopez : 04/01/2022<br>carol : 12/06/2017<br>carol : 11/06/2014<br>alopez : 9/2/2014<br>carol : 8/28/2013<br>carol : 7/9/2013<br>ckniffin : 6/27/2013<br>terry : 5/8/2012<br>alopez : 4/10/2012<br>alopez : 4/10/2012<br>terry : 4/10/2012<br>terry : 4/10/2012<br>ckniffin : 4/9/2012
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<strong>#</strong> 614563
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CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 13; CDCBM13
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<em>Alternative titles; symbols</em>
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INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 13, FORMERLY; MRD13, FORMERLY<br />
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, FORMERLY<br />
MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, WITH NEURONAL MIGRATION DEFECTS, FORMERLY
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<strong>ORPHA:</strong> 178469; &nbsp;
<strong>DO:</strong> 0070043; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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14q32.31
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Cortical dysplasia, complex, with other brain malformations 13
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614563
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Autosomal dominant
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3
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DYNC1H1
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600112
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that complex cortical dysplasia with other brain malformations-13 (CDCBM13) is caused by heterozygous mutation in the DYNC1H1 gene (600112) on chromosome 14q32.</p>
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<strong>Description</strong>
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<p>Complex cortical dysplasia with other brain malformations-13 (CDCBM13) is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development. Brain imaging shows variable neuronal migration defects resulting in cortical malformations, including pachygyria. More variable features include early-onset seizures and dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait, hyporeflexia, and foot deformities (summary by Willemsen et al., 2012 and Poirier et al., 2013). </p><p>For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039).</p>
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<strong>Clinical Features</strong>
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<p>Vissers et al. (2010) reported a 4-year-old boy with global developmental delay. He showed hypotonia at age 6 months, followed by delayed psychomotor development. Mild dysmorphic features included prominent forehead, plagiocephaly, hypotonic face with downslanting palpebral fissures, and short, broad hands and feet. Brain MRI was reported as normal. His parents were unaffected. Follow-up of the patient at age 6 years by Willemsen et al. (2012) noted that he had hypotonia, hyporeflexia, and broad-based waddling gait with toe walking. Reevaluation of brain MRI showed signs of bilateral cortical malformation with deficient gyration of the frontal lobes and an area suggestive of focal cortical dysplasia. Willemsen et al. (2012) also reported a 51-year-old woman with severe mental retardation and an inability to walk or speak. She had short stature, microcephaly, clubfeet, and small hands and feet with short toes. Craniofacial features included brachycephaly, prominent forehead, hypertelorism, deep-set eyes, wide mouth with everted lower lip, and downturned corners of the mouth. She developed generalized seizures at age 3 years. Other features included kyphoscoliosis, spastic tetraplegia, and swallowing difficulties. Cerebral CT scan at the age 46 years showed enlarged ventricles and clear signs of cortical malformation with wide opercular regions and an abnormal flat cortex with only a few simple and shallow sulci; MRI scan was not possible. </p><p>Poirier et al. (2013) reported 8 unrelated patients with moderate to severely impaired intellectual development associated with cortical brain malformations on MRI. All but 1 had seizures, most of early onset. Three had microcephaly, 3 were bedridden with spastic tetraplegia, 2 were described as having 'awkwardness' on neurologic examination, and 3 patients had foot deformities consistent with axonal neuropathy. Brain MRI showed predominantly posterior pachygyria, and some patients also had frontal polymicrogyria or nodular heterotopia. Several patients also had other brain abnormalities, including dysmorphic basal ganglia and hypoplasia of the corpus callosum, brainstem, and/or cerebellum. </p>
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<strong>Inheritance</strong>
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<p>The majority of reported patients with CDCBM13 had de novo mutations in the DYNC1H1 gene, consistent with sporadic occurrence of the disorder. One family with a mild phenotype showed autosomal dominant inheritance (Poirier et al., 2013). </p>
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<strong>Molecular Genetics</strong>
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<p>By family-based exome sequencing of 10 case-parent trios with global developmental delay, Vissers et al. (2010) identified a de novo heterozygous mutation in the DYNC1H1 gene (H3822P; 600112.0002) in 1 patient. Willemsen et al. (2012) identified a second de novo heterozygous mutation in the DYNC1H1 gene (E1518K; 600112.0003) in a 51-year-old woman with severe intellectual disability since infancy and an inability to walk or speak. Willemsen et al. (2012) noted that DYNC1H1 interacts with LIS1 (601545), haploinsufficiency of which results in the severe neuronal migration disorder lissencephaly-1 (607432), and that Dync1h1 mutant mice show neuronal migration defects (Ori-McKenney and Vallee, 2011), providing evidence of the pathogenicity of the mutations. Willemsen et al. (2012) also noted that their 2 patients showed variable signs consistent with peripheral neuropathy and that some patients with CMT2O (614228) (Weedon et al., 2011) carrying a DYNC1H1 mutation showed learning difficulties, indicating that DYNC1H1 mutations may result in a broad neurologic phenotypic spectrum. </p><p>Poirier et al. (2013) identified 8 different de novo heterozygous mutations in the DYNC1H1 gene (see, e.g., 600112.0007-600112.0009) in 8 unrelated patients ascertained for evaluation due to malformations of cortical development. Mutations in the first several patients were found by whole-exome sequencing, whereas subsequent patients were identified by direct sequencing of this gene in a larger cohort of affected individuals. In vitro functional expression studies of 2 of the variants showed that the mutant proteins had decreased microtubule binding affinity compared to wildtype. In addition, there was 1 family in which a mother and her 2 children carried a missense variant (K3241T): 1 of the children had mild intellectual disability, but the mother and the other child had normal cognition. All 3 were normocephalic, showed posterior pachygyria, and had focal seizures. No functional studies were performed on the K3241T variant, which occurred at a nonconserved residue. </p><p>Jamuar et al. (2014) used a customized panel of known and candidate genes associated with brain malformations to apply targeted high-coverage sequencing (depth greater than or equal to 200x) to leukocyte-derived DNA samples from 158 individuals with brain malformations. They found potentially causal mutations in the candidate gene DYNC1H1 in 2 individuals with pachygyria; in a parallel study they had found de novo mutations in DYNC1H1 in 2 other individuals with pachygyria. The 4 individuals had strikingly similar MRI findings, with posterior-predominant pachygyria, thickened cortex in the perisylvian region, and mildly dysmorphic corpus callosum. One of the individuals identified in the report of Jamuar et al. (2014) had onset of seizures at age 5 years and mental and motor retardation. The other had dysarthria and cognitive delay but normal vision, hearing, and head circumference, and no seizures. </p>
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<strong>REFERENCES</strong>
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Jamuar, S. S., Lam, A. N., Kircher, M., D'Gama, A. M., Wang, J., Barry, B. J., Zhang, X., Hill, R. S., Partlow, J. N., Rozzo, A., Servattalab, S., Mehta, B. K., and 20 others.
<strong>Somatic mutations in cerebral cortical malformations.</strong>
New Eng. J. Med. 371: 733-743, 2014.
[PubMed: 25140959]
[Full Text: https://doi.org/10.1056/NEJMoa1314432]
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Ori-McKenney, K. M., Vallee, R. B.
<strong>Neuronal migration defects in the Loa dynein mutant mouse.</strong>
Neural Dev. 6: 26, 2011. Note: Electronic Article.
[PubMed: 21612657]
[Full Text: https://doi.org/10.1186/1749-8104-6-26]
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Poirier, K., Lebrun, N., Broix, L., Tian, G., Saillour, Y., Boscheron, C., Parrini, E., Valence, S., Saint Pierre, B., Oger, M., Lacombe, D., Genevieve, D., and 23 others.
<strong>Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.</strong>
Nature Genet. 45: 639-647, 2013. Note: Erratum: Nature Genet. 45: 962 only, 2013.
[PubMed: 23603762]
[Full Text: https://doi.org/10.1038/ng.2613]
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Vissers, L. E. L. M., de Ligt, J., Gilissen, C., Janssen, I., Steehouwer, M., de Vries, P., van Lier, B., Arts, P., Wieskamp, N., del Rosario, M., van Bon, B. W. M., Hoischen, A., de Vries, B. B. A., Brunner, H. G., Veltman, J. A.
<strong>A de novo paradigm for mental retardation.</strong>
Nature Genet. 42: 1109-1112, 2010.
[PubMed: 21076407]
[Full Text: https://doi.org/10.1038/ng.712]
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Weedon, M. N., Hastings, R., Caswell, R., Xie, W., Paszkiewicz, K., Antoniadi, T., Williams, M., King, C., Greenhalgh, L., Newbury-Ecob, R., Ellard, S.
<strong>Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.</strong>
Am. J. Hum. Genet. 89: 308-312, 2011.
[PubMed: 21820100]
[Full Text: https://doi.org/10.1016/j.ajhg.2011.07.002]
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Willemsen, M. H., Vissers, L. E. L., Willemsen, M. A. A. P., van Bon, B. W. M., Kroes, T., de Ligt, J., de Vries, B. B., Schoots, J., Lugtenberg, D., Hamel, B. C. J., van Bokhoven, H., Brunner, H. G., Veltman, J. A., Kleefstra, T.
<strong>Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.</strong>
J. Med. Genet. 49: 179-183, 2012.
[PubMed: 22368300]
[Full Text: https://doi.org/10.1136/jmedgenet-2011-100542]
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Ada Hamosh - updated : 9/2/2014<br>Cassandra L. Kniffin - updated : 6/27/2013
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