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<title>
Entry
- #301044 - DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85
- OMIM
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<span class="h4">#301044</span>
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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/301044"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS308350"> <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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<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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<a href="#molecularGenetics">Molecular Genetics</a>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=(DEVELOPMENTAL EPILEPTIC ENCEPHALOPATHY 85 WITH WITHOUT MIDLINE BRAIN DEFECTS) OR (SMC1A)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=301044[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 class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<div style="display: table-cell;">Animal Models</div>
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<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0070380" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
<div><a href="http://www.informatics.jax.org/disease/301044" 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:0070380" 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>
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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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<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>DO:</strong> 0070380<br />
">ICD+</a>
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<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
301044
</span>
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<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85
</span>
</h3>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
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</p>
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<h4>
<span class="mim-font">
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 85, WITH OR WITHOUT MIDLINE BRAIN DEFECTS; EIEE85
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/325?start=-3&limit=10&highlight=325">
Xp11.22
</a>
</span>
</td>
<td>
<span class="mim-font">
Developmental and epileptic encephalopathy 85, with or without midline brain defects
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/301044"> 301044 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</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">
SMC1A
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300040"> 300040 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/301044" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<a href="/phenotypicSeries/PS308350" class="btn btn-info" role="button"> Phenotypic Series </a>
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<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/301044" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/301044" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- X-linked dominant <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847879&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847879</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001423</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001423</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Height </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Other </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Poor overall growth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552219&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552219</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001510</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Head </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Microcephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551563</a>, <a href="https://bioportal.bioontology.org/search?q=C0025958&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025958</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Microcephaly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Sloping forehead <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857679&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857679</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000340" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000340</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000340" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000340</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=55cd7ed83868b07da866b39707988156" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Forehead,Sloping-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=55cd7ed83868b07da866b39707988156&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">
- Dysmorphic facial features <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>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424503&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424503</a> 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> <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 /> -
Flattened midface <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278797&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278797</a>]</span><br /> -
Bitemporal narrowing <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839758</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000341" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000341</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000341" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000341</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=130363281c65526c396a969f71815381" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Forehead,Narrow-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=130363281c65526c396a969f71815381&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 /> -
Round face <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239479&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239479</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000311" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000311</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000311" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000311</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2ab9bbad3c428d627c2b454902c17fa0" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Face,Round-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=2ab9bbad3c428d627c2b454902c17fa0&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 /> -
Full cheeks <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866231&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866231</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000293" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000293</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000293" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000293</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=85459d10e5df48479ec4a2ec6cfc0455" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Cheeks,Full-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=85459d10e5df48479ec4a2ec6cfc0455&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 /> -
Triangular face <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835884&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835884</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000325" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000325</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000325" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000325</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9b3a4310d8279245cf752e39c5608ddf" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Face,Triangular-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9b3a4310d8279245cf752e39c5608ddf&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 /> -
Smooth philtrum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1142533&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1142533</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000319</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000319</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=64d497514ce8c2250bd637c9cb83892d" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Philtrum,Smooth-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=64d497514ce8c2250bd637c9cb83892d&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 /> -
Short philtrum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861324&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861324</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000322</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=16ecf2e0f23dddf7b8b7cf447ceb827b" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Philtrum,Short-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=16ecf2e0f23dddf7b8b7cf447ceb827b&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Retrognathia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/109515000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">109515000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035353&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035353</a>, <a href="https://bioportal.bioontology.org/search?q=C3494422&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3494422</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000278" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000278</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000278" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000278</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=ede3aa3495baae8accf26d8f779302ba" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Retrognathia-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=ede3aa3495baae8accf26d8f779302ba&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Low-set ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95515009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95515009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239234&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239234</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000369</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000369</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Ear,Low-Set-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931&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 /> -
Posteriorly rotated ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253251006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253251006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0431478&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0431478</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000358" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000358</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000358" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000358</a>]</span><br /> -
Small ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35045004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35045004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/744.23" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">744.23</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0152423&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152423</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008551" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008551</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008551" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008551</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Deep-set eyes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246923005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246923005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423224&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423224</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000490" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000490</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000490" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000490</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=08eb099548b91270db09ad79e8e75da3" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Eye,Deeply_Set-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=08eb099548b91270db09ad79e8e75da3&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Synophrys <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253207002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253207002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0431447&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0431447</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000664" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000664</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000664" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000664</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=d88a284723f3407bf387ee65da76603e" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Synophrys-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=d88a284723f3407bf387ee65da76603e&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 /> -
Arched eyebrows <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868571&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868571</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002553" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002553</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002553" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002553</a>]</span><br /> -
Long eyelashes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853738</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000527" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000527</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000527" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000527</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=672968e227f5a1087f52e88a389a22fc" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Eyelashes,Long-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=672968e227f5a1087f52e88a389a22fc&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 /> -
Hypotelorism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44593008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44593008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424711&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424711</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000601" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000601</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000601" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000601</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9e1b9a0002dbf80898b12acc19faf05e" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Eyes,Closely_Spaced-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9e1b9a0002dbf80898b12acc19faf05e&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 /> -
Upslanting palpebral fissures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246799009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246799009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423109&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423109</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000582" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000582</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000582" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000582</a>]</span><br /> -
Blepharophimosis <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/374.46" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.46</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005744&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005744</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000581</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000581</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0f0375071b81e81be36302aa011b44dc" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Blepharophimosis-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=0f0375071b81e81be36302aa011b44dc&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 /> -
Poor visual contact <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552514</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Nose </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Depressed nasal bridge <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836542&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836542</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005280</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005280</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=7043769fd21a78a413fd758918cdda17" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Nasal_Bridge,Depressed-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=7043769fd21a78a413fd758918cdda17&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 /> -
Thin nose <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249322008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249322008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426422&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426422</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000460" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000460</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000460" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000460</a>]</span><br /> -
Short nose <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854114&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854114</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003196" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003196</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003196" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003196</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=25661c4279536e7705f328dbb0964878" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Nose,Short-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=25661c4279536e7705f328dbb0964878&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Thin upper lip <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865017&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865017</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000219" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000219</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000219" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000219</a>]</span><br /> -
Cleft palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63567004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63567004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87979003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87979003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837218</a>, <a href="https://bioportal.bioontology.org/search?q=C2981150&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2981150</a>, <a href="https://bioportal.bioontology.org/search?q=C2240378&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2240378</a>, <a href="https://bioportal.bioontology.org/search?q=C0008925&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008925</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Teeth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Crowded teeth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12351004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12351004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.31</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040433&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040433</a>, <a href="https://bioportal.bioontology.org/search?q=C4724341&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4724341</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000678</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000678</a>]</span><br /> -
Single central incisor <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/707609006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">707609006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840235&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840235</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006315</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006315</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CARDIOVASCULAR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Heart </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Congenital heart defects (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13213009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13213009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q24.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q24.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/746.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">746.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018798&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018798</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001627" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001627</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001627" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001627</a>]</span><br /> -
Septal defects <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253273004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253273004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5779791&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5779791</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001671" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001671</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001671" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001671</a>]</span><br /> -
Patent foramen ovale <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204317008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204317008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204315000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204315000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.12" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.12</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.11</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/745.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016522&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016522</a>, <a href="https://bioportal.bioontology.org/search?q=C0344724&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344724</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001684" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001684</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001655" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001655</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001655" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001655</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Gastrointestinal </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Poor feeding <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299698007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299698007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/78164000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">78164000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R63.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R63.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0576456&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0576456</a>, <a href="https://bioportal.bioontology.org/search?q=C0232466&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0232466</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011968" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011968</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011968" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011968</a>]</span><br /> -
Tube feeding <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61420007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61420007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0041281&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0041281</a>, <a href="https://bioportal.bioontology.org/search?q=C0014327&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014327</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033454" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033454</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040288" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040288</a>]</span><br /> -
Gastroesophageal reflux <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/235595009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">235595009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/722884003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">722884003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/698065002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">698065002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K21" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K21</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K21.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K21.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/530.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">530.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3813607&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3813607</a>, <a href="https://bioportal.bioontology.org/search?q=C4317146&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4317146</a>, <a href="https://bioportal.bioontology.org/search?q=C0017168&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017168</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002020" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002020</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002020" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002020</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Spine </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br /> -
Vertebral anomalies <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61367005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61367005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834129&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834129</a>, <a href="https://bioportal.bioontology.org/search?q=C0265343&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265343</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003468" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003468</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003468" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003468</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Small hands <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 /> -
Clinodactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17268007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17268007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551485&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551485</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030084" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030084</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030084" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030084</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6c6553591f42fb5585fec835d3e3bab3" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Clinodactyly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=6c6553591f42fb5585fec835d3e3bab3&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 /> -
Camptodactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29271008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29271008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221369&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221369</a>, <a href="https://bioportal.bioontology.org/search?q=C0685409&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0685409</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012385" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012385</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012385" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012385</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=56cd131f7e4abed85662f1f7e23b10a2" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Camptodactyly-large-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=56cd131f7e4abed85662f1f7e23b10a2&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> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Small feet <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299461003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299461003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848673&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848673</a>, <a href="https://bioportal.bioontology.org/search?q=C0576224&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0576224</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001773" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001773</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001773" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001773</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Hair </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hirsutism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399939002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399939002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L68.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L68.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/704.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">704.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001007</a>]</span><br /> -
Low anterior hairline <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842366&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842366</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000294" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000294</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000294" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000294</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=65b0191a33ac10e07bf69640f20cfc40" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Hairline,Low_Anterior-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=65b0191a33ac10e07bf69640f20cfc40&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>
<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">
- Epileptic encephalopathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/723125008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">723125008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0543888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0543888</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200134" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200134</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200134" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200134</a>]</span><br /> -
Seizures, various types <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4228249&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4228249</a>]</span><br /> -
Status epilepticus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230456007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230456007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038220&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038220</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002133" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002133</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002133" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002133</a>]</span><br /> -
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 /> -
Developmental regression <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/609225004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">609225004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836830&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836830</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002376" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002376</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002376" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002376</a>]</span><br /> -
Delayed walking <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241726&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241726</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031936" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031936</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031936" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031936</a>]</span><br /> -
Inability to walk <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/282145008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">282145008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0560046&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0560046</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002540" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002540</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002540" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002540</a>]</span><br /> -
Poor or absent speech <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278212&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278212</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000750</a>]</span><br /> -
Impaired intellectual development <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4747273&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4747273</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
Abnormal EEG <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/274521009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">274521009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R94.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R94.01</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151611&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151611</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002353" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002353</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002353" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002353</a>]</span><br /> -
Hypsarrhythmia seen on EEG <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4015318&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4015318</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002521" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002521</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/28055006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">28055006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G40.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G40.82</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/345.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">345.6</a>]</span><br /> -
Axial hypotonia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853743&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853743</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008936" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008936</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008936" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008936</a>]</span><br /> -
Peripheral spasticity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5194820&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5194820</a>]</span><br /> -
Spastic tetraparesis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298282001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298282001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0575059&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0575059</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001285" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001285</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001285" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001285</a>]</span><br /> -
Midline brain defects (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5393310&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5393310</a>]</span><br /> -
Thin corpus callosum <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 /> -
Holoprosencephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30915001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30915001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q04.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q04.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0079541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0079541</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001360" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001360</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001360" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001360</a>]</span><br /> -
Triventricular ectasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5435743&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5435743</a>]</span><br /> -
Cerebral atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278849000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278849000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235946&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235946</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002059</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002059</a>]</span><br /> -
Cerebellar hypoplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16026008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16026008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266470&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266470</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001321" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001321</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001321" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001321</a>]</span><br /> -
Enlarged ventricles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278923&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278923</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002119</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002119</a>]</span><br /> -
Nonspecific white matter hyperintensities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5435744&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5435744</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">
- Onset of seizures in the first months or years of life<br /> -
Seizures are usually refractory<br /> -
Seizures tend to occur in clusters<br /> -
Only females are affected<br /> -
De novo mutation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2985439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2985439</a>]</span><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 structural maintenance of chromosomes 1A gene (SMC1A, <a href="/entry/300040#0007">300040.0007</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>
Developmental and epileptic encephalopathy
- <a href="/phenotypicSeries/PS308350">PS308350</a>
- 118 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/1/523?start=-3&limit=10&highlight=523"> 1p34.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615476"> Developmental and epileptic encephalopathy 18 </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/615476"> 615476 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615463"> SZT2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615463"> 615463 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/528?start=-3&limit=10&highlight=528"> 1p34.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615006"> Developmental and epileptic encephalopathy 15 </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/615006"> 615006 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606494"> ST3GAL3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606494"> 606494 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/642?start=-3&limit=10&highlight=642"> 1p32.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618437"> Developmental and epileptic encephalopathy 75 </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/618437"> 618437 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612036"> PARS2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612036"> 612036 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/674?start=-3&limit=10&highlight=674"> 1p31.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615859"> Developmental and epileptic encephalopathy 23 </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/615859"> 615859 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615730"> DOCK7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615730"> 615730 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/901?start=-3&limit=10&highlight=901"> 1p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616366"> Developmental and epileptic encephalopathy 32 </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/616366"> 616366 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176262"> KCNA2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176262"> 176262 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1056?start=-3&limit=10&highlight=1056"> 1q21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620772"> Developmental and epileptic encephalopathy 113 </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/620772"> 620772 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/185860"> SV2A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/185860"> 185860 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1310?start=-3&limit=10&highlight=1310"> 1q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619605"> Developmental and epileptic encephalopathy 98 </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/619605"> 619605 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/182340"> ATP1A2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/182340"> 182340 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1476?start=-3&limit=10&highlight=1476"> 1q25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618285"> Developmental and epileptic encephalopathy 69 </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/618285"> 618285 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601013"> CACNA1E </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601013"> 601013 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1477?start=-3&limit=10&highlight=1477"> 1q25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620806"> Developmental and epileptic encephalopathy 116 </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/620806"> 620806 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138290"> GLUL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138290"> 138290 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1527?start=-3&limit=10&highlight=1527"> 1q31.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617771"> Developmental and epileptic encephalopathy 57 </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/617771"> 617771 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610044"> KCNT2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610044"> 610044 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1742?start=-3&limit=10&highlight=1742"> 1q42.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619777"> Developmental and epileptic encephalopathy 100 </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/619777"> 619777 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609100"> FBXO28 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609100"> 609100 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1796?start=-3&limit=10&highlight=1796"> 1q42.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617020"> Developmental and epileptic encephalopathy 38 </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/617020"> 617020 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611647"> ARV1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611647"> 611647 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1851?start=-3&limit=10&highlight=1851"> 1q44 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617391"> Developmental and epileptic encephalopathy 54 </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/617391"> 617391 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602869"> HNRNPU </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602869"> 602869 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/126?start=-3&limit=10&highlight=126"> 2p23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616457"> Developmental and epileptic encephalopathy 50 </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/616457"> 616457 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114010"> CAD </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114010"> 114010 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/291?start=-3&limit=10&highlight=291"> 2p15 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618959"> ?Developmental and epileptic encephalopathy 88 </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/618959"> 618959 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/154200"> MDH1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/154200"> 154200 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/292?start=-3&limit=10&highlight=292"> 2p15 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618744"> Developmental and epileptic encephalopathy 83 </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/618744"> 618744 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191760"> UGP2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/191760"> 191760 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/735?start=-3&limit=10&highlight=735"> 2q24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617938"> Developmental and epileptic encephalopathy 62 </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/617938"> 617938 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/182391"> SCN3A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/182391"> 182391 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/736?start=-3&limit=10&highlight=736"> 2q24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613721"> Developmental and epileptic encephalopathy 11 </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/613721"> 613721 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/182390"> SCN2A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/182390"> 182390 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/740?start=-3&limit=10&highlight=740"> 2q24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619317"> Developmental and epileptic encephalopathy 6B, non-Dravet </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/619317"> 619317 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/182389"> SCN1A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/182389"> 182389 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/740?start=-3&limit=10&highlight=740"> 2q24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607208"> Dravet syndrome </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/607208"> 607208 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/182389"> SCN1A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/182389"> 182389 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/767?start=-3&limit=10&highlight=767"> 2q31.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619124"> Developmental and epileptic encephalopathy 89 </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/619124"> 619124 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605363"> GAD1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605363"> 605363 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/774?start=-3&limit=10&highlight=774"> 2q31.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612949"> Developmental and epileptic encephalopathy 39 </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/612949"> 612949 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603667"> SLC25A12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603667"> 603667 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/871?start=-3&limit=10&highlight=871"> 2q32.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618328"> Developmental and epileptic encephalopathy 71 </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/618328"> 618328 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138280"> GLS </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138280"> 138280 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/200?start=-3&limit=10&highlight=200"> 3p22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618201"> Developmental and epileptic encephalopathy 68 </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/618201"> 618201 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608112"> TRAK1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608112"> 608112 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/296?start=-3&limit=10&highlight=296"> 3p21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618910"> ?Developmental and epileptic encephalopathy 86 </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/618910"> 618910 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618904"> DALRD3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618904"> 618904 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/331?start=-3&limit=10&highlight=331"> 3p21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619881"> Developmental and epileptic encephalopathy 102 </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/619881"> 619881 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604437"> SLC38A3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604437"> 604437 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/558?start=-3&limit=10&highlight=558"> 3q13.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618012"> Developmental and epileptic encephalopathy 93 </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/618012"> 618012 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607027"> ATP6V1A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607027"> 607027 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/688?start=-3&limit=10&highlight=688"> 3q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617132"> Developmental and epileptic encephalopathy 44 </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/617132"> 617132 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610552"> UBA5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610552"> 610552 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/775?start=-3&limit=10&highlight=775"> 3q25.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618379"> Developmental and epileptic encephalopathy 73 </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/618379"> 618379 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609247"> RNF13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609247"> 609247 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/968?start=-3&limit=10&highlight=968"> 3q28-q29 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617166"> Developmental and epileptic encephalopathy 47 </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/617166"> 617166 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601513"> FGF12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601513"> 601513 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/17?start=-3&limit=10&highlight=17"> 4p16.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617976"> Developmental and epileptic encephalopathy 63 </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/617976"> 617976 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605032"> CPLX1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605032"> 605032 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/162?start=-3&limit=10&highlight=162"> 4p14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618792"> Developmental and epileptic encephalopathy 84 </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/618792"> 618792 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603370"> UGDH </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603370"> 603370 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/184?start=-3&limit=10&highlight=184"> 4p12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617065"> ?Developmental and epileptic encephalopathy 40 </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/617065"> 617065 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617064"> GUF1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617064"> 617064 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/187?start=-3&limit=10&highlight=187"> 4p12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618557"> Developmental and epileptic encephalopathy 78 </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/618557"> 618557 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137140"> GABRA2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137140"> 137140 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/190?start=-3&limit=10&highlight=190"> 4p12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617153"> Developmental and epileptic encephalopathy 45 </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/617153"> 617153 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137190"> GABRB1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137190"> 137190 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/446?start=-3&limit=10&highlight=446"> 4q24 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617711"> Developmental and epileptic encephalopathy 91 </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/617711"> 617711 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114105"> PPP3CA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114105"> 114105 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/719?start=-3&limit=10&highlight=719"> 4q35.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620028"> Developmental and epileptic encephalopathy 106 </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/620028"> 620028 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611482"> UFSP2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611482"> 611482 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/149?start=-3&limit=10&highlight=149"> 5p12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615871"> Developmental and epileptic encephalopathy 24 </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/615871"> 615871 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602780"> HCN1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602780"> 602780 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/711?start=-3&limit=10&highlight=711"> 5q33.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618008"> Developmental and epileptic encephalopathy 65 </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/618008"> 618008 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606323"> CYFIP2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606323"> 606323 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/733?start=-3&limit=10&highlight=733"> 5q34 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617829"> Developmental and epileptic encephalopathy 92 </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/617829"> 617829 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600232"> GABRB2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600232"> 600232 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/735?start=-3&limit=10&highlight=735"> 5q34 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615744"> Developmental and epileptic encephalopathy 19 </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/615744"> 615744 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137160"> GABRA1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137160"> 137160 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/736?start=-3&limit=10&highlight=736"> 5q34 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618396"> Developmental and epileptic encephalopathy 74 </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/618396"> 618396 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137164"> GABRG2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137164"> 137164 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/66?start=-3&limit=10&highlight=66"> 6p24.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618298"> Developmental and epileptic encephalopathy 70 </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/618298"> 618298 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608723"> PHACTR1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608723"> 608723 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/507?start=-3&limit=10&highlight=507"> 6p21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617929"> Developmental and epileptic encephalopathy 60 </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/617929"> 617929 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610774"> CNPY3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610774"> 610774 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/775?start=-3&limit=10&highlight=775"> 6q21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618916"> Developmental and epileptic encephalopathy 87 </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/618916"> 618916 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614720"> CDK19 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614720"> 614720 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/354?start=-3&limit=10&highlight=354"> 7q11.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617339"> Developmental and epileptic encephalopathy 51 </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/617339"> 617339 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/154100"> MDH2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/154100"> 154100 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/356?start=-3&limit=10&highlight=356"> 7q11.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617665"> Developmental and epileptic encephalopathy 56 </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/617665"> 617665 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605356"> YWHAG </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605356"> 605356 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/377?start=-3&limit=10&highlight=377"> 7q21.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620149"> Developmental and epileptic encephalopathy 110 </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/620149"> 620149 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114204"> CACNA2D1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114204"> 114204 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/393?start=-3&limit=10&highlight=393"> 7q21.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617933"> Developmental and epileptic encephalopathy 61 </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/617933"> 617933 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603709"> ADAM22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603709"> 603709 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/511?start=-3&limit=10&highlight=511"> 7q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618468"> Developmental and epileptic encephalopathy 76 </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/618468"> 618468 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612458"> ACTL6B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612458"> 612458 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/121?start=-3&limit=10&highlight=121"> 8p21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618004"> Developmental and epileptic encephalopathy 64 </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/618004"> 618004 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607352"> RHOBTB2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607352"> 607352 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/276?start=-3&limit=10&highlight=276"> 9q21.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617830"> Developmental and epileptic encephalopathy 58 </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/617830"> 617830 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600456"> NTRK2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600456"> 600456 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/351?start=-3&limit=10&highlight=351"> 9q22.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617904"> Developmental and epileptic encephalopathy 59 </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/617904"> 617904 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607340"> GABBR2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607340"> 607340 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/402?start=-3&limit=10&highlight=402"> 9q31.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616981"> Developmental and epileptic encephalopathy 37 </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/616981"> 616981 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604574"> FRRS1L </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604574"> 604574 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/518?start=-3&limit=10&highlight=518"> 9q34.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612164"> Developmental and epileptic encephalopathy 4 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <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/612164"> 612164 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602926"> STXBP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602926"> 602926 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/537?start=-3&limit=10&highlight=537"> 9q34.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620352"> Developmental and epileptic encephalopathy 31B, autosomal recessive </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/620352"> 620352 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602377"> DNM1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602377"> 602377 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/537?start=-3&limit=10&highlight=537"> 9q34.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616346"> Developmental and epileptic encephalopathy 31A, autosomal dominant </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/616346"> 616346 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602377"> DNM1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602377"> 602377 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/548?start=-3&limit=10&highlight=548"> 9q34.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613477"> Developmental and epileptic encephalopathy 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/613477"> 613477 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/182810"> SPTAN1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/182810"> 182810 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/642?start=-3&limit=10&highlight=642"> 9q34.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614959"> Developmental and epileptic encephalopathy 14 </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/614959"> 614959 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608167"> KCNT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608167"> 608167 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/683?start=-3&limit=10&highlight=683"> 9q34.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619814"> Developmental and epileptic encephalopathy 101 </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/619814"> 619814 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138249"> GRIN1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138249"> 138249 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/49?start=-3&limit=10&highlight=49"> 10p14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619561"> Developmental and epileptic encephalopathy 97 </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/619561"> 619561 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602538"> CELF2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602538"> 602538 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/42?start=-3&limit=10&highlight=42"> 11p15.5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609304"> Developmental and epileptic encephalopathy 3 </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/609304"> 609304 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609302"> SLC25A22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609302"> 609302 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/165?start=-3&limit=10&highlight=165"> 11p15.4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617281"> Developmental and epileptic encephalopathy 49 </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/617281"> 617281 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617278"> DENND5A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617278"> 617278 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/307?start=-3&limit=10&highlight=307"> 11p13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617105"> Developmental and epileptic encephalopathy 41 </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/617105"> 617105 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600300"> SLC1A2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600300"> 600300 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/108?start=-3&limit=10&highlight=108"> 12p13.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615833"> Developmental and epileptic encephalopathy 21 </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/615833"> 615833 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611623"> NECAP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611623"> 611623 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/189?start=-3&limit=10&highlight=189"> 12p13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616139"> Developmental and epileptic encephalopathy 27 </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/616139"> 616139 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138252"> GRIN2B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138252"> 138252 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/390?start=-3&limit=10&highlight=390"> 12q13.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614558"> Developmental and epileptic encephalopathy 13 </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/614558"> 614558 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600702"> SCN8A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600702"> 600702 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/632?start=-3&limit=10&highlight=632"> 12q21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619913"> Developmental and epileptic encephalopathy 103 </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/619913"> 619913 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176256"> KCNC2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176256"> 176256 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/810?start=-3&limit=10&highlight=810"> 12q24.11-q24.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618141"> Developmental and epileptic encephalopathy 67 </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/618141"> 618141 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610648"> CUX2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610648"> 610648 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/300?start=-3&limit=10&highlight=300"> 14q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620537"> Developmental and epileptic encephalopathy 112 </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/620537"> 620537 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605716"> KCNH5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605716"> 605716 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/603?start=-3&limit=10&highlight=603"> 14q32.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618067"> Developmental and epileptic encephalopathy 66 </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/618067"> 618067 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610423"> PACS2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610423"> 610423 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/36?start=-3&limit=10&highlight=36"> 15q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617113"> Developmental and epileptic encephalopathy 43 </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/617113"> 617113 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137192"> GABRB3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137192"> 137192 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/37?start=-3&limit=10&highlight=37"> 15q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618559"> Developmental and epileptic encephalopathy 79 </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/618559"> 618559 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137142"> GABRA5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137142"> 137142 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/214?start=-3&limit=10&highlight=214"> 15q21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618663"> Developmental and epileptic encephalopathy 81 </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/618663"> 618663 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612186"> DMXL2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612186"> 612186 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/232?start=-3&limit=10&highlight=232"> 15q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618580"> Developmental and epileptic encephalopathy 80 </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/618580"> 618580 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604122"> PIGB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604122"> 604122 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/455?start=-3&limit=10&highlight=455"> 15q25.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617276"> Developmental and epileptic encephalopathy 48 </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/617276"> 617276 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602166"> AP3B2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602166"> 602166 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/532?start=-3&limit=10&highlight=532"> 15q26.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615369"> Developmental and epileptic encephalopathy 94 </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/615369"> 615369 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602119"> CHD2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602119"> 602119 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/31?start=-3&limit=10&highlight=31"> 16p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618548"> Multiple congenital anomalies-hypotonia-seizures syndrome 4 </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/618548"> 618548 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605754"> PIGQ </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605754"> 605754 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/108?start=-3&limit=10&highlight=108"> 16p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615338"> Developmental and epileptic encephalopathy 16 </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/615338"> 615338 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613577"> TBC1D24 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613577"> 613577 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/450?start=-3&limit=10&highlight=450"> 16q13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615473"> Developmental and epileptic encephalopathy 17 </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/615473"> 615473 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/139311"> GNAO1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/139311"> 139311 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/506?start=-3&limit=10&highlight=506"> 16q21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618721"> Developmental and epileptic encephalopathy 82 </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/618721"> 618721 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138150"> GOT2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138150"> 138150 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/603?start=-3&limit=10&highlight=603"> 16q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616339"> Developmental and epileptic encephalopathy 29 </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/616339"> 616339 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601065"> AARS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601065"> 601065 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/666?start=-3&limit=10&highlight=666"> 16q23.1-q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616211"> Developmental and epileptic encephalopathy 28 </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/616211"> 616211 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605131"> WWOX </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605131"> 605131 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/124?start=-3&limit=10&highlight=124"> 17p13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615905"> Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta </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/615905"> 615905 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608305"> SLC13A5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608305"> 608305 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/341?start=-3&limit=10&highlight=341"> 17q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618143"> Developmental and epileptic encephalopathy 95 </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/618143"> 618143 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610271"> PIGS </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610271"> 610271 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/485?start=-3&limit=10&highlight=485"> 17q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618374"> Developmental and epileptic encephalopathy 72 </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/618374"> 618374 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601725"> NEUROD2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601725"> 601725 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/578?start=-3&limit=10&highlight=578"> 17q21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619970"> Developmental and epileptic encephalopathy 104 </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/619970"> 619970 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/192130"> ATP6V0A1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/192130"> 192130 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/668?start=-3&limit=10&highlight=668"> 17q21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619340"> Developmental and epileptic encephalopathy 96 </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/619340"> 619340 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601633"> NSF </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601633"> 601633 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/712?start=-3&limit=10&highlight=712"> 17q21.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620783"> Developmental and epileptic encephalopathy 115 </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/620783"> 620783 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610904"> SNF8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610904"> 610904 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/928?start=-3&limit=10&highlight=928"> 17q25.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619983"> Developmental and epileptic encephalopathy 105 with hypopituitarism </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/619983"> 619983 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605752"> HID1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605752"> 605752 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/107?start=-3&limit=10&highlight=107"> 19p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620145"> Developmental and epileptic encephalopathy 109 </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/620145"> 620145 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603619"> FZR1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603619"> 603619 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/355?start=-3&limit=10&highlight=355"> 19p13.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617106"> Developmental and epileptic encephalopathy 42 </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/617106"> 617106 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601011"> CACNA1A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601011"> 601011 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/452?start=-3&limit=10&highlight=452"> 19p13.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620115"> Developmental and epileptic encephalopathy 108 </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/620115"> 620115 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612258"> MAST3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612258"> 612258 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/567?start=-3&limit=10&highlight=567"> 19q13.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617350"> Developmental and epileptic encephalopathy 52 </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/617350"> 617350 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600235"> SCN1B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600235"> 600235 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/745?start=-3&limit=10&highlight=745"> 19q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619606"> Developmental and epileptic encephalopathy 99 </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/619606"> 619606 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/182350"> ATP1A3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/182350"> 182350 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/895?start=-3&limit=10&highlight=895"> 19q13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617162"> Developmental and epileptic encephalopathy 46 </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/617162"> 617162 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602717"> GRIN2D </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602717"> 602717 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/967?start=-3&limit=10&highlight=967"> 19q13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613402"> Microcephaly, seizures, and developmental delay </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/613402"> 613402 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605610"> PNKP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605610"> 605610 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/50?start=-3&limit=10&highlight=50"> 20p13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616647"> Developmental and epileptic encephalopathy 35 </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/616647"> 616647 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147520"> ITPA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147520"> 147520 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/92?start=-3&limit=10&highlight=92"> 20p12.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613722"> Developmental and epileptic encephalopathy 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/613722"> 613722 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607120"> PLCB1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607120"> 607120 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/149?start=-3&limit=10&highlight=149"> 20p11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620033"> Developmental and epileptic encephalopathy 107 </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/620033"> 620033 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611270"> NAPB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611270"> 611270 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/282?start=-3&limit=10&highlight=282"> 20q11.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620774"> Developmental and epileptic encephalopathy 114 </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/620774"> 620774 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616440"> SLC32A1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616440"> 616440 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/353?start=-3&limit=10&highlight=353"> 20q13.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616645"> Developmental and epileptic encephalopathy 34 </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/616645"> 616645 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606726"> SLC12A5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606726"> 606726 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/374?start=-3&limit=10&highlight=374"> 20q13.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616056"> Developmental and epileptic encephalopathy 26 </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/616056"> 616056 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600397"> KCNB1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600397"> 600397 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/471?start=-3&limit=10&highlight=471"> 20q13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613720"> Developmental and epileptic encephalopathy 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/613720"> 613720 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602235"> KCNQ2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602235"> 602235 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/472?start=-3&limit=10&highlight=472"> 20q13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616409"> Developmental and epileptic encephalopathy 33 </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/616409"> 616409 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602959"> EEF1A2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602959"> 602959 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/21/62?start=-3&limit=10&highlight=62"> 21q22.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617389"> Developmental and epileptic encephalopathy 53 </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/617389"> 617389 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604297"> SYNJ1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604297"> 604297 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/21/97?start=-3&limit=10&highlight=97"> 21q22.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617599"> Developmental and epileptic encephalopathy 55 </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/617599"> 617599 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605938"> PIGP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605938"> 605938 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/21/145?start=-3&limit=10&highlight=145"> 21q22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616341"> Developmental and epileptic encephalopathy 30 </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/616341"> 616341 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605705"> SIK1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605705"> 605705 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/192?start=-3&limit=10&highlight=192"> 22q12.2-q12.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620504"> Developmental and epileptic encephalopathy 111 </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/620504"> 620504 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614191"> DEPDC5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614191"> 614191 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/78?start=-3&limit=10&highlight=78"> Xp22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300868"> Multiple congenital anomalies-hypotonia-seizures syndrome 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300868"> 300868 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/311770"> PIGA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/311770"> 311770 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/99?start=-3&limit=10&highlight=99"> Xp22.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300672"> Developmental and epileptic encephalopathy 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</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/300672"> 300672 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300203"> CDKL5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300203"> 300203 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/132?start=-3&limit=10&highlight=132"> Xp21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/308350"> Developmental and epileptic encephalopathy 1 </a>
</span>
</td>
<td>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/308350"> 308350 </a>
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<span class="mim-font">
<a href="/entry/300382"> ARX </a>
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<span class="mim-font">
<a href="/entry/300382"> 300382 </a>
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<span class="mim-font">
<a href="/geneMap/X/262?start=-3&limit=10&highlight=262"> Xp11.23 </a>
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<span class="mim-font">
<a href="/entry/300896"> Congenital disorder of glycosylation, type IIm </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Somatic mosaicism">SMo</abbr>, <abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/300896"> 300896 </a>
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<a href="/entry/314375"> SLC35A2 </a>
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<a href="/entry/314375"> 314375 </a>
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<a href="/geneMap/X/325?start=-3&limit=10&highlight=325"> Xp11.22 </a>
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<span class="mim-font">
<a href="/entry/301044"> Developmental and epileptic encephalopathy 85, with or without midline brain defects </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/301044"> 301044 </a>
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<a href="/entry/300040"> SMC1A </a>
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<a href="/entry/300040"> 300040 </a>
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<a href="/geneMap/X/363?start=-3&limit=10&highlight=363"> Xq11.1 </a>
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<span class="mim-font">
<a href="/entry/300607"> Developmental and epileptic encephalopathy 8 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/300607"> 300607 </a>
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<a href="/entry/300429"> ARHGEF9 </a>
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<span class="mim-font">
<a href="/entry/300429"> 300429 </a>
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<span class="mim-font">
<a href="/geneMap/X/487?start=-3&limit=10&highlight=487"> Xq22.1 </a>
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<span class="mim-font">
<a href="/entry/300088"> Developmental and epileptic encephalopathy 9 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/300088"> 300088 </a>
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<span class="mim-font">
<a href="/entry/300460"> PCDH19 </a>
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<span class="mim-font">
<a href="/entry/300460"> 300460 </a>
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<span class="mim-font">
<a href="/geneMap/X/576?start=-3&limit=10&highlight=576"> Xq23 </a>
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<span class="mim-font">
<a href="/entry/300884"> Developmental and epileptic encephalopathy 36 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/300884"> 300884 </a>
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<span class="mim-font">
<a href="/entry/300776"> ALG13 </a>
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<span class="mim-font">
<a href="/entry/300776"> 300776 </a>
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<span class="mim-font">
<a href="/geneMap/X/729?start=-3&limit=10&highlight=729"> Xq26.3-q27.1 </a>
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<span class="mim-font">
<a href="/entry/301058"> Developmental and epileptic encephalopathy 90 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>, <abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/301058"> 301058 </a>
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<span class="mim-font">
<a href="/entry/300070"> FGF13 </a>
</span>
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<span class="mim-font">
<a href="/entry/300070"> 300070 </a>
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<p>A number sign (#) is used with this entry because of evidence that developmental and epileptic encephalopathy-85 with or without midline brain defects (DEE85) is caused by heterozygous mutation in the SMC1A gene (<a href="/entry/300040">300040</a>) on chromosome Xp11.</p><p>Mutation in the SMC1A gene can also cause Cornelia de Lange syndrome-2 (CDLS2; <a href="/entry/300590">300590</a>), a milder disorder with some overlapping features.</p>
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<strong>Description</strong>
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<p>Developmental and epileptic encephalopathy-85 with or without midline brain defects (DEE85) is an X-linked neurologic disorder characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features. The seizures tend to show a cyclic pattern with clustering. Many patients have midline brain defects on brain imaging, including thin corpus callosum and/or variable forms of holoprosencephaly (HPE). The severity and clinical manifestations are variable. Almost all reported patients are females with de novo mutations predicted to result in a loss of function (LOF). However, some patients may show skewed X inactivation, and the pathogenic mechanism may be due to a dominant-negative effect. The SMC1A protein is part of the multiprotein cohesin complex involved in chromatid cohesion during DNA replication and transcriptional regulation; DEE85 can thus be classified as a 'cohesinopathy' (summary by <a href="#6" class="mim-tip-reference" title="Symonds, J. D., Joss, S., Metcalfe, K. A., Somarathi, S., Cruden, J., Devlin, A. M., Donaldson, A., DiDonato, N., Fitzpatrick, D., Kaiser, F. J., Lampe, A. K., Lees, M. M., and 13 others. &lt;strong&gt;Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: detailed phenotyping of 10 new cases.&lt;/strong&gt; Epilepsia 58: 565-575, 2017.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/28166369/&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;28166369&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/epi.13669&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="28166369">Symonds et al., 2017</a> and <a href="#4" class="mim-tip-reference" title="Kruszka, P., Berger, S. I., Casa, V., Dekker, M. R., Gaesser, J., Weiss, K., Martinez, A. F., Murdock, D. R, Louie, R. J., Prijoles, E. J., Lichty, A. W., Brouwer, O. F., and 23 others. &lt;strong&gt;Cohesin complex-associated holoprosencephaly.&lt;/strong&gt; Brain 142: 2631-2643, 2019.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/31334757/&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;31334757&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/awz210&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="31334757">Kruszka et al., 2019</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=28166369+31334757" 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 general phenotypic description and a discussion of genetic heterogeneity of DEE, see <a href="/entry/308350">308350</a>.</p>
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<p><a href="#2" class="mim-tip-reference" title="Hansen, J., Mohr, J., Burki, S., Lemke, J. R. &lt;strong&gt;A case of cohesinopathy with a novel de-novo SMC1A splice site mutation.&lt;/strong&gt; Clin. Dysmorph. 22: 143-145, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23863341/&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;23863341&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/MCD.0b013e3283645439&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="23863341">Hansen et al. (2013)</a> reported an 11-year-old Swiss girl with DEE85. She was born with microcephaly, congenital hip dysplasia, and diaphragmatic hernia. At age 3 months, she developed generalized tonic-clonic seizures associated with EEG abnormalities; the seizures tended to occur in clusters. She had global developmental delay with mildly delayed walking and mild speech delay. Dysmorphic features included a round face with arched eyebrows, short nose, upslanting palpebral fissures, smooth philtrum, mild retrognathia, crowded teeth, flattened midface, clinodactyly, and camptodactyly. The authors noted that the report expanded the phenotypic spectrum associated with SMC1A mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23863341" 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="Lebrun, N., Lebon, S., Jeannet, P.-Y., Jacquemont, S., Billuart, P., Bienvenu, T. &lt;strong&gt;Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.&lt;/strong&gt; Am. J. Med. Genet. 167A: 3076-3081, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26358754/&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;26358754&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.37364&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="26358754">Lebrun et al. (2015)</a> reported a 7-year-old girl, born of unrelated Portuguese parents, with DEE85. She had intrauterine growth retardation and manifested microcephaly and mild dysmorphic facial features at birth. She had synophrys, thin nose and upper lip, retrognathia, triangular face, and small hands and feet. During the first month of life, she developed refractory focal seizures, infantile spasms, and multifocal seizures associated with hypsarrhythmia on EEG. Thereafter she showed severe developmental delay with poor visual contact, impaired intellectual development, absent speech, axial hypotonia, peripheral hypertonia, spastic tetraparesis, scoliosis, and poor overall growth. Other features included gastroesophageal reflux and stereotypic hand movements. Brain imaging showed small frontal lobes and thin corpus callosum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26358754" 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="Goldstein, J. H. R., Tim-aroon, T., Shieh, J., Merrill, M., Deeb, K. K., Zhang, S., Bass, N. E., Bedoyan, J. K. &lt;strong&gt;Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.&lt;/strong&gt; Europ. J. Med. Genet. 58: 562-568, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26386245/&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;26386245&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ejmg.2015.09.007&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="26386245">Goldstein et al. (2015)</a> reported 2 unrelated girls with DEE85. Patient A was a 4-year-old girl with intractable epilepsy associated with status epilepticus, global developmental delay, severe hypotonia, limb hyperreflexia, and microcephaly. She was able to walk a few steps at age 18 months, but later regressed and was nonambulatory. She was nonverbal and had a feeding tube. Her seizures were refractory to medication and evolved into clusters with a cyclic frequency every 1 to 2 weeks. Other features included long eyelashes, short nose, hirsutism, and small hands and feet. Brain imaging showed nonspecific findings, including mildly enlarged ventricles, mildly rotated hippocampal heads, and some white matter hyperintensities. Patient B was a 3-year-old girl who had mild developmental delay before the onset of seizures at 11 months of age. The seizures were initially refractory, but eventually were controlled. Brain imaging showed mild enlargement of extraaxial spaces and slight thinning of the corpus callosum. Neither patient showed classic dysmorphic features suggestive of CDLS, thus expanding the phenotypic spectrum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26386245" 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="Jansen, S., Kleefstra, T., Willemsen, M. H., de Vries, P., Pfundt, R., Hehir-Kwa, J. Y., Gilissen, C., Veltman, J. A., de Vries, B. B. A., Vissers, L. E. L. M. &lt;strong&gt;De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.&lt;/strong&gt; Clin. Genet. 90: 413-419, 2016.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26752331/&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;26752331&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/cge.12729&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="26752331">Jansen et al. (2016)</a> reported 2 unrelated female patients with DEE85. Patient 1 was a 46-year-old woman with severe developmental delay apparent from infancy. She had impaired intellectual development with absent language and inability to crawl or walk. At age 9 months, she developed refractory seizures associated with EEG abnormalities. She also had a history of cleft palate. Physical examination as an adult showed small head circumference (-2.5 SD), short stature, low anterior hairline, flat midface, straight eyebrows with deep-set eyes, long small ears, long nose, short philtrum, disorganized dentition, small hand with tapering fingers, and contractures of the fingers and toes. Other features included axial hypotonia, peripheral spasticity, visual impairment, myopia, and scoliosis. Brain imaging showed enlarged ventricles and cerebellar hypoplasia. The other patient was a 14-year-old girl who developed refractory generalized seizures at 2 months of age. She had global developmental delay with loss of ambulation in childhood, severely impaired intellectual development with absent speech, hypotonia, poor feeding requiring a G-tube, and poor overall growth with small head circumference (-2.5 SD). Dysmorphic features included trigonocephaly, upslanting palpebral fissures, blepharophimosis, posteriorly rotated ears, full cheeks, full lips, short philtrum gingival hyperplasia, and small hands with slender fingers. <a href="#3" class="mim-tip-reference" title="Jansen, S., Kleefstra, T., Willemsen, M. H., de Vries, P., Pfundt, R., Hehir-Kwa, J. Y., Gilissen, C., Veltman, J. A., de Vries, B. B. A., Vissers, L. E. L. M. &lt;strong&gt;De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.&lt;/strong&gt; Clin. Genet. 90: 413-419, 2016.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26752331/&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;26752331&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/cge.12729&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="26752331">Jansen et al. (2016)</a> concluded that the phenotype in these patients was distinct from CDLS2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26752331" 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="Symonds, J. D., Joss, S., Metcalfe, K. A., Somarathi, S., Cruden, J., Devlin, A. M., Donaldson, A., DiDonato, N., Fitzpatrick, D., Kaiser, F. J., Lampe, A. K., Lees, M. M., and 13 others. &lt;strong&gt;Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: detailed phenotyping of 10 new cases.&lt;/strong&gt; Epilepsia 58: 565-575, 2017.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/28166369/&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;28166369&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/epi.13669&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="28166369">Symonds et al. (2017)</a> reported 10 unrelated girls with early-onset refractory seizures, 8 of whom were probands identified through the DDD cohort based on exome sequencing. A ninth patient was a sister of one of the 8 probands, and a tenth patient was identified through analysis of a custom gene panel. All presented with drug-resistant epilepsy within the first months of life (median, 4.5 months), although 2 patients eventually became seizure-free. Seizure types were variable, including afebrile motor seizures, tonic-clonic, clonic, focal, myoclonic, absence, and generalized. EEG showed focal or multifocal abnormalities, spike and sharp-wave complexes, and generalized background slowing; some patients had status epilepticus. The seizures tended to occur in clusters in a cyclic pattern. The patients had moderate to profound developmental delay with delayed walking or inability to walk, impaired intellectual development and absent language, hypotonia, and poor growth with short stature and progressive microcephaly. Four patients had congenital cardiac anomalies, mainly septal defects, 2 had cleft palate, and 2 had bifid thoracic vertebrae. Dysmorphic features included flattened midface, short upturned nose, and shallow philtrum. Brain imaging was normal in 5 patients and showed nonspecific anomalies in 2, whereas 3 had variable midline brain defects, including small cavum septum vergae, thin corpus callosum, and semilobar holoprosencephaly, respectively. Of 2 affected sisters, one (patient 9) had semilobar HPE and died at 11 months of age; the other (patient 8), who carried the same mutation, had no structural organ anomalies, no dysmorphic features, and normal brain MRI. None of the patients were considered clinically to have features of CDLS before the genetic analysis, and the authors suggested that the phenotype was not only distinct from, but also more severe than CDLS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28166369" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Patients with Significant Midline Brain Defects</em></strong></p><p>
<a href="#4" class="mim-tip-reference" title="Kruszka, P., Berger, S. I., Casa, V., Dekker, M. R., Gaesser, J., Weiss, K., Martinez, A. F., Murdock, D. R, Louie, R. J., Prijoles, E. J., Lichty, A. W., Brouwer, O. F., and 23 others. &lt;strong&gt;Cohesin complex-associated holoprosencephaly.&lt;/strong&gt; Brain 142: 2631-2643, 2019.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/31334757/&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;31334757&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/awz210&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="31334757">Kruszka et al. (2019)</a> reported 5 unrelated girls (patients 7-11), ranging in age from 15 months to 6 years, with early-onset epileptic encephalopathy and midline brain defects. The patients were ascertained due to holoprosencephaly. Four patients had early-onset seizures; seizures were not reported in a 15-month-old girl. Three patients had semilobar HPE, 1 had triventricular ectasia, and 1 had middle interhemispheric HPE. All had microcephaly, and most had dysmorphic facial features, including brachycephaly, sloping forehead, arched eyebrows, synophrys, midface flattening, bitemporal narrowing, depressed nasal bridge, upslanting palpebral fissures, and single central incisor. Additional common but variable features included growth delay, small hands and feet, and feeding problems. One patient had spina bifida and another had patent foramen ovale. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31334757" 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 heterozygous mutations in the SMC1A gene that were identified in female patients with DEE85 with or without midline brain defects by <a href="#1" class="mim-tip-reference" title="Goldstein, J. H. R., Tim-aroon, T., Shieh, J., Merrill, M., Deeb, K. K., Zhang, S., Bass, N. E., Bedoyan, J. K. &lt;strong&gt;Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.&lt;/strong&gt; Europ. J. Med. Genet. 58: 562-568, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26386245/&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;26386245&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ejmg.2015.09.007&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="26386245">Goldstein et al. (2015)</a>, <a href="#3" class="mim-tip-reference" title="Jansen, S., Kleefstra, T., Willemsen, M. H., de Vries, P., Pfundt, R., Hehir-Kwa, J. Y., Gilissen, C., Veltman, J. A., de Vries, B. B. A., Vissers, L. E. L. M. &lt;strong&gt;De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.&lt;/strong&gt; Clin. Genet. 90: 413-419, 2016.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26752331/&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;26752331&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/cge.12729&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="26752331">Jansen et al. (2016)</a>, and <a href="#4" class="mim-tip-reference" title="Kruszka, P., Berger, S. I., Casa, V., Dekker, M. R., Gaesser, J., Weiss, K., Martinez, A. F., Murdock, D. R, Louie, R. J., Prijoles, E. J., Lichty, A. W., Brouwer, O. F., and 23 others. &lt;strong&gt;Cohesin complex-associated holoprosencephaly.&lt;/strong&gt; Brain 142: 2631-2643, 2019.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/31334757/&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;31334757&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/awz210&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="31334757">Kruszka et al. (2019)</a> occurred de novo. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=26752331+26386245+31334757" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="molecularGenetics" class="mim-anchor"></a>
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<p>In an 11-year-old Swiss girl with DEE85, <a href="#2" class="mim-tip-reference" title="Hansen, J., Mohr, J., Burki, S., Lemke, J. R. &lt;strong&gt;A case of cohesinopathy with a novel de-novo SMC1A splice site mutation.&lt;/strong&gt; Clin. Dysmorph. 22: 143-145, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23863341/&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;23863341&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/MCD.0b013e3283645439&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="23863341">Hansen et al. (2013)</a> identified a de novo heterozygous mutation (c.1731G-A, E577E) in the SMC1A gene, predicted to result in a splicing defect. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23863341" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 7-year-old girl, born of unrelated Portuguese parents, with DEE85, <a href="#5" class="mim-tip-reference" title="Lebrun, N., Lebon, S., Jeannet, P.-Y., Jacquemont, S., Billuart, P., Bienvenu, T. &lt;strong&gt;Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.&lt;/strong&gt; Am. J. Med. Genet. 167A: 3076-3081, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26358754/&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;26358754&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.37364&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="26358754">Lebrun et al. (2015)</a> identified a de novo heterozygous splice site mutation in the SMC1A gene (<a href="/entry/300040#0007">300040.0007</a>). The mutation was found by exome sequencing and confirmed by Sanger sequencing. Analysis of patient fibroblasts showed the presence of only the mutant transcript, which was significantly reduced compared to controls, suggesting nonsense-mediated mRNA decay and a loss of function (LOF). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26358754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 unrelated girls with DEE85, <a href="#1" class="mim-tip-reference" title="Goldstein, J. H. R., Tim-aroon, T., Shieh, J., Merrill, M., Deeb, K. K., Zhang, S., Bass, N. E., Bedoyan, J. K. &lt;strong&gt;Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.&lt;/strong&gt; Europ. J. Med. Genet. 58: 562-568, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26386245/&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;26386245&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ejmg.2015.09.007&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="26386245">Goldstein et al. (2015)</a> identified de novo heterozygous frameshift mutations in the SMC1A gene (<a href="/entry/300040#0008">300040.0008</a> and <a href="/entry/300040#0009">300040.0009</a>). The mutations were found by whole-exome sequencing and confirmed by Sanger sequencing. X-inactivation studies in peripheral blood cells showed a skewed pattern (93:7) in 1 patient, but a random pattern in the other. Additional functional studies of the variants and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26386245" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 unrelated females with DEE85, <a href="#3" class="mim-tip-reference" title="Jansen, S., Kleefstra, T., Willemsen, M. H., de Vries, P., Pfundt, R., Hehir-Kwa, J. Y., Gilissen, C., Veltman, J. A., de Vries, B. B. A., Vissers, L. E. L. M. &lt;strong&gt;De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.&lt;/strong&gt; Clin. Genet. 90: 413-419, 2016.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26752331/&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;26752331&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/cge.12729&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="26752331">Jansen et al. (2016)</a> identified de novo heterozygous LOF mutations in the SMC1A gene (see, e.g., <a href="/entry/300040#0010">300040.0010</a>). The mutations were found by whole-genome sequencing. X-inactivation studies in 1 patient showed a random pattern, whereas it was skewed in the other patient (85:15); additional functional studies were not performed. <a href="#3" class="mim-tip-reference" title="Jansen, S., Kleefstra, T., Willemsen, M. H., de Vries, P., Pfundt, R., Hehir-Kwa, J. Y., Gilissen, C., Veltman, J. A., de Vries, B. B. A., Vissers, L. E. L. M. &lt;strong&gt;De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.&lt;/strong&gt; Clin. Genet. 90: 413-419, 2016.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26752331/&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;26752331&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/cge.12729&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="26752331">Jansen et al. (2016)</a> concluded that the de novo LOF mutations in the SMC1A gene in females cause an abnormal dosage effect and that the resulting phenotype is distinct from CDLS2. The authors further suggested that LOF mutations in males may be embryonic lethal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26752331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 10 unrelated females with DEE85, <a href="#6" class="mim-tip-reference" title="Symonds, J. D., Joss, S., Metcalfe, K. A., Somarathi, S., Cruden, J., Devlin, A. M., Donaldson, A., DiDonato, N., Fitzpatrick, D., Kaiser, F. J., Lampe, A. K., Lees, M. M., and 13 others. &lt;strong&gt;Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: detailed phenotyping of 10 new cases.&lt;/strong&gt; Epilepsia 58: 565-575, 2017.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/28166369/&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;28166369&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/epi.13669&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="28166369">Symonds et al. (2017)</a> identified de novo heterozygous nonsense, frameshift, or splice site mutations in the SMC1A gene (see, e.g., <a href="/entry/300040#0011">300040.0011</a>-<a href="/entry/300040#0013">300040.0013</a>). Functional studies of the variants were not performed. X-inactivation studies, performed in some patients, had variable results: some showed a random pattern, whereas others had a skewed pattern. <a href="#6" class="mim-tip-reference" title="Symonds, J. D., Joss, S., Metcalfe, K. A., Somarathi, S., Cruden, J., Devlin, A. M., Donaldson, A., DiDonato, N., Fitzpatrick, D., Kaiser, F. J., Lampe, A. K., Lees, M. M., and 13 others. &lt;strong&gt;Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: detailed phenotyping of 10 new cases.&lt;/strong&gt; Epilepsia 58: 565-575, 2017.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/28166369/&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;28166369&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/epi.13669&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="28166369">Symonds et al. (2017)</a> speculated that if SMC1A escapes X inactivation, then haploinsufficiency is unlikely to be the causative mechanism; rather, the authors postulated a dominant-negative effect. The findings also suggested that complete SMC1A deficiency is embryonic lethal, as no males with such mutations have been reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28166369" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 5 unrelated girls (patients 7-11) with DEE85 and variable midline brain defects, including holoprosencephaly (HPE), <a href="#4" class="mim-tip-reference" title="Kruszka, P., Berger, S. I., Casa, V., Dekker, M. R., Gaesser, J., Weiss, K., Martinez, A. F., Murdock, D. R, Louie, R. J., Prijoles, E. J., Lichty, A. W., Brouwer, O. F., and 23 others. &lt;strong&gt;Cohesin complex-associated holoprosencephaly.&lt;/strong&gt; Brain 142: 2631-2643, 2019.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/31334757/&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;31334757&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/brain/awz210&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="31334757">Kruszka et al. (2019)</a> identified de novo heterozygous mutations in the SMC1A gene (see, e.g., <a href="/entry/300040#0014">300040.0014</a> and <a href="/entry/300040#0015">300040.0015</a>). All mutations except 1 were nonsense, frameshift, or splice site mutations, suggesting a loss-of-function effect; there was 1 missense mutation. Functional studies of the variants and studies of patient cells were not performed. Knockdown of the SMC1A gene in human neural progenitor cells resulted in upregulation of GLI2 (<a href="/entry/165230">165230</a>), ZIC2 (<a href="/entry/603073">603073</a>), and SMAD3 (<a href="/entry/603109">603109</a>) gene expression. Although the significance of these findings was unclear, they demonstrated that loss of SMC1A perturbs the expression of genes involved in HPE. The patients were part of a cohort of 277 individuals with HPE as well as gathered through collaborative efforts such as GeneMatcher. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31334757" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="Goldstein2015" class="mim-anchor"></a>
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Goldstein, J. H. R., Tim-aroon, T., Shieh, J., Merrill, M., Deeb, K. K., Zhang, S., Bass, N. E., Bedoyan, J. K.
<strong>Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.</strong>
Europ. J. Med. Genet. 58: 562-568, 2015.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26386245/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26386245</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26386245" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ejmg.2015.09.007" target="_blank">Full Text</a>]
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Hansen, J., Mohr, J., Burki, S., Lemke, J. R.
<strong>A case of cohesinopathy with a novel de-novo SMC1A splice site mutation.</strong>
Clin. Dysmorph. 22: 143-145, 2013.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23863341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23863341</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23863341" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1097/MCD.0b013e3283645439" target="_blank">Full Text</a>]
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<a id="Jansen2016" class="mim-anchor"></a>
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Jansen, S., Kleefstra, T., Willemsen, M. H., de Vries, P., Pfundt, R., Hehir-Kwa, J. Y., Gilissen, C., Veltman, J. A., de Vries, B. B. A., Vissers, L. E. L. M.
<strong>De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.</strong>
Clin. Genet. 90: 413-419, 2016.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26752331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26752331</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26752331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/cge.12729" target="_blank">Full Text</a>]
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<a id="Kruszka2019" class="mim-anchor"></a>
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Kruszka, P., Berger, S. I., Casa, V., Dekker, M. R., Gaesser, J., Weiss, K., Martinez, A. F., Murdock, D. R, Louie, R. J., Prijoles, E. J., Lichty, A. W., Brouwer, O. F., and 23 others.
<strong>Cohesin complex-associated holoprosencephaly.</strong>
Brain 142: 2631-2643, 2019.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31334757/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31334757</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31334757" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/brain/awz210" target="_blank">Full Text</a>]
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<a id="Lebrun2015" class="mim-anchor"></a>
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Lebrun, N., Lebon, S., Jeannet, P.-Y., Jacquemont, S., Billuart, P., Bienvenu, T.
<strong>Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.</strong>
Am. J. Med. Genet. 167A: 3076-3081, 2015.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26358754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26358754</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26358754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.37364" target="_blank">Full Text</a>]
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Symonds, J. D., Joss, S., Metcalfe, K. A., Somarathi, S., Cruden, J., Devlin, A. M., Donaldson, A., DiDonato, N., Fitzpatrick, D., Kaiser, F. J., Lampe, A. K., Lees, M. M., and 13 others.
<strong>Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: detailed phenotyping of 10 new cases.</strong>
Epilepsia 58: 565-575, 2017.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28166369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28166369</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28166369" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/epi.13669" target="_blank">Full Text</a>]
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Cassandra L. Kniffin : 04/08/2020
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carol : 12/01/2020
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ckniffin : 11/25/2020<br>carol : 04/15/2020<br>carol : 04/14/2020<br>ckniffin : 04/10/2020
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<strong>#</strong> 301044
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DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85
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<em>Alternative titles; symbols</em>
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EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 85, WITH OR WITHOUT MIDLINE BRAIN DEFECTS; EIEE85
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<strong>DO:</strong> 0070380; &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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Xp11.22
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Developmental and epileptic encephalopathy 85, with or without midline brain defects
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301044
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X-linked dominant
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3
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SMC1A
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300040
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that developmental and epileptic encephalopathy-85 with or without midline brain defects (DEE85) is caused by heterozygous mutation in the SMC1A gene (300040) on chromosome Xp11.</p><p>Mutation in the SMC1A gene can also cause Cornelia de Lange syndrome-2 (CDLS2; 300590), a milder disorder with some overlapping features.</p>
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<strong>Description</strong>
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<p>Developmental and epileptic encephalopathy-85 with or without midline brain defects (DEE85) is an X-linked neurologic disorder characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features. The seizures tend to show a cyclic pattern with clustering. Many patients have midline brain defects on brain imaging, including thin corpus callosum and/or variable forms of holoprosencephaly (HPE). The severity and clinical manifestations are variable. Almost all reported patients are females with de novo mutations predicted to result in a loss of function (LOF). However, some patients may show skewed X inactivation, and the pathogenic mechanism may be due to a dominant-negative effect. The SMC1A protein is part of the multiprotein cohesin complex involved in chromatid cohesion during DNA replication and transcriptional regulation; DEE85 can thus be classified as a 'cohesinopathy' (summary by Symonds et al., 2017 and Kruszka et al., 2019). </p><p>For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.</p>
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<strong>Clinical Features</strong>
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<p>Hansen et al. (2013) reported an 11-year-old Swiss girl with DEE85. She was born with microcephaly, congenital hip dysplasia, and diaphragmatic hernia. At age 3 months, she developed generalized tonic-clonic seizures associated with EEG abnormalities; the seizures tended to occur in clusters. She had global developmental delay with mildly delayed walking and mild speech delay. Dysmorphic features included a round face with arched eyebrows, short nose, upslanting palpebral fissures, smooth philtrum, mild retrognathia, crowded teeth, flattened midface, clinodactyly, and camptodactyly. The authors noted that the report expanded the phenotypic spectrum associated with SMC1A mutations. </p><p>Lebrun et al. (2015) reported a 7-year-old girl, born of unrelated Portuguese parents, with DEE85. She had intrauterine growth retardation and manifested microcephaly and mild dysmorphic facial features at birth. She had synophrys, thin nose and upper lip, retrognathia, triangular face, and small hands and feet. During the first month of life, she developed refractory focal seizures, infantile spasms, and multifocal seizures associated with hypsarrhythmia on EEG. Thereafter she showed severe developmental delay with poor visual contact, impaired intellectual development, absent speech, axial hypotonia, peripheral hypertonia, spastic tetraparesis, scoliosis, and poor overall growth. Other features included gastroesophageal reflux and stereotypic hand movements. Brain imaging showed small frontal lobes and thin corpus callosum. </p><p>Goldstein et al. (2015) reported 2 unrelated girls with DEE85. Patient A was a 4-year-old girl with intractable epilepsy associated with status epilepticus, global developmental delay, severe hypotonia, limb hyperreflexia, and microcephaly. She was able to walk a few steps at age 18 months, but later regressed and was nonambulatory. She was nonverbal and had a feeding tube. Her seizures were refractory to medication and evolved into clusters with a cyclic frequency every 1 to 2 weeks. Other features included long eyelashes, short nose, hirsutism, and small hands and feet. Brain imaging showed nonspecific findings, including mildly enlarged ventricles, mildly rotated hippocampal heads, and some white matter hyperintensities. Patient B was a 3-year-old girl who had mild developmental delay before the onset of seizures at 11 months of age. The seizures were initially refractory, but eventually were controlled. Brain imaging showed mild enlargement of extraaxial spaces and slight thinning of the corpus callosum. Neither patient showed classic dysmorphic features suggestive of CDLS, thus expanding the phenotypic spectrum. </p><p>Jansen et al. (2016) reported 2 unrelated female patients with DEE85. Patient 1 was a 46-year-old woman with severe developmental delay apparent from infancy. She had impaired intellectual development with absent language and inability to crawl or walk. At age 9 months, she developed refractory seizures associated with EEG abnormalities. She also had a history of cleft palate. Physical examination as an adult showed small head circumference (-2.5 SD), short stature, low anterior hairline, flat midface, straight eyebrows with deep-set eyes, long small ears, long nose, short philtrum, disorganized dentition, small hand with tapering fingers, and contractures of the fingers and toes. Other features included axial hypotonia, peripheral spasticity, visual impairment, myopia, and scoliosis. Brain imaging showed enlarged ventricles and cerebellar hypoplasia. The other patient was a 14-year-old girl who developed refractory generalized seizures at 2 months of age. She had global developmental delay with loss of ambulation in childhood, severely impaired intellectual development with absent speech, hypotonia, poor feeding requiring a G-tube, and poor overall growth with small head circumference (-2.5 SD). Dysmorphic features included trigonocephaly, upslanting palpebral fissures, blepharophimosis, posteriorly rotated ears, full cheeks, full lips, short philtrum gingival hyperplasia, and small hands with slender fingers. Jansen et al. (2016) concluded that the phenotype in these patients was distinct from CDLS2. </p><p>Symonds et al. (2017) reported 10 unrelated girls with early-onset refractory seizures, 8 of whom were probands identified through the DDD cohort based on exome sequencing. A ninth patient was a sister of one of the 8 probands, and a tenth patient was identified through analysis of a custom gene panel. All presented with drug-resistant epilepsy within the first months of life (median, 4.5 months), although 2 patients eventually became seizure-free. Seizure types were variable, including afebrile motor seizures, tonic-clonic, clonic, focal, myoclonic, absence, and generalized. EEG showed focal or multifocal abnormalities, spike and sharp-wave complexes, and generalized background slowing; some patients had status epilepticus. The seizures tended to occur in clusters in a cyclic pattern. The patients had moderate to profound developmental delay with delayed walking or inability to walk, impaired intellectual development and absent language, hypotonia, and poor growth with short stature and progressive microcephaly. Four patients had congenital cardiac anomalies, mainly septal defects, 2 had cleft palate, and 2 had bifid thoracic vertebrae. Dysmorphic features included flattened midface, short upturned nose, and shallow philtrum. Brain imaging was normal in 5 patients and showed nonspecific anomalies in 2, whereas 3 had variable midline brain defects, including small cavum septum vergae, thin corpus callosum, and semilobar holoprosencephaly, respectively. Of 2 affected sisters, one (patient 9) had semilobar HPE and died at 11 months of age; the other (patient 8), who carried the same mutation, had no structural organ anomalies, no dysmorphic features, and normal brain MRI. None of the patients were considered clinically to have features of CDLS before the genetic analysis, and the authors suggested that the phenotype was not only distinct from, but also more severe than CDLS. </p><p><strong><em>Patients with Significant Midline Brain Defects</em></strong></p><p>
Kruszka et al. (2019) reported 5 unrelated girls (patients 7-11), ranging in age from 15 months to 6 years, with early-onset epileptic encephalopathy and midline brain defects. The patients were ascertained due to holoprosencephaly. Four patients had early-onset seizures; seizures were not reported in a 15-month-old girl. Three patients had semilobar HPE, 1 had triventricular ectasia, and 1 had middle interhemispheric HPE. All had microcephaly, and most had dysmorphic facial features, including brachycephaly, sloping forehead, arched eyebrows, synophrys, midface flattening, bitemporal narrowing, depressed nasal bridge, upslanting palpebral fissures, and single central incisor. Additional common but variable features included growth delay, small hands and feet, and feeding problems. One patient had spina bifida and another had patent foramen ovale. </p>
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<strong>Inheritance</strong>
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<p>The heterozygous mutations in the SMC1A gene that were identified in female patients with DEE85 with or without midline brain defects by Goldstein et al. (2015), Jansen et al. (2016), and Kruszka et al. (2019) occurred de novo. </p>
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<strong>Molecular Genetics</strong>
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<p>In an 11-year-old Swiss girl with DEE85, Hansen et al. (2013) identified a de novo heterozygous mutation (c.1731G-A, E577E) in the SMC1A gene, predicted to result in a splicing defect. Functional studies of the variant and studies of patient cells were not performed. </p><p>In a 7-year-old girl, born of unrelated Portuguese parents, with DEE85, Lebrun et al. (2015) identified a de novo heterozygous splice site mutation in the SMC1A gene (300040.0007). The mutation was found by exome sequencing and confirmed by Sanger sequencing. Analysis of patient fibroblasts showed the presence of only the mutant transcript, which was significantly reduced compared to controls, suggesting nonsense-mediated mRNA decay and a loss of function (LOF). </p><p>In 2 unrelated girls with DEE85, Goldstein et al. (2015) identified de novo heterozygous frameshift mutations in the SMC1A gene (300040.0008 and 300040.0009). The mutations were found by whole-exome sequencing and confirmed by Sanger sequencing. X-inactivation studies in peripheral blood cells showed a skewed pattern (93:7) in 1 patient, but a random pattern in the other. Additional functional studies of the variants and studies of patient cells were not performed. </p><p>In 2 unrelated females with DEE85, Jansen et al. (2016) identified de novo heterozygous LOF mutations in the SMC1A gene (see, e.g., 300040.0010). The mutations were found by whole-genome sequencing. X-inactivation studies in 1 patient showed a random pattern, whereas it was skewed in the other patient (85:15); additional functional studies were not performed. Jansen et al. (2016) concluded that the de novo LOF mutations in the SMC1A gene in females cause an abnormal dosage effect and that the resulting phenotype is distinct from CDLS2. The authors further suggested that LOF mutations in males may be embryonic lethal. </p><p>In 10 unrelated females with DEE85, Symonds et al. (2017) identified de novo heterozygous nonsense, frameshift, or splice site mutations in the SMC1A gene (see, e.g., 300040.0011-300040.0013). Functional studies of the variants were not performed. X-inactivation studies, performed in some patients, had variable results: some showed a random pattern, whereas others had a skewed pattern. Symonds et al. (2017) speculated that if SMC1A escapes X inactivation, then haploinsufficiency is unlikely to be the causative mechanism; rather, the authors postulated a dominant-negative effect. The findings also suggested that complete SMC1A deficiency is embryonic lethal, as no males with such mutations have been reported. </p><p>In 5 unrelated girls (patients 7-11) with DEE85 and variable midline brain defects, including holoprosencephaly (HPE), Kruszka et al. (2019) identified de novo heterozygous mutations in the SMC1A gene (see, e.g., 300040.0014 and 300040.0015). All mutations except 1 were nonsense, frameshift, or splice site mutations, suggesting a loss-of-function effect; there was 1 missense mutation. Functional studies of the variants and studies of patient cells were not performed. Knockdown of the SMC1A gene in human neural progenitor cells resulted in upregulation of GLI2 (165230), ZIC2 (603073), and SMAD3 (603109) gene expression. Although the significance of these findings was unclear, they demonstrated that loss of SMC1A perturbs the expression of genes involved in HPE. The patients were part of a cohort of 277 individuals with HPE as well as gathered through collaborative efforts such as GeneMatcher. </p>
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<strong>REFERENCES</strong>
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Goldstein, J. H. R., Tim-aroon, T., Shieh, J., Merrill, M., Deeb, K. K., Zhang, S., Bass, N. E., Bedoyan, J. K.
<strong>Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.</strong>
Europ. J. Med. Genet. 58: 562-568, 2015.
[PubMed: 26386245]
[Full Text: https://doi.org/10.1016/j.ejmg.2015.09.007]
</p>
</li>
<li>
<p class="mim-text-font">
Hansen, J., Mohr, J., Burki, S., Lemke, J. R.
<strong>A case of cohesinopathy with a novel de-novo SMC1A splice site mutation.</strong>
Clin. Dysmorph. 22: 143-145, 2013.
[PubMed: 23863341]
[Full Text: https://doi.org/10.1097/MCD.0b013e3283645439]
</p>
</li>
<li>
<p class="mim-text-font">
Jansen, S., Kleefstra, T., Willemsen, M. H., de Vries, P., Pfundt, R., Hehir-Kwa, J. Y., Gilissen, C., Veltman, J. A., de Vries, B. B. A., Vissers, L. E. L. M.
<strong>De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum.</strong>
Clin. Genet. 90: 413-419, 2016.
[PubMed: 26752331]
[Full Text: https://doi.org/10.1111/cge.12729]
</p>
</li>
<li>
<p class="mim-text-font">
Kruszka, P., Berger, S. I., Casa, V., Dekker, M. R., Gaesser, J., Weiss, K., Martinez, A. F., Murdock, D. R, Louie, R. J., Prijoles, E. J., Lichty, A. W., Brouwer, O. F., and 23 others.
<strong>Cohesin complex-associated holoprosencephaly.</strong>
Brain 142: 2631-2643, 2019.
[PubMed: 31334757]
[Full Text: https://doi.org/10.1093/brain/awz210]
</p>
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<li>
<p class="mim-text-font">
Lebrun, N., Lebon, S., Jeannet, P.-Y., Jacquemont, S., Billuart, P., Bienvenu, T.
<strong>Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.</strong>
Am. J. Med. Genet. 167A: 3076-3081, 2015.
[PubMed: 26358754]
[Full Text: https://doi.org/10.1002/ajmg.a.37364]
</p>
</li>
<li>
<p class="mim-text-font">
Symonds, J. D., Joss, S., Metcalfe, K. A., Somarathi, S., Cruden, J., Devlin, A. M., Donaldson, A., DiDonato, N., Fitzpatrick, D., Kaiser, F. J., Lampe, A. K., Lees, M. M., and 13 others.
<strong>Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: detailed phenotyping of 10 new cases.</strong>
Epilepsia 58: 565-575, 2017.
[PubMed: 28166369]
[Full Text: https://doi.org/10.1111/epi.13669]
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