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- #610443 - KOOLEN-DE VRIES SYNDROME; KDVS
- OMIM
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<span class="h4">#610443</span>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/610443"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS156200"> <strong>Phenotypic Series</strong> </a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#populationGenetics">Population Genetics</a>
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<div><a href="https://clinicaltrials.gov/search?cond=KOOLEN-DE VRIES SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://decipher.sanger.ac.uk/syndrome/57" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">&#9658;</span>EuroGentest</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=22350&Typ=Pat" title="17q21.31 microdeletion syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">17q21.31 microdeletion syn…&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=22351&Typ=Pat" title="Koolen-De Vries syndrome due to a point mutation" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Koolen-De Vries syndrome d…&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12793&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Koolen-De Vries syndrome&nbsp;</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK24676/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/koolen-de-vries-syndrome" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">&#9658;</span>Orphanet</div>
<div id="mimOrphanetFold" class="collapse">
<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363958" title="17q21.31 microdeletion syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">17q21.31 microdeletion syn…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363965" title="Koolen-De Vries syndrome due to a point mutation" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Koolen-De Vries syndrome d…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=96169" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Koolen-De Vries syndrome</a></div>
</div>
<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/e86ca4bd-5357-4e59-9c26-1261007ee4e0/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
<span class="small">
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0050880" 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/610443" 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>
</div>
</div>
</div>
</div>
</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
</span>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 717338006<br />
<strong>ORPHA:</strong> 363958, 363965, 96169<br />
<strong>DO:</strong> 0050880<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
610443
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
KOOLEN-DE VRIES SYNDROME; KDVS
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
CHROMOSOME 17q21.31 DELETION SYNDROME<br />
MICRODELETION 17q21.31 SYNDROME
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/665?start=-3&limit=10&highlight=665">
17q21.31
</a>
</span>
</td>
<td>
<span class="mim-font">
Koolen-De Vries syndrome
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610443"> 610443 </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">
KANSL1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612452"> 612452 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/610443" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS156200" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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<span class="sr-only">Toggle Dropdown</span>
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&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/610443" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/610443" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Height </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short stature (35%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Weight </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Low birth weight (27%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276610007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276610007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/267258002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">267258002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024032&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024032</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001518</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Other </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Intrauterine growth retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22033007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22033007</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/764.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">764.90</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/764.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">764.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015934&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015934</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001511" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001511</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001511" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001511</a>]</span><br /> -
Failure to thrive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432788009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432788009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015544</a>, <a href="https://bioportal.bioontology.org/search?q=C2315100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2315100</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</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> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Long face (74%) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836047&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836047</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000276" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000276</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000276" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000276</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=729bf273c6a346c2f07ab0965824ffb2" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Face,Long-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=729bf273c6a346c2f07ab0965824ffb2&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 /> -
High, broad forehead (68%) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834761&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834761</a>]</span><br /> -
Broad chin (42%) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4023172&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4023172</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011822</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011822</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=5c6194ffdd339c9e108e81435805bcc1" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Chin,Broad-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=5c6194ffdd339c9e108e81435805bcc1&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">
- Large, prominent ears (59%) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860838&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860838</a>]</span><br /> -
Anteverted ears <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857055&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857055</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040080" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040080</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040080" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040080</a>]</span><br /> -
Overfolded helices <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837731&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837731</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000396" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000396</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000396" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000396</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">
- Hypermetropia (36%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38101003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38101003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H52.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H52.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/367.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">367.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020490&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020490</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000540" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000540</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000540" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000540</a>]</span><br /> -
Pale irides (45%) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674558&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674558</a>]</span><br /> -
Strabismus (45%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22066006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22066006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038379</a>, <a href="https://bioportal.bioontology.org/search?q=C2020541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2020541</a>, <a href="https://bioportal.bioontology.org/search?q=C1423541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1423541</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span><br /> -
Upward-slanted palpebral fissures (68%) <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><br /> -
Blepharophimosis (36%) <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 /> -
Ptosis (50%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11934000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11934000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29696001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29696001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.409" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.409</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/374.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.3</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/374.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005745&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005745</a>, <a href="https://bioportal.bioontology.org/search?q=C0033377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033377</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Ptosis-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Epicanthal folds (68%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74824007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74824007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0678230&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0678230</a>, <a href="https://bioportal.bioontology.org/search?q=C0229249&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0229249</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000286</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000286</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">
- Tubular nose (82%) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3810017&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3810017</a>]</span><br /> -
Pear-shaped nose (82%) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853482&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853482</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000447" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000447</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000447" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000447</a>]</span><br /> -
Bulbous nasal tip (95%) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855751&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855751</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000414" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000414</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000414" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000414</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=50ff569bd76b9a6cd5dba7aabce89564" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Nose,Bulbous-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=50ff569bd76b9a6cd5dba7aabce89564&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 /> -
High nasal bridge <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854113&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854113</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000426" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000426</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000426" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000426</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=25fd1a02ef10b4687f73378521b408f6" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Nasal_Bridge,Prominent-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=25fd1a02ef10b4687f73378521b408f6&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- High, narrow palate (50%) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837404&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837404</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002705" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002705</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002705" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002705</a>]</span><br /> -
Cleft lip <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80281008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80281008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q36" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q36</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q36.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q36.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0008924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008924</a>, <a href="https://bioportal.bioontology.org/search?q=C4321245&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4321245</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000204" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000204</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0410030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0410030</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0410030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0410030</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 /> -
Everted lower lip <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/767502001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">767502001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853246&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853246</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000232" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000232</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000232" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000232</a>]</span><br /> -
Open mouth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/262016004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">262016004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240379</a>, <a href="https://bioportal.bioontology.org/search?q=C4285242&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4285242</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000194" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000194</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000194" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000194</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Teeth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Small widely spaced teeth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860852&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860852</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">
- Heart defects (40%) <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><br /> -
Atrial septal defect <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253366007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253366007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405752007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405752007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70142008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70142008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018817</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001631" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001631</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001631" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001631</a>]</span><br /> -
Ventricular septal defect <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30288003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30288003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253549006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253549006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/768552007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">768552007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/745.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018818&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018818</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001629</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001629</a>]</span><br /> -
Pulmonary valve stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56786000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56786000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034089&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034089</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001642" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001642</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001642" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001642</a>]</span><br /> -
Bicuspid aortic valve <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72352009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72352009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q23.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q23.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5193127&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5193127</a>, <a href="https://bioportal.bioontology.org/search?q=C0149630&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0149630</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001647" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001647</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001647" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001647</a>]</span><br /> -
Aortic dilatation (reported in 1 patient) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26660001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26660001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I71.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I71.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/I77.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I77.81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/447.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">447.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265004&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265004</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004942" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004942</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004942" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004942</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> RESPIRATORY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Larynx </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Tracheo/laryngomalacia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4539219&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4539219</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CHEST </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Ribs Sternum Clavicles & Scapulae </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Pectus abnormalities (23%) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4693855&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4693855</a>]</span><br /> -
Widely spaced nipples <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/423230008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">423230008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1827524&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1827524</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006610" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006610</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006610" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006610</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 />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Kidney/urologic anomalies (45%) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4539215&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4539215</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Internal Genitalia (Male) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cryptorchidism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204878001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204878001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q53.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q53.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010417&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010417</a>, <a href="https://bioportal.bioontology.org/search?q=C5441920&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441920</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Kidneys </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hydronephrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43064006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43064006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.30</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/591" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">591</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020295&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020295</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000126</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000126</a>]</span><br /> -
Duplex renal system <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674536&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674536</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Bladder </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Vesicoureteric reflux <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197811007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197811007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.70</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/593.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">593.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042580&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042580</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000076" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000076</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000076" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000076</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>
<span class="mim-font">
- Hypermobile joints <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866237&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866237</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Spine </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Scoliosis/kyphosis (36%) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4230850&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4230850</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Pelvis </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hip dislocation (27%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/157265008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">157265008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/S73.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">S73.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/835" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">835</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019554&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019554</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002827" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002827</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002827" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002827</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Limbs </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Slender lower limbs (41%) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674539&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674539</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Narrow hands (28%) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857632&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857632</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004283" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004283</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004283" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004283</a>]</span><br /> -
Long, slender fingers (61%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62250003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62250003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003706</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001166" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001166</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001519" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001519</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001166" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001166</a>]</span><br /> -
Hypoplasia of the hand muscles (29%) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2750637&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2750637</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Positional foot deformity (27%) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4025161&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4025161</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005656" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005656</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005656" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005656</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> Skin </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Ectodermal abnormalities (67%) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4539218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4539218</a>]</span><br /> -
Dry skin <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52475004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52475004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E50.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E50.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0043345&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0043345</a>, <a href="https://bioportal.bioontology.org/search?q=C0720057&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0720057</a>, <a href="https://bioportal.bioontology.org/search?q=C0151908&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151908</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000958" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000958</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000958" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000958</a>]</span><br /> -
Eczema <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43116000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43116000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L30.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L30.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013595&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013595</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000964" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000964</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000964" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000964</a>]</span><br /> -
Pigmentary abnormalities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552307&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552307</a>]</span><br /> -
Sacral dimple <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/311897005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">311897005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L05.91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L05.91</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426848&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426848</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000960" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000960</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000960" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000960</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hair </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Abnormal hair pigmentation (55%) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674545&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674545</a>]</span><br /> -
Abnormal hair texture (55%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/5149003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">5149003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235807&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235807</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MUSCLE, SOFT TISSUES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br /> -
Hypoplasia of the hand muscles (29%) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2750637&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2750637</a>]</span><br />
</span>
</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">
- Developmental delay (100%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248290002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248290002</a>, <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">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/315.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">315.9</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>, <a href="https://bioportal.bioontology.org/search?q=C0424605&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424605</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 /> -
Mental retardation, mild to severe <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837502&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837502</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
Poor speech development <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/229721007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">229721007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241210&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241210</a> 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> <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 /> -
Hypotonia (96%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br /> -
Seizures (50%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
Structural brain abnormalities, variable (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5233202&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5233202</a>]</span><br /> -
Ventriculomegaly (38%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413808003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413808003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1531647&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1531647</a>, <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 /> -
Hypoplastic corpus callosum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204043002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204043002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0344482&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344482</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002079" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002079</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002079" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002079</a>]</span><br /> -
Abnormal hippocampi <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674113&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674113</a>]</span><br /> -
Heterotopia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/719446000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">719446000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253150002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253150002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/128490007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">128490007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/417338002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">417338002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/448041008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">448041008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0008519&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008519</a>, <a href="https://bioportal.bioontology.org/search?q=C0266491&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266491</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002282" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002282</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002282" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002282</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Behavioral Psychiatric Manifestations </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Friendly behavior (89%) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0679182&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0679182</a>]</span><br /> -
Autistic features <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846135&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846135</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000729" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000729</a>]</span><br /> -
Hyperactivity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44548000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44548000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424295&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424295</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000752" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000752</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000752" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000752</a>]</span><br /> -
Anxiety <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48694002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48694002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197480006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197480006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F41.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F41.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003469&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003469</a>, <a href="https://bioportal.bioontology.org/search?q=C0003467&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003467</a>, <a href="https://bioportal.bioontology.org/search?q=C0860603&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0860603</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000739" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000739</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000739" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000739</a>]</span><br /> -
Impulsivity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0021125&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0021125</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100710" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100710</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100710" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100710</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> VOICE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Nasal speech (50%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/289190003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">289190003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0566620&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0566620</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001611" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001611</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001611" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001611</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- De novo mutation Estimated prevalence of 1 in 16,000<br /> -
Contiguous gene deletion of 17q21.3 involves a region which harbors a 900kb inversion polymorphism<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 KAT8 regulatory NSL complex subunit 1 gene (KANSL1, <a href="/entry/612452#0001">612452.0001</a>)<br /> -
Contiguous gene syndrome caused by microdeletion (600-800kb) of chromosome 17q21.31 encompassing genes CRHR1 (<a href="/entry/122561">122561</a>), MAPT (<a href="/entry/157140">157140</a>), STH (<a href="/entry/607067">607067</a>), IMP5 (<a href="/entry/608284">608284</a>), and KANSL1 (<a href="/entry/612452">612452</a>)<br />
</span>
</div>
</div>
</div>
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
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<h5>
Intellectual developmental disorder, autosomal dominant
- <a href="/phenotypicSeries/PS156200">PS156200</a>
- 67 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/1/326?start=-3&limit=10&highlight=326"> 1p36.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614607"> Coffin-Siris syndrome 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614607"> 614607 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603024"> ARID1A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603024"> 603024 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1100?start=-3&limit=10&highlight=1100"> 1q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616364"> White-Sutton 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/616364"> 616364 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614787"> POGZ </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614787"> 614787 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1175?start=-3&limit=10&highlight=1175"> 1q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615074"> GAND 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/615074"> 615074 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614998"> GATAD2B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614998"> 614998 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1225?start=-3&limit=10&highlight=1225"> 1q22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617796"> Intellectual developmental disorder, autosomal dominant 52 </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/617796"> 617796 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607999"> ASH1L </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607999"> 607999 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1484?start=-3&limit=10&highlight=1484"> 1q25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620988"> Intellectual developmental disorder, autosomal dominant 75 </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/620988"> 620988 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603115"> DHX9 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603115"> 603115 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1846?start=-3&limit=10&highlight=1846"> 1q44 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612337"> Intellectual developmental disorder, autosomal dominant 22 </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/612337"> 612337 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608433"> ZBTB18 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608433"> 608433 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/15?start=-3&limit=10&highlight=15"> 2p25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616521"> Intellectual developmental disorder, autosomal dominant 39 </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/616521"> 616521 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613084"> MYT1L </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613084"> 613084 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/483?start=-3&limit=10&highlight=483"> 2q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617863"> ?Intellectual developmental disorder, autosomal dominant 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/617863"> 617863 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609552"> LMAN2L </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609552"> 609552 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/679?start=-3&limit=10&highlight=679"> 2q23.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/156200"> Intellectual developmental disorder, autosomal dominant 1 </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/156200"> 156200 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611472"> MBD5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611472"> 611472 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/31?start=-3&limit=10&highlight=31"> 3p25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615761"> Intellectual developmental disorder, autosomal dominant 23 </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/615761"> 615761 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615743"> SETD5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615743"> 615743 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/262?start=-3&limit=10&highlight=262"> 3p21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620157"> Intellectual developmental disorder, autosomal dominant 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/620157"> 620157 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612778"> SETD2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612778"> 612778 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/707?start=-3&limit=10&highlight=707"> 3q22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617635"> Intellectual developmental disorder, autosomal dominant 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/617635"> 617635 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604358"> STAG1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604358"> 604358 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/873?start=-3&limit=10&highlight=873"> 3q26.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616944"> Intellectual developmental disorder, autosomal dominant 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/616944"> 616944 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608628"> TBL1XR1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608628"> 608628 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/910?start=-3&limit=10&highlight=910"> 3q27.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618587"> Intellectual developmental disorder 60 with seizures </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/618587"> 618587 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601024"> AP2M1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601024"> 601024 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/564?start=-3&limit=10&highlight=564"> 4q31.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617787"> Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities </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/617787"> 617787 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608000"> NAA15 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608000"> 608000 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/58?start=-3&limit=10&highlight=58"> 5p15.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618825"> Intellectual developmental disorder, autosomal dominant 63, with macrocephaly </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/618825"> 618825 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601893"> TRIO </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601893"> 601893 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/58?start=-3&limit=10&highlight=58"> 5p15.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617061"> Intellectual developmental disorder, autosomal dominant 44, with microcephaly </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/617061"> 617061 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601893"> TRIO </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601893"> 601893 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/260?start=-3&limit=10&highlight=260"> 5q13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616351"> Neurodevelopmental disorder with hypotonia, speech delay, and dysmorphic facies </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/616351"> 616351 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604677"> CERT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604677"> 604677 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/665?start=-3&limit=10&highlight=665"> 5q32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617798"> Intellectual developmental disorder, autosomal dominant 53 </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/617798"> 617798 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114078"> CAMK2A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114078"> 114078 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/693?start=-3&limit=10&highlight=693"> 5q33.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619927"> Intellectual developmental disorder, autosomal dominant 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/619927"> 619927 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138248"> GRIA1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138248"> 138248 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/401?start=-3&limit=10&highlight=401"> 6p21.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612621"> Intellectual developmental disorder, autosomal dominant 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/612621"> 612621 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603384"> SYNGAP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603384"> 603384 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/639?start=-3&limit=10&highlight=639"> 6q13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617601"> Intellectual developmental disorder, autosomal dominant 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/617601"> 617601 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607357"> KCNQ5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607357"> 607357 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/691?start=-3&limit=10&highlight=691"> 6q14.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619188"> Intellectual developmental disorder, autosomal dominant 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/619188"> 619188 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616213"> ZNF292 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616213"> 616213 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/811?start=-3&limit=10&highlight=811"> 6q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617831"> Intellectual developmental disorder, autosomal dominant 55, with seizures </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/617831"> 617831 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610463"> NUS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610463"> 610463 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/913?start=-3&limit=10&highlight=913"> 6q24.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616977"> Intellectual developmental disorder, autosomal dominant 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/616977"> 616977 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/143054"> HIVEP2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/143054"> 143054 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/977?start=-3&limit=10&highlight=977"> 6q25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/135900"> Coffin-Siris syndrome 1 </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/135900"> 135900 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614556"> ARID1B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614556"> 614556 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/57?start=-3&limit=10&highlight=57"> 7p22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617751"> Intellectual developmental disorder, autosomal dominant 48 </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/617751"> 617751 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602048"> RAC1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602048"> 602048 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/232?start=-3&limit=10&highlight=232"> 7p13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617799"> Intellectual developmental disorder, autosomal dominant 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/617799"> 617799 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607707"> CAMK2B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607707"> 607707 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/305?start=-3&limit=10&highlight=305"> 7q11.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615834"> Intellectual developmental disorder, autosomal dominant 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/615834"> 615834 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607270"> AUTS2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607270"> 607270 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/845?start=-3&limit=10&highlight=845"> 7q36.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616311"> Intellectual developmental disorder, autosomal dominant 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/616311"> 616311 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/126141"> DPP6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/126141"> 126141 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/4?start=-3&limit=10&highlight=4"> 9p24 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614113"> Intellectual developmental disorder, autosomal dominant 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved"> 4 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614113"> 614113 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614113"> MRD2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614113"> 614113 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/550?start=-3&limit=10&highlight=550"> 9q34.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618106"> Intellectual developmental disorder, autosomal dominant 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/618106"> 618106 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600960"> SET </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600960"> 600960 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/704?start=-3&limit=10&highlight=704"> 9q34.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610253"> Kleefstra syndrome 1 </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/610253"> 610253 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607001"> EHMT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607001"> 607001 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/6?start=-3&limit=10&highlight=6"> 10p15.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616083"> Intellectual developmental disorder, autosomal dominant 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/616083"> 616083 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608668"> ZMYND11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608668"> 608668 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/310?start=-3&limit=10&highlight=310"> 10q22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618522"> Intellectual developmental disorder, autosomal dominant 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/618522"> 618522 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602123"> CAMK2G </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602123"> 602123 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/37?start=-3&limit=10&highlight=37"> 11p15.5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615828"> Vulto-van Silfout-de Vries 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/615828"> 615828 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602635"> DEAF1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602635"> 602635 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/588?start=-3&limit=10&highlight=588"> 11q13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618027"> Coffin-Siris syndrome 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/618027"> 618027 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601671"> DPF2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601671"> 601671 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/624?start=-3&limit=10&highlight=624"> 11q13.1-q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615009"> Schuurs-Hoeijmakers 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/615009"> 615009 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607492"> PACS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607492"> 607492 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/681?start=-3&limit=10&highlight=681"> 11q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617788"> Intellectual developmental disorder, autosomal dominant 51 </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/617788"> 617788 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610881"> KMT5B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610881"> 610881 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/1047?start=-3&limit=10&highlight=1047"> 11q24.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612581"> Intellectual developmental disorder, autosomal dominant 4 </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612581"> 612581 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612581"> MRD4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612581"> 612581 </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/613970"> Intellectual developmental disorder, autosomal dominant 6, with or without seizures </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/613970"> 613970 </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/12/305?start=-3&limit=10&highlight=305"> 12q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617808"> Coffin-Siris syndrome 6 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617808"> 617808 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609539"> ARID2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609539"> 609539 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/376?start=-3&limit=10&highlight=376"> 12q13.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/136630"> Intellectual developmental disorder, autosomal dominant, FRA12A type </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/136630"> 136630 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611379"> DIP2B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611379"> 611379 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/501?start=-3&limit=10&highlight=501"> 12q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618362"> Coffin-Siris syndrome 8 </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/618362"> 618362 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601734"> SMARCC2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601734"> 601734 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/672?start=-3&limit=10&highlight=672"> 12q21.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619910"> Intellectual developmental disorder, autosomal dominant 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/619910"> 619910 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/108731"> ATP2B1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/108731"> 108731 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/51?start=-3&limit=10&highlight=51"> 14q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620688"> Intellectual developmental disorder, autosomal dominant 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/620688"> 620688 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/164020"> HNRNPC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/164020"> 164020 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/239?start=-3&limit=10&highlight=239"> 15q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620330"> Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities </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/620330"> 620330 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612660"> RFX7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612660"> 612660 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/115?start=-3&limit=10&highlight=115"> 16p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620439"> Intellectual developmental disorder, autosomal dominant 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/620439"> 620439 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606032"> SRRM2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606032"> 606032 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/552?start=-3&limit=10&highlight=552"> 16q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615502"> Intellectual developmental disorder, autosomal dominant 21 </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/615502"> 615502 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604167"> CTCF </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604167"> 604167 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/743?start=-3&limit=10&highlight=743"> 16q24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612580"> Intellectual developmental disorder, autosomal dominant 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612580"> 612580 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114019"> CDH15 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/114019"> 114019 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/138?start=-3&limit=10&highlight=138"> 17p13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618793"> Intellectual developmental disorder, autosomal dominant 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/618793"> 618793 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602887"> DLG4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602887"> 602887 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/519?start=-3&limit=10&highlight=519"> 17q21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616938"> Coffin-Siris syndrome 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/616938"> 616938 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603111"> SMARCE1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603111"> 603111 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/665?start=-3&limit=10&highlight=665"> 17q21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610443"> Koolen-De Vries 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/610443"> 610443 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612452"> KANSL1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612452"> 612452 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/806?start=-3&limit=10&highlight=806"> 17q23.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617854"> Intellectual developmental disorder, autosomal dominant 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/617854"> 617854 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118955"> CLTC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118955"> 118955 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/826?start=-3&limit=10&highlight=826"> 17q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618009"> Intellectual developmental disorder, autosomal dominant 61 </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/618009"> 618009 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603808"> MED13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603808"> 603808 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/829?start=-3&limit=10&highlight=829"> 17q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618050"> Intellectual developmental disorder, autosomal dominant 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/618050"> 618050 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608439"> TLK2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608439"> 608439 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/18/150?start=-3&limit=10&highlight=150"> 18q12.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616078"> Intellectual developmental disorder, autosomal dominant 29 </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/616078"> 616078 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611060"> SETBP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611060"> 611060 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/153?start=-3&limit=10&highlight=153"> 19p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619320"> Intellectual developmental disorder, autosomal dominant 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/619320"> 619320 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609765"> KDM4B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609765"> 609765 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/287?start=-3&limit=10&highlight=287"> 19p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614609"> Coffin-Siris syndrome 4 </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/614609"> 614609 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603254"> SMARCA4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603254"> 603254 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/595?start=-3&limit=10&highlight=595"> 19q13.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619934"> Intellectual developmental disorder, autosomal dominant 68 </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/619934"> 619934 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606834"> KMT2B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606834"> 606834 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/752?start=-3&limit=10&highlight=752"> 19q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617600"> Intellectual developmental disorder, autosomal dominant 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/617600"> 617600 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612082"> CIC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612082"> 612082 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/254?start=-3&limit=10&highlight=254"> 20q11.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614257"> ?Intellectual developmental disorder, autosomal dominant 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/614257"> 614257 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602879"> EPB41L1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602879"> 602879 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/439?start=-3&limit=10&highlight=439"> 20q13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620450"> Intellectual developmental disorder, autosomal dominant 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/620450"> 620450 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601796"> TAF4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601796"> 601796 </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/616393"> Intellectual developmental disorder, autosomal dominant 38 </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/616393"> 616393 </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/21/100?start=-3&limit=10&highlight=100"> 21q22.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614104"> Intellectual developmental disorder, autosomal dominant 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/614104"> 614104 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600855"> DYRK1A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600855"> 600855 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/103?start=-3&limit=10&highlight=103"> 22q11.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614608"> Coffin-Siris syndrome 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614608"> 614608 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601607"> SMARCB1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601607"> 601607 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/226?start=-3&limit=10&highlight=226"> 22q12.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614256"> ?Intellectual developmental disorder, autosomal dominant 10 </a>
</span>
</td>
<td>
<span class="mim-font">
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<a href="/entry/602911"> CACNG2 </a>
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<a href="/entry/602911"> 602911 </a>
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<p>A number sign (#) is used with this entry because Koolen-de Vries syndrome (KDVS) can be caused by heterozygous mutation in the KANSL1 gene (<a href="/entry/612452">612452</a>) on chromosome 17q21.31 or by contiguous gene deletion on chromosome 17q21.31.</p><p>See also chromosome 17q21.31 duplication syndrome (<a href="/entry/613533">613533</a>).</p>
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<p>Koolen-de Vries syndrome (KDVS) is characterized by moderately to severely impaired intellectual development, hypotonia, friendly demeanor, and highly distinctive facial features, including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. More variable features include cardiac or genitourinary anomalies and seizures (summary by <a href="#7" class="mim-tip-reference" title="Koolen, D. A., Kramer, J. M., Neveling, K., Nillesen, W. M., Moore-Barton, H. L., Elmslie, F. V., Toutain, A., Amiel, J., Malan, V., Tsai, A. C.-H., Cheung, S. W., Gilissen, C., and 13 others. &lt;strong&gt;Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.&lt;/strong&gt; Nature Genet. 44: 639-641, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22544363/&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;22544363&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.2262&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="22544363">Koolen et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22544363" 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>Using array-based comparative genomic hybridization (array CGH) in a study of 1,200 mentally retarded individuals, <a href="#10" class="mim-tip-reference" title="Koolen, D. A., Vissers, L. E. L. M., Pfundt, R., de Leeuw, N., Knight, S. J. L., Regan, R., Kooy, R. F., Reyniers, E., Romano, C., Fichera, M., Schinzel, A., Baumer, A., Anderlid, B.-M., Schoumans, J., Knoers, N. V., van Kessel, A. G., Sistermans, E. A., Veltman, J. A., Brunner, H. G., de Vries, B. B. A. &lt;strong&gt;A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.&lt;/strong&gt; Nature Genet. 38: 999-1001, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16906164/&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;16906164&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1853&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="16906164">Koolen et al. (2006)</a> identified 3 individuals with interstitial, overlapping 17q21.31 microdeletions and a clearly recognizable clinical phenotype of mental retardation, hypotonia, and characteristic face. All 3 individuals showed severe hypotonia from birth onwards, leading to severely delayed motor development. None of the individuals could stand and/or walk before the age of 3 years. Facial features included long hypotonic face with ptosis, blepharophimosis, large and low-set ears, tubular pear-shaped nose with bulbous nasal tip, long columella with hypoplastic alae nasi, and a broad chin. In addition, they all had long fingers, nasal speech, and an amiable and friendly disposition. The deletions encompassed the MAPT (<a href="/entry/157140">157140</a>) and CRHR1 (<a href="/entry/122561">122561</a>) genes and were associated with a common inversion polymorphism. All 3 deletions were confirmed by fluorescence in situ hybridization and shown to have arisen de novo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16906164" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Koolen, D. A., Sharp, A. J., Hurst, J. A., Firth, H. V., Knight, S. J. L., Goldenberg, A., Saugier-Veber, P., Pfundt, R., Vissers, L. E. L. M., Destree, A., Grisart, B., Rooms, L., and 36 others. &lt;strong&gt;Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.&lt;/strong&gt; J. Med. Genet. 45: 710-720, 2008. Note: Erratum: J. Med. Genet. 46: 576 only, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18628315/&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;18628315&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=18628315[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2008.058701&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="18628315">Koolen et al. (2008)</a> described the clinical and molecular features of 22 patients with 17q21.31 deletion syndrome, including 11 previously reported patients and 11 newly ascertained patients. Common features included developmental delay with mild to moderate mental retardation, characteristic facies with long face, high forehead, large, prominent ears, upward-slanting palpebral fissures, epicanthal folds, bulbous nasal tip, pear-shaped nose, and long, slender features. Other features included cardiac septal defects, seizures, and cryptorchidism. Most patients had a friendly demeanor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18628315" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Tan, T. Y., Aftimos, S., Worgan, L., Susman, R., Wilson, M., Ghedia, S., Kirk, E. P., Love, D., Ronan, A., Darmanian, A., Slavotinek, A., Hogue, J., Moeschler, J. B., Ozmore, J., Widmer, R., Bruno, D., Savarirayan, R., Peters, G. &lt;strong&gt;Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome. (Letter)&lt;/strong&gt; J. Med. Genet. 46: 480-489, 2009. Note: Erratum: J. Med. Genet. 46: 576 only, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19447831/&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;19447831&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2008.065391&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="19447831">Tan et al. (2009)</a> reported 11 patients with the 17q21.31 deletion syndrome. The facial appearance was characterized by a long face with tall or broad forehead, upslanting palpebral fissures, anteverted ears with thickened or overfolded helices, tubular or pear-shaped nose with bulbous tip, and frequently open mouth. The facial features became more distinctive in early childhood compared to infancy. All patients had hypotonia, global delay, and expressive language delay, and most had a friendly disposition. Congenital cardiac defects included pulmonary stenosis in 3 (27.3%), septal defects in 2 (18.2%), and bicuspid aortic valve in 2 (18.2%), and 1 patient had a dilated aortic root. Other features included urologic anomalies, such as cryptorchidism, hypospadias, vesicoureteric reflux, duplex kidney, renal scarring, and hydronephrosis, and CNS anomalies, such as seizures, corpus callosum defects, and ventriculomegaly. Joint hypermobility and/or hip dislocation/dysplasia were commonly seen, as were ectodermal anomalies of the hair, skin, and teeth. Previously unreported features included persistent fetal fingertip pads, recurrent elbow dislocation, conductive hearing loss, dental abnormalities, and hypertension due to renal scarring. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19447831" 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 study of copy number variants (CNVs) in 15,767 children with intellectual disability and various congenital defects (cases) compared to CNVs in 8,329 unaffected adult controls, <a href="#4" class="mim-tip-reference" title="Cooper, G. M., Coe, B. P., Girirajan, S., Rosenfeld, J. A., Vu, T. H., Baker, C., Williams, C., Stalker, H., Hamid, R., Hannig, V., Abdel-Hamid, H., Bader, P., and 14 others. &lt;strong&gt;A copy number variation morbidity map of developmental delay.&lt;/strong&gt; Nature Genet. 43: 838-846, 2011. Note: Erratum: Nature Genet. 46: 1040 only, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21841781/&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;21841781&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=21841781[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.909&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="21841781">Cooper et al. (2011)</a> identified the 17q21.31 deletion in 23 individuals and atypical deletions in 3 individuals. Detailed clinical information on 2 individuals with the atypical deletion showed typical phenotypic features of the syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21841781" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Zollino, M., Orteschi, D., Murdolo, M., Lattante, S., Battaglia, D., Stefanini, C., Mercuri, E., Chiurazzi, P., Neri, G., Marangi, G. &lt;strong&gt;Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.&lt;/strong&gt; Nature Genet. 44: 636-638, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22544367/&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;22544367&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.2257&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="22544367">Zollino et al. (2012)</a> reported 2 unrelated girls with Koolen-De Vries syndrome due to de novo heterozygous truncating mutations in the KANSL1 gene (<a href="/entry/612452#0001">612452.0001</a> and <a href="/entry/612452#0002">612452.0002</a>). Both had failure to thrive in infancy, hypotonia, and delayed psychomotor development. Characteristic facial features included broad forehead, upslanting palpebral fissures, epicanthal folds, 'pear'-shaped nose with bulbous nasal tip, long philtrum, large ears, broad chin, abnormal hair texture, and sparse eyebrows. Both also had joint hyperextensibility. Neither had seizures, heart defects, or urinary anomalies. Both had a happy disposition. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22544367" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Koolen, D. A., Kramer, J. M., Neveling, K., Nillesen, W. M., Moore-Barton, H. L., Elmslie, F. V., Toutain, A., Amiel, J., Malan, V., Tsai, A. C.-H., Cheung, S. W., Gilissen, C., and 13 others. &lt;strong&gt;Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.&lt;/strong&gt; Nature Genet. 44: 639-641, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22544363/&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;22544363&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.2262&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="22544363">Koolen et al. (2012)</a> reported 2 unrelated patients with Koolen-De Vries syndrome due to de novo heterozygous truncating mutations in the KANSL1 gene (<a href="/entry/612452#0003">612452.0003</a> and <a href="/entry/612452#0004">612452.0004</a>). Both patients had delayed psychomotor development, intellectual disability, hypotonia, friendly personality, and characteristic facial features, including broad forehead, long face, upslanting palpebral fissures, epicanthal folds, and tubular nose with bulbous nasal tip. Both also had joint laxity, slender lower limbs, pes planus, sacral dimple, and abnormal hair color or texture. One patient had additional features, including cleft lip/palate, ventricular septal defect, cryptorchidism, hypermetropia, strabismus, and scoliosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22544363" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Koolen, D. A., Pfundt, R., Linda, K., Beunders, G., Veenstra-Knol, H. E., Conta, J. H., Fortuna, A. M., Gillessen-Kaesbach, G., Dugan, S., Halbach, S., Abdul-Rahman, O. A., Winesett, H. M., and 38 others. &lt;strong&gt;The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.&lt;/strong&gt; Europ. J. Hum. Genet. 24: 652-659, 2016.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26306646/&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;26306646&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=26306646[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ejhg.2015.178&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="26306646">Koolen et al. (2016)</a> compared the clinical features of 45 patients with KDVS, including 33 with a 17q21.31 deletion and 12 with a KANSL1 mutation. Three of the patients had previously been reported. There were no differences of clinical importance between the 2 groups, indicating that haploinsufficiency for KANKL1 is sufficient to cause the core phenotype. However, 44% of those in the deletion group had large ears, compared to none in the mutation group. The patients had strikingly similar dysmorphic features, including long face, upslanting and narrow palpebral fissures, ptosis, epicanthal folds, tubular- or pear-shaped nose with bulbous nasal tip, and everted lower lip. Many had poor overall growth or short stature. Most had hypotonia, particularly in the neonatal period, and all showed delayed development with intellectual disability, ranging from borderline/mild to severe, and speech delay. Expressive language was more severely affected than receptive language, and 4 patients (11%) were nonverbal. About half of patients had seizures that were usually well-controlled, and although the majority (89%) had an amiable affect, about half had neuropsychologic disorders, including hyperactivity, anxiety, autistic features, impulsivity, and depression. Structural brain abnormalities occurred in 53% of patients and mainly consisted of corpus callosum hypoplasia/aplasia, enlarged ventricles, hydrocephalus, and/or heterotopias. Musculoskeletal anomalies were present in 77% of patients, and included tracheo/laryngomalacia, pectus excavatum or carinatum, scoliosis/kyphosis, hip dislocation/dysplasia, joint hypermobility, and positional deformities of the feet. Other common abnormalities included congenital heart defects (39%), urogenital anomalies (45%), and ectodermal abnormalities (67%). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26306646" 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="#11" class="mim-tip-reference" title="Myers, K. A., Mandelstam, S. A., Ramantani, G., Rushing, E. J., de Vries, B. B., Koolen, D. A., Scheffer, I. E. &lt;strong&gt;The epileptology of Koolen-de Vries syndrome: electro-clinico-radiologic findings in 31 patients.&lt;/strong&gt; Epilepsia 58: 1085-1094, 2017.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/28440867/&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;28440867&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/epi.13746&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="28440867">Myers et al. (2017)</a> reviewed the seizure phenotypes of 31 patients with KDVS who had seizures, noting that seizures occur in about 50% of patients with the disorder. The mean age at seizure onset was 3.5 years (range, 4 months to 24 years). Most patients presented with focal impaired awareness and staring spells in infancy, often associated with autonomic signs, such as pallor, vomiting, and oxygen desaturation. Twenty-one patients had prolonged seizures, including status epilepticus. Nine (41%) of 22 patients had refractory seizures, but seizures could be variably controlled in the long term in other patients. EEG studies were available for 26 patients, most of which showed focal or multiform epileptiform discharges; 2 patients had spike-wave discharges with 3-4 Hz frequency. Variable structural brain abnormalities were found in all patients, and mainly included corpus callosum dysgenesis, abnormal hippocampi, and dilated ventricles. Less common MRI findings included periventricular nodular heterotopia, focal cortical dysplasia, abnormal sulcation, and abnormalities of the brainstem and cerebellum. All individuals had delayed development and intellectual disability, but the degree of cognitive impairment varied, with 6 patients mildly affected, 8 patients moderately affected, and 17 more severely affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28440867" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#10" class="mim-tip-reference" title="Koolen, D. A., Vissers, L. E. L. M., Pfundt, R., de Leeuw, N., Knight, S. J. L., Regan, R., Kooy, R. F., Reyniers, E., Romano, C., Fichera, M., Schinzel, A., Baumer, A., Anderlid, B.-M., Schoumans, J., Knoers, N. V., van Kessel, A. G., Sistermans, E. A., Veltman, J. A., Brunner, H. G., de Vries, B. B. A. &lt;strong&gt;A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.&lt;/strong&gt; Nature Genet. 38: 999-1001, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16906164/&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;16906164&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1853&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="16906164">Koolen et al. (2006)</a> found that the deletions in 17q21.31 in 3 mentally retarded individuals were all located within a genomic region that harbors a common 900-kb inversion polymorphism that was previously described by <a href="#15" class="mim-tip-reference" title="Stefansson, H., Helgason, A., Thorleifsson, G., Steinthorsdottir, V., Masson, G., Barnard, J., Baker, A., Jonasdottir, A., Ingason, A., Gudnadottir, V. G., Desnica, N., Hicks, A., and 15 others. &lt;strong&gt;A common inversion under selection in Europeans.&lt;/strong&gt; Nature Genet. 37: 129-137, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15654335/&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;15654335&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1508&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="15654335">Stefansson et al. (2005)</a> (see <a href="/entry/157140">157140</a>). For this region, 2 major and highly divergent haplotypes, designated H1 and H2, had been found. The H2 lineage, representing the 900-kb inversion polymorphism, is found at a frequency of 20% in Europeans. For all 3 individuals, 1 of the parents carried the H2 haplotype. Parent-of-origin analysis showed that the deletion occurred on the H2 haplotype in 2 individuals, but was inconclusive in the third. The H2 haplotype differs from the H1 by a directly oriented low-copy repeat (LCR) that immediately flanked the breakpoints in all 3 individuals. This suggested that these deletions resulted from nonallelic homologous recombination, mediated by this H2-specific LCR. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15654335+16906164" 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="#13" class="mim-tip-reference" title="Shaw-Smith, C., Pittman, A. M., Willatt, L., Martin, H., Rickman, L., Gribble, S., Curley, R., Cumming, S., Dunn, C., Kalaitzopoulos, D., Porter, K., Prigmore, E., Krepischi-Santos, A. C. V., Varela, M. C., Koiffmann, C. P., Lees, A. J., Rosenberg, C., Firth, H. V., de Silva, R., Carter, N. P. &lt;strong&gt;Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.&lt;/strong&gt; Nature Genet. 38: 1032-1037, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16906163/&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;16906163&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1858&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="16906163">Shaw-Smith et al. (2006)</a> likewise described 3 individuals with a heterozygous 17q21.3 deletion detected by array CGH. In each case the parent-of-origin of the deleted chromosome 17 carried at least 1 H2 chromosome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16906163" 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>Approximately 5% of the human genome is composed of segmental duplications that are more than 1 kb long and show more than 90% sequence identity, the majority of which have an interspersed, rather than tandem, distribution (<a href="#1" class="mim-tip-reference" title="Bailey, J. A., Gu, Z., Clark, R. A., Reinert, K., Samonte, R. V., Schwartz, S., Adams, M. D., Myers, E. W., Li, P. W., Eichler, E. E. &lt;strong&gt;Recent segmental duplications in the human genome.&lt;/strong&gt; Science 297: 1003-1007, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12169732/&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;12169732&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.1072047&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="12169732">Bailey et al., 2002</a>; <a href="#3" class="mim-tip-reference" title="Cheung, V. G., Nowak, N., Jang, W., Kirsch, I. R., Zhao, S., Chen, X. N., Furey, T. S., Kim, U. J., Kuo, W. L., Olivier, M., Conroy, J., Kasprzyk, A., and 49 others. &lt;strong&gt;Integration of cytogenetic landmarks in the draft sequence of the human genome.&lt;/strong&gt; Nature 409: 953-958, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11237021/&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;11237021&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=11237021[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/35057192&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="11237021">Cheung et al., 2001</a>). These duplication blocks act as substrates for nonallelic homologous recombination, leading to the deletion, duplication, or inversion of the intervening sequence (<a href="#14" class="mim-tip-reference" title="Stankiewicz, P., Lupski, J. R. &lt;strong&gt;Genome architecture, rearrangements and genomic disorders.&lt;/strong&gt; Trends Genet. 18: 74-82, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11818139/&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;11818139&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0168-9525(02)02592-1&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="11818139">Stankiewicz and Lupski, 2002</a>). Based on the duplication architecture of the genome, <a href="#12" class="mim-tip-reference" title="Sharp, A. J., Hansen, S., Selzer, R. R., Cheng, Z., Regan, R., Hurst, J. A., Stewart, H., Price, S. M., Blair, E., Hennekam, R. C., Fitzpatrick, C. A., Segraves, R., Richmond, T. A., Guiver, C., Albertson, D. G., Pinkel, D., Eis, P. S., Schwartz, S., Knight, S. J. L., Eichler, E. E. &lt;strong&gt;Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.&lt;/strong&gt; Nature Genet. 38: 1038-1042, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16906162/&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;16906162&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1862&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="16906162">Sharp et al. (2006)</a> investigated 130 regions that they hypothesized as candidates for previously undescribed genomic disorders. They tested 290 individuals with mental retardation by BAC array CGH and identified 16 pathogenic rearrangements, including de novo microdeletions of 17q21.31 found in 4 individuals. By using oligonucleotide arrays, they refined the breakpoints of this microdeletion, defining a 478-kb critical region containing 6 genes that were deleted in all 4 individuals; they noted that 2 of these, CRHR1 and MAPT, are highly expressed in brain and have been implicated in neurodegenerative and behavioral phenotypes and are therefore excellent candidates for dosage-sensitive genes underlying this microdeletion syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11818139+12169732+16906162+11237021" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using high resolution oligonucleotide arrays to analyze 22 patients with 17q21.31 deletion syndrome, <a href="#9" class="mim-tip-reference" title="Koolen, D. A., Sharp, A. J., Hurst, J. A., Firth, H. V., Knight, S. J. L., Goldenberg, A., Saugier-Veber, P., Pfundt, R., Vissers, L. E. L. M., Destree, A., Grisart, B., Rooms, L., and 36 others. &lt;strong&gt;Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.&lt;/strong&gt; J. Med. Genet. 45: 710-720, 2008. Note: Erratum: J. Med. Genet. 46: 576 only, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18628315/&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;18628315&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=18628315[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2008.058701&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="18628315">Koolen et al. (2008)</a> narrowed the critical region to a 424-kb genomic segment encompassing at least 6 genes, including MAPT. Five deletion carriers had a greater than 500 bp rearrangement at the proximal breakpoint within an L2 LINE motif, suggesting a hotspot for nonallelic homologous recombination. In addition, every case examined showed that the parent originating the deletion carried the H2 haplotype, indicating that this inversion is a necessary factor for deletion to occur. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18628315" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Cooper, G. M., Coe, B. P., Girirajan, S., Rosenfeld, J. A., Vu, T. H., Baker, C., Williams, C., Stalker, H., Hamid, R., Hannig, V., Abdel-Hamid, H., Bader, P., and 14 others. &lt;strong&gt;A copy number variation morbidity map of developmental delay.&lt;/strong&gt; Nature Genet. 43: 838-846, 2011. Note: Erratum: Nature Genet. 46: 1040 only, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21841781/&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;21841781&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=21841781[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.909&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="21841781">Cooper et al. (2011)</a> compared copy number variants (CNVs) in 15,767 children with intellectual disability and various congenital defects (cases) to CNVs in 8,329 unaffected adult controls. They identified the 17q21.31 deletion in 23 individuals and atypical deletions in 3 individuals. The smallest deletion refined the phenotype-associated critical region (Chr17:41,356,798-41,631,306, NCBI36) to encompass only 5 RefSeq genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21841781" 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>Among 11 patients with 17q21.31 deletion syndrome, <a href="#17" class="mim-tip-reference" title="Tan, T. Y., Aftimos, S., Worgan, L., Susman, R., Wilson, M., Ghedia, S., Kirk, E. P., Love, D., Ronan, A., Darmanian, A., Slavotinek, A., Hogue, J., Moeschler, J. B., Ozmore, J., Widmer, R., Bruno, D., Savarirayan, R., Peters, G. &lt;strong&gt;Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome. (Letter)&lt;/strong&gt; J. Med. Genet. 46: 480-489, 2009. Note: Erratum: J. Med. Genet. 46: 576 only, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19447831/&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;19447831&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2008.065391&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="19447831">Tan et al. (2009)</a> found that the deletions ranged from 0.44 to 0.68 Mb in size, and included the CRHR1 (<a href="/entry/122561">122561</a>), MAPT (<a href="/entry/157140">157140</a>), IMP5 (<a href="/entry/608284">608284</a>),and STH (<a href="/entry/607067">607067</a>) genes, and part of the KIAA1267 gene (KANSL1; <a href="/entry/612452">612452</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19447831" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By exome sequencing of a girl with classic features of chromosome 17q21.31 deletion syndrome who did not have a deletion on FISH or array CGH analysis, <a href="#19" class="mim-tip-reference" title="Zollino, M., Orteschi, D., Murdolo, M., Lattante, S., Battaglia, D., Stefanini, C., Mercuri, E., Chiurazzi, P., Neri, G., Marangi, G. &lt;strong&gt;Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.&lt;/strong&gt; Nature Genet. 44: 636-638, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22544367/&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;22544367&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.2257&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="22544367">Zollino et al. (2012)</a> identified a de novo heterozygous truncating mutation in the KANSL1 gene (<a href="/entry/612452#0001">612452.0001</a>). Direct sequencing of this gene in another unrelated girl with features of the disorder in whom no deletion could be detected identified a second truncating mutation (<a href="/entry/612452#0002">612452.0002</a>). The findings indicated that point mutation in the KANSL1 gene is sufficient for full manifestations of chromosome 17q21.31 deletion syndrome, and indicated that it is a monogenic disorder caused by haploinsufficiency of KANSL1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22544367" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By Sanger sequencing of the KANSL1 gene in 16 individuals with features of 17q21.31 deletion syndrome who did not have copy number variations in the MAPT or KANSL1 genes, <a href="#7" class="mim-tip-reference" title="Koolen, D. A., Kramer, J. M., Neveling, K., Nillesen, W. M., Moore-Barton, H. L., Elmslie, F. V., Toutain, A., Amiel, J., Malan, V., Tsai, A. C.-H., Cheung, S. W., Gilissen, C., and 13 others. &lt;strong&gt;Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.&lt;/strong&gt; Nature Genet. 44: 639-641, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22544363/&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;22544363&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.2262&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="22544363">Koolen et al. (2012)</a> identified different de novo heterozygous truncating mutations in the KANSL1 gene (<a href="/entry/612452#0003">612452.0003</a> and <a href="/entry/612452#0004">612452.0004</a>) in 2 unrelated patients. Whole-transcriptome sequencing of 3 individuals with the classic 17q21.31 deletion showed that expression levels of KANSL1 were reduced by half. Whole-transcriptome sequencing of 1 of the patients with a point mutation showed differential expression of similar genes as those in patients with deletions; these genes are believed to be involved in neuronal/synaptic processes. The findings showed that haploinsufficiency of KANSL1 is sufficient to cause the classic 17q21.31 microdeletion syndrome phenotype, and provided evidence that the histone acetyltransferase complex may have a role in human cognitive function and developmental processes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22544363" 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="Itsara, A., Vissers, L. E. L. M., Steinberg, K. M., Meyer, K. J., Zody, M. C., Koolen, D. A., de Ligt, J., Cuppen, E., Baker, C., Lee, C., Graves, T. A., Wilson, R. K., Jenkins, R. B., Veltman, J. A., Eichler, E. E. &lt;strong&gt;Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing.&lt;/strong&gt; Am. J. Hum. Genet. 90: 599-613, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22482802/&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;22482802&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=22482802[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2012.02.013&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="22482802">Itsara et al. (2012)</a> used a combination of somatic cell hybrids, array comparative genomic hybridization, and the specificity of next-generation sequencing to determine breakpoints that occur within segmental duplications at the 17q21.31 locus in 3 deletion-bearing individuals. For 2 cases, <a href="#5" class="mim-tip-reference" title="Itsara, A., Vissers, L. E. L. M., Steinberg, K. M., Meyer, K. J., Zody, M. C., Koolen, D. A., de Ligt, J., Cuppen, E., Baker, C., Lee, C., Graves, T. A., Wilson, R. K., Jenkins, R. B., Veltman, J. A., Eichler, E. E. &lt;strong&gt;Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing.&lt;/strong&gt; Am. J. Hum. Genet. 90: 599-613, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22482802/&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;22482802&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=22482802[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2012.02.013&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="22482802">Itsara et al. (2012)</a> observed breakpoints consistent with nonallelic homologous recombination involving only H2 chromosomal haplotypes, as expected. Molecular resolution revealed that the breakpoints occurred at different locations within a 145-kb segment of greater than 99% identity and disrupted KANSL1. In the remaining case, they found that unequal crossover occurred interchromosomally between the H1 and H2 haplotypes and that this event was mediated by a homologous sequence that was once again missing from the human reference. Interestingly, the breakpoints mapped preferentially to gaps in the current reference genome assembly, which were resolved in this study. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22482802" 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="Kaminsky, E. B., Kaul, V., Paschall, J., Church, D. M., Bunke, B., Kunig, D., Moreno-De-Luca, D., Moreno-De-Luca, A., Mulle, J. G., Warren, S. T., Richard, G., Compton, J. G., and 22 others. &lt;strong&gt;An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.&lt;/strong&gt; Genet. Med. 13: 777-784, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21844811/&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;21844811&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/GIM.0b013e31822c79f9&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="21844811">Kaminsky et al. (2011)</a> presented the largest copy number variant case-control study to that time, comprising 15,749 International Standards for Cytogenomic Arrays cases and 10,118 published controls, focusing on recurrent deletions and duplications involving 14 copy number variant regions. Compared with controls, 14 deletions and 7 duplications were significantly overrepresented in cases, providing a clinical diagnosis as pathogenic. The 17q21.31 deletion was identified in 22 cases and no controls for a p value of 2.49 x 10(-5) and a frequency of 1 in 716 cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21844811" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Koolen, D. A., Pfundt, R., Linda, K., Beunders, G., Veenstra-Knol, H. E., Conta, J. H., Fortuna, A. M., Gillessen-Kaesbach, G., Dugan, S., Halbach, S., Abdul-Rahman, O. A., Winesett, H. M., and 38 others. &lt;strong&gt;The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.&lt;/strong&gt; Europ. J. Hum. Genet. 24: 652-659, 2016.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26306646/&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;26306646&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=26306646[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ejhg.2015.178&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="26306646">Koolen et al. (2016)</a> reported 45 patients with KDVS confirmed by genetic analysis, including 33 with a 17q21.21 microdeletion encompassing the KANSL1 gene and 12 with a de novo heterozygous mutation in KANSL1 (see, e.g., <a href="/entry/612452#0004">612452.0004</a>-<a href="/entry/612452#0006">612452.0006</a>), all of which were predicted to result in haploinsufficiency. Functional studies of the variants were not performed. <a href="#8" class="mim-tip-reference" title="Koolen, D. A., Pfundt, R., Linda, K., Beunders, G., Veenstra-Knol, H. E., Conta, J. H., Fortuna, A. M., Gillessen-Kaesbach, G., Dugan, S., Halbach, S., Abdul-Rahman, O. A., Winesett, H. M., and 38 others. &lt;strong&gt;The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.&lt;/strong&gt; Europ. J. Hum. Genet. 24: 652-659, 2016.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/26306646/&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;26306646&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=26306646[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ejhg.2015.178&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="26306646">Koolen et al. (2016)</a> noted that genetic testing of the 17q21.31 locus can be challenging because of the structural complexity of the genomic region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26306646" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#9" class="mim-tip-reference" title="Koolen, D. A., Sharp, A. J., Hurst, J. A., Firth, H. V., Knight, S. J. L., Goldenberg, A., Saugier-Veber, P., Pfundt, R., Vissers, L. E. L. M., Destree, A., Grisart, B., Rooms, L., and 36 others. &lt;strong&gt;Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.&lt;/strong&gt; J. Med. Genet. 45: 710-720, 2008. Note: Erratum: J. Med. Genet. 46: 576 only, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18628315/&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;18628315&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=18628315[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2008.058701&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="18628315">Koolen et al. (2008)</a> estimated the prevalence of the syndrome to be 1 in 16,000 and suggested that it is currently underdiagnosed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18628315" 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 analysis of <a href="#18" class="mim-tip-reference" title="Zody, M. C., Jiang, Z., Fung, H.-C., Antonacci, F., Hillier, L. W., Cardone, M. F., Graves, T. A., Kidd, J. M., Cheng, Z., Abouelleil, A., Chen, L., Wallis, J., Glasscock, J., Wilson, R. J., Reily, A. D., Duckworth, J., Ventura, M., Hardy, J., Warren, W. C., Eichler, E. E. &lt;strong&gt;Evolutionary toggling of the MAPT 17q21.31 inversion region.&lt;/strong&gt; Nature Genet. 40: 1076-1083, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19165922/&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;19165922&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19165922[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.193&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="19165922">Zody et al. (2008)</a> of the evolutionary history of the European-enriched 17q21.31 MAPT inversion polymorphism favored the H2 configuration and sequence haplotype as the likely great ape and human ancestral state, with inversion recurrences during primate evolution. The authors further showed that the H2 architecture has evolved more extensive sequence homology, perhaps explaining its tendency to undergo microdeletion associated with mental retardation in European populations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19165922" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Steinberg, K. M., Antonacci, F., Sudmant, P. H., Kidd, J. M., Campbell, C. D., Vives, L., Malig, M., Scheinfeldt, L., Beggs, W., Ibrahim, M., Lema, G., Nyambo, T. B., Omar, S. A., Bodo, J.-M., Froment, A., Donnelly, M. P., Kidd, K. K., Tishkoff, S. A., Eichler, E. E. &lt;strong&gt;Structural diversity and African origin of the 17q21.31 inversion polymorphism.&lt;/strong&gt; Nature Genet. 44: 872-880, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22751100/&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;22751100&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=22751100[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.2335&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="22751100">Steinberg et al. (2012)</a> investigated the genetic diversity of the 17q21.31 inversion polymorphism in 2,700 individuals, with an emphasis on African populations. <a href="#16" class="mim-tip-reference" title="Steinberg, K. M., Antonacci, F., Sudmant, P. H., Kidd, J. M., Campbell, C. D., Vives, L., Malig, M., Scheinfeldt, L., Beggs, W., Ibrahim, M., Lema, G., Nyambo, T. B., Omar, S. A., Bodo, J.-M., Froment, A., Donnelly, M. P., Kidd, K. K., Tishkoff, S. A., Eichler, E. E. &lt;strong&gt;Structural diversity and African origin of the 17q21.31 inversion polymorphism.&lt;/strong&gt; Nature Genet. 44: 872-880, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22751100/&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;22751100&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=22751100[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.2335&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="22751100">Steinberg et al. (2012)</a> characterized 8 structural haplotypes due to complex rearrangements that varied in size from 1.08 to 1.49 Mb and provided evidence for a 30-kb H1-H2 double recombination event. They showed that recurrent partial duplications of the KANSL1 gene (<a href="/entry/612452">612452</a>) have occurred on both the H1 and H2 haplotypes and have risen to high frequency in European populations. The authors identified a likely ancestral H2 haplotype (H2-prime) lacking these duplications that is enriched among African hunter-gatherer groups yet essentially absent from West African populations. Whereas H1 and H2 segmental duplications arose independently and before human migration out of Africa, they have reached high frequencies recently in Europeans, either because of extraordinary genetic drift or selective sweeps. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22751100" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Boettger, L. M., Handsaker, R. E., Zody, M. C., McCarroll, S. A. &lt;strong&gt;Structural haplotypes and recent evolution of the human 17q21.31 region.&lt;/strong&gt; Nature Genet. 44: 881-885, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22751096/&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;22751096&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=22751096[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.2334&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="22751096">Boettger et al. (2012)</a> developed a population genetics approach to analyze complex genome structures and identified 9 segregating structural forms of 17q21.31. Both the H1 and H2 forms of the 17q21.31 inversion polymorphism contain independently derived, partial duplications of the KANSL1 gene; these duplications, which produce novel KANSL1 transcripts, have both recently risen to high allele frequencies (26% and 19%) in Europeans. An older H2 form lacking such a duplication is present at low frequency in European and central African hunter-gatherer populations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22751096" 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="Bailey2002" class="mim-anchor"></a>
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Bailey, J. A., Gu, Z., Clark, R. A., Reinert, K., Samonte, R. V., Schwartz, S., Adams, M. D., Myers, E. W., Li, P. W., Eichler, E. E.
<strong>Recent segmental duplications in the human genome.</strong>
Science 297: 1003-1007, 2002.
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[<a href="https://doi.org/10.1126/science.1072047" target="_blank">Full Text</a>]
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<a id="Boettger2012" class="mim-anchor"></a>
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Boettger, L. M., Handsaker, R. E., Zody, M. C., McCarroll, S. A.
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Nature Genet. 44: 881-885, 2012.
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[<a href="https://doi.org/10.1038/ng.2334" target="_blank">Full Text</a>]
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Cheung, V. G., Nowak, N., Jang, W., Kirsch, I. R., Zhao, S., Chen, X. N., Furey, T. S., Kim, U. J., Kuo, W. L., Olivier, M., Conroy, J., Kasprzyk, A., and 49 others.
<strong>Integration of cytogenetic landmarks in the draft sequence of the human genome.</strong>
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[<a href="https://doi.org/10.1038/35057192" target="_blank">Full Text</a>]
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Cooper, G. M., Coe, B. P., Girirajan, S., Rosenfeld, J. A., Vu, T. H., Baker, C., Williams, C., Stalker, H., Hamid, R., Hannig, V., Abdel-Hamid, H., Bader, P., and 14 others.
<strong>A copy number variation morbidity map of developmental delay.</strong>
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[<a href="https://doi.org/10.1038/ng.909" target="_blank">Full Text</a>]
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<a id="Itsara2012" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Itsara, A., Vissers, L. E. L. M., Steinberg, K. M., Meyer, K. J., Zody, M. C., Koolen, D. A., de Ligt, J., Cuppen, E., Baker, C., Lee, C., Graves, T. A., Wilson, R. K., Jenkins, R. B., Veltman, J. A., Eichler, E. E.
<strong>Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing.</strong>
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[<a href="https://doi.org/10.1016/j.ajhg.2012.02.013" target="_blank">Full Text</a>]
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<a id="Kaminsky2011" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kaminsky, E. B., Kaul, V., Paschall, J., Church, D. M., Bunke, B., Kunig, D., Moreno-De-Luca, D., Moreno-De-Luca, A., Mulle, J. G., Warren, S. T., Richard, G., Compton, J. G., and 22 others.
<strong>An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.</strong>
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[<a href="https://doi.org/10.1097/GIM.0b013e31822c79f9" target="_blank">Full Text</a>]
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<a id="Koolen2012" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Koolen, D. A., Kramer, J. M., Neveling, K., Nillesen, W. M., Moore-Barton, H. L., Elmslie, F. V., Toutain, A., Amiel, J., Malan, V., Tsai, A. C.-H., Cheung, S. W., Gilissen, C., and 13 others.
<strong>Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.</strong>
Nature Genet. 44: 639-641, 2012.
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[<a href="https://doi.org/10.1038/ng.2262" target="_blank">Full Text</a>]
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<a id="Koolen2016" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Koolen, D. A., Pfundt, R., Linda, K., Beunders, G., Veenstra-Knol, H. E., Conta, J. H., Fortuna, A. M., Gillessen-Kaesbach, G., Dugan, S., Halbach, S., Abdul-Rahman, O. A., Winesett, H. M., and 38 others.
<strong>The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.</strong>
Europ. J. Hum. Genet. 24: 652-659, 2016.
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[<a href="https://doi.org/10.1038/ejhg.2015.178" target="_blank">Full Text</a>]
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<a id="Koolen2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Koolen, D. A., Sharp, A. J., Hurst, J. A., Firth, H. V., Knight, S. J. L., Goldenberg, A., Saugier-Veber, P., Pfundt, R., Vissers, L. E. L. M., Destree, A., Grisart, B., Rooms, L., and 36 others.
<strong>Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.</strong>
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[<a href="https://doi.org/10.1136/jmg.2008.058701" target="_blank">Full Text</a>]
</p>
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<a id="Koolen2006" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Koolen, D. A., Vissers, L. E. L. M., Pfundt, R., de Leeuw, N., Knight, S. J. L., Regan, R., Kooy, R. F., Reyniers, E., Romano, C., Fichera, M., Schinzel, A., Baumer, A., Anderlid, B.-M., Schoumans, J., Knoers, N. V., van Kessel, A. G., Sistermans, E. A., Veltman, J. A., Brunner, H. G., de Vries, B. B. A.
<strong>A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16906164/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16906164</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16906164" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng1853" target="_blank">Full Text</a>]
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<a id="Myers2017" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Myers, K. A., Mandelstam, S. A., Ramantani, G., Rushing, E. J., de Vries, B. B., Koolen, D. A., Scheffer, I. E.
<strong>The epileptology of Koolen-de Vries syndrome: electro-clinico-radiologic findings in 31 patients.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28440867/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28440867</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28440867" 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.13746" target="_blank">Full Text</a>]
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<a id="Sharp2006" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sharp, A. J., Hansen, S., Selzer, R. R., Cheng, Z., Regan, R., Hurst, J. A., Stewart, H., Price, S. M., Blair, E., Hennekam, R. C., Fitzpatrick, C. A., Segraves, R., Richmond, T. A., Guiver, C., Albertson, D. G., Pinkel, D., Eis, P. S., Schwartz, S., Knight, S. J. L., Eichler, E. E.
<strong>Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.</strong>
Nature Genet. 38: 1038-1042, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16906162/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16906162</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16906162" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng1862" target="_blank">Full Text</a>]
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<a id="Shaw-Smith2006" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Shaw-Smith, C., Pittman, A. M., Willatt, L., Martin, H., Rickman, L., Gribble, S., Curley, R., Cumming, S., Dunn, C., Kalaitzopoulos, D., Porter, K., Prigmore, E., Krepischi-Santos, A. C. V., Varela, M. C., Koiffmann, C. P., Lees, A. J., Rosenberg, C., Firth, H. V., de Silva, R., Carter, N. P.
<strong>Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.</strong>
Nature Genet. 38: 1032-1037, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16906163/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16906163</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16906163" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng1858" target="_blank">Full Text</a>]
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Stankiewicz, P., Lupski, J. R.
<strong>Genome architecture, rearrangements and genomic disorders.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11818139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11818139</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11818139" 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/s0168-9525(02)02592-1" target="_blank">Full Text</a>]
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<div class="">
<p class="mim-text-font">
Stefansson, H., Helgason, A., Thorleifsson, G., Steinthorsdottir, V., Masson, G., Barnard, J., Baker, A., Jonasdottir, A., Ingason, A., Gudnadottir, V. G., Desnica, N., Hicks, A., and 15 others.
<strong>A common inversion under selection in Europeans.</strong>
Nature Genet. 37: 129-137, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15654335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15654335</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15654335" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng1508" target="_blank">Full Text</a>]
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<a id="Steinberg2012" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Steinberg, K. M., Antonacci, F., Sudmant, P. H., Kidd, J. M., Campbell, C. D., Vives, L., Malig, M., Scheinfeldt, L., Beggs, W., Ibrahim, M., Lema, G., Nyambo, T. B., Omar, S. A., Bodo, J.-M., Froment, A., Donnelly, M. P., Kidd, K. K., Tishkoff, S. A., Eichler, E. E.
<strong>Structural diversity and African origin of the 17q21.31 inversion polymorphism.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22751100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22751100</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22751100[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22751100" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng.2335" target="_blank">Full Text</a>]
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<div class="">
<p class="mim-text-font">
Tan, T. Y., Aftimos, S., Worgan, L., Susman, R., Wilson, M., Ghedia, S., Kirk, E. P., Love, D., Ronan, A., Darmanian, A., Slavotinek, A., Hogue, J., Moeschler, J. B., Ozmore, J., Widmer, R., Bruno, D., Savarirayan, R., Peters, G.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19447831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19447831</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19447831" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.2008.065391" target="_blank">Full Text</a>]
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<a id="Zody2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Zody, M. C., Jiang, Z., Fung, H.-C., Antonacci, F., Hillier, L. W., Cardone, M. F., Graves, T. A., Kidd, J. M., Cheng, Z., Abouelleil, A., Chen, L., Wallis, J., Glasscock, J., Wilson, R. J., Reily, A. D., Duckworth, J., Ventura, M., Hardy, J., Warren, W. C., Eichler, E. E.
<strong>Evolutionary toggling of the MAPT 17q21.31 inversion region.</strong>
Nature Genet. 40: 1076-1083, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19165922/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19165922</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19165922[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19165922" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng.193" target="_blank">Full Text</a>]
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<a id="Zollino2012" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Zollino, M., Orteschi, D., Murdolo, M., Lattante, S., Battaglia, D., Stefanini, C., Mercuri, E., Chiurazzi, P., Neri, G., Marangi, G.
<strong>Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.</strong>
Nature Genet. 44: 636-638, 2012.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22544367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22544367</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22544367" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng.2257" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 01/02/2018
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Ada Hamosh - updated : 2/26/2013<br>Ada Hamosh - updated : 10/4/2012<br>Ada Hamosh - updated : 7/24/2012<br>Cassandra L. Kniffin - updated : 6/7/2012<br>Ada Hamosh - updated : 10/7/2011<br>Cassandra L. Kniffin - updated : 8/31/2009<br>Cassandra L. Kniffin - updated : 12/16/2008<br>Ada Hamosh - updated : 10/22/2008
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Creation Date:
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Victor A. McKusick : 9/26/2006
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carol : 10/02/2024
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carol : 01/30/2024<br>carol : 06/01/2022<br>carol : 01/03/2018<br>carol : 01/02/2018<br>ckniffin : 01/02/2018<br>carol : 05/09/2017<br>alopez : 10/05/2016<br>carol : 09/24/2014<br>carol : 12/4/2013<br>alopez : 3/4/2013<br>terry : 2/26/2013<br>carol : 10/5/2012<br>joanna : 10/4/2012<br>alopez : 10/4/2012<br>carol : 9/7/2012<br>alopez : 8/2/2012<br>terry : 7/24/2012<br>carol : 6/8/2012<br>ckniffin : 6/7/2012<br>alopez : 10/19/2011<br>terry : 10/7/2011<br>terry : 10/7/2011<br>terry : 9/29/2011<br>wwang : 9/7/2010<br>wwang : 9/7/2010<br>wwang : 9/7/2010<br>wwang : 8/30/2010<br>wwang : 8/30/2010<br>ckniffin : 8/20/2010<br>carol : 4/28/2010<br>carol : 1/29/2010<br>wwang : 9/11/2009<br>ckniffin : 8/31/2009<br>wwang : 2/5/2009<br>ckniffin : 12/16/2008<br>alopez : 10/30/2008<br>carol : 10/24/2008<br>terry : 10/22/2008<br>carol : 9/26/2006
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<strong>#</strong> 610443
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KOOLEN-DE VRIES SYNDROME; KDVS
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<em>Alternative titles; symbols</em>
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CHROMOSOME 17q21.31 DELETION SYNDROME<br />
MICRODELETION 17q21.31 SYNDROME
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<strong>SNOMEDCT:</strong> 717338006; &nbsp;
<strong>ORPHA:</strong> 363958, 363965, 96169; &nbsp;
<strong>DO:</strong> 0050880; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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17q21.31
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Koolen-De Vries syndrome
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610443
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Autosomal dominant
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3
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KANSL1
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612452
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because Koolen-de Vries syndrome (KDVS) can be caused by heterozygous mutation in the KANSL1 gene (612452) on chromosome 17q21.31 or by contiguous gene deletion on chromosome 17q21.31.</p><p>See also chromosome 17q21.31 duplication syndrome (613533).</p>
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<strong>Description</strong>
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<p>Koolen-de Vries syndrome (KDVS) is characterized by moderately to severely impaired intellectual development, hypotonia, friendly demeanor, and highly distinctive facial features, including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. More variable features include cardiac or genitourinary anomalies and seizures (summary by Koolen et al., 2012). </p>
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<strong>Clinical Features</strong>
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<p>Using array-based comparative genomic hybridization (array CGH) in a study of 1,200 mentally retarded individuals, Koolen et al. (2006) identified 3 individuals with interstitial, overlapping 17q21.31 microdeletions and a clearly recognizable clinical phenotype of mental retardation, hypotonia, and characteristic face. All 3 individuals showed severe hypotonia from birth onwards, leading to severely delayed motor development. None of the individuals could stand and/or walk before the age of 3 years. Facial features included long hypotonic face with ptosis, blepharophimosis, large and low-set ears, tubular pear-shaped nose with bulbous nasal tip, long columella with hypoplastic alae nasi, and a broad chin. In addition, they all had long fingers, nasal speech, and an amiable and friendly disposition. The deletions encompassed the MAPT (157140) and CRHR1 (122561) genes and were associated with a common inversion polymorphism. All 3 deletions were confirmed by fluorescence in situ hybridization and shown to have arisen de novo. </p><p>Koolen et al. (2008) described the clinical and molecular features of 22 patients with 17q21.31 deletion syndrome, including 11 previously reported patients and 11 newly ascertained patients. Common features included developmental delay with mild to moderate mental retardation, characteristic facies with long face, high forehead, large, prominent ears, upward-slanting palpebral fissures, epicanthal folds, bulbous nasal tip, pear-shaped nose, and long, slender features. Other features included cardiac septal defects, seizures, and cryptorchidism. Most patients had a friendly demeanor. </p><p>Tan et al. (2009) reported 11 patients with the 17q21.31 deletion syndrome. The facial appearance was characterized by a long face with tall or broad forehead, upslanting palpebral fissures, anteverted ears with thickened or overfolded helices, tubular or pear-shaped nose with bulbous tip, and frequently open mouth. The facial features became more distinctive in early childhood compared to infancy. All patients had hypotonia, global delay, and expressive language delay, and most had a friendly disposition. Congenital cardiac defects included pulmonary stenosis in 3 (27.3%), septal defects in 2 (18.2%), and bicuspid aortic valve in 2 (18.2%), and 1 patient had a dilated aortic root. Other features included urologic anomalies, such as cryptorchidism, hypospadias, vesicoureteric reflux, duplex kidney, renal scarring, and hydronephrosis, and CNS anomalies, such as seizures, corpus callosum defects, and ventriculomegaly. Joint hypermobility and/or hip dislocation/dysplasia were commonly seen, as were ectodermal anomalies of the hair, skin, and teeth. Previously unreported features included persistent fetal fingertip pads, recurrent elbow dislocation, conductive hearing loss, dental abnormalities, and hypertension due to renal scarring. </p><p>In a study of copy number variants (CNVs) in 15,767 children with intellectual disability and various congenital defects (cases) compared to CNVs in 8,329 unaffected adult controls, Cooper et al. (2011) identified the 17q21.31 deletion in 23 individuals and atypical deletions in 3 individuals. Detailed clinical information on 2 individuals with the atypical deletion showed typical phenotypic features of the syndrome. </p><p>Zollino et al. (2012) reported 2 unrelated girls with Koolen-De Vries syndrome due to de novo heterozygous truncating mutations in the KANSL1 gene (612452.0001 and 612452.0002). Both had failure to thrive in infancy, hypotonia, and delayed psychomotor development. Characteristic facial features included broad forehead, upslanting palpebral fissures, epicanthal folds, 'pear'-shaped nose with bulbous nasal tip, long philtrum, large ears, broad chin, abnormal hair texture, and sparse eyebrows. Both also had joint hyperextensibility. Neither had seizures, heart defects, or urinary anomalies. Both had a happy disposition. </p><p>Koolen et al. (2012) reported 2 unrelated patients with Koolen-De Vries syndrome due to de novo heterozygous truncating mutations in the KANSL1 gene (612452.0003 and 612452.0004). Both patients had delayed psychomotor development, intellectual disability, hypotonia, friendly personality, and characteristic facial features, including broad forehead, long face, upslanting palpebral fissures, epicanthal folds, and tubular nose with bulbous nasal tip. Both also had joint laxity, slender lower limbs, pes planus, sacral dimple, and abnormal hair color or texture. One patient had additional features, including cleft lip/palate, ventricular septal defect, cryptorchidism, hypermetropia, strabismus, and scoliosis. </p><p>Koolen et al. (2016) compared the clinical features of 45 patients with KDVS, including 33 with a 17q21.31 deletion and 12 with a KANSL1 mutation. Three of the patients had previously been reported. There were no differences of clinical importance between the 2 groups, indicating that haploinsufficiency for KANKL1 is sufficient to cause the core phenotype. However, 44% of those in the deletion group had large ears, compared to none in the mutation group. The patients had strikingly similar dysmorphic features, including long face, upslanting and narrow palpebral fissures, ptosis, epicanthal folds, tubular- or pear-shaped nose with bulbous nasal tip, and everted lower lip. Many had poor overall growth or short stature. Most had hypotonia, particularly in the neonatal period, and all showed delayed development with intellectual disability, ranging from borderline/mild to severe, and speech delay. Expressive language was more severely affected than receptive language, and 4 patients (11%) were nonverbal. About half of patients had seizures that were usually well-controlled, and although the majority (89%) had an amiable affect, about half had neuropsychologic disorders, including hyperactivity, anxiety, autistic features, impulsivity, and depression. Structural brain abnormalities occurred in 53% of patients and mainly consisted of corpus callosum hypoplasia/aplasia, enlarged ventricles, hydrocephalus, and/or heterotopias. Musculoskeletal anomalies were present in 77% of patients, and included tracheo/laryngomalacia, pectus excavatum or carinatum, scoliosis/kyphosis, hip dislocation/dysplasia, joint hypermobility, and positional deformities of the feet. Other common abnormalities included congenital heart defects (39%), urogenital anomalies (45%), and ectodermal abnormalities (67%). </p><p>Myers et al. (2017) reviewed the seizure phenotypes of 31 patients with KDVS who had seizures, noting that seizures occur in about 50% of patients with the disorder. The mean age at seizure onset was 3.5 years (range, 4 months to 24 years). Most patients presented with focal impaired awareness and staring spells in infancy, often associated with autonomic signs, such as pallor, vomiting, and oxygen desaturation. Twenty-one patients had prolonged seizures, including status epilepticus. Nine (41%) of 22 patients had refractory seizures, but seizures could be variably controlled in the long term in other patients. EEG studies were available for 26 patients, most of which showed focal or multiform epileptiform discharges; 2 patients had spike-wave discharges with 3-4 Hz frequency. Variable structural brain abnormalities were found in all patients, and mainly included corpus callosum dysgenesis, abnormal hippocampi, and dilated ventricles. Less common MRI findings included periventricular nodular heterotopia, focal cortical dysplasia, abnormal sulcation, and abnormalities of the brainstem and cerebellum. All individuals had delayed development and intellectual disability, but the degree of cognitive impairment varied, with 6 patients mildly affected, 8 patients moderately affected, and 17 more severely affected. </p>
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<strong>Mapping</strong>
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<p>Koolen et al. (2006) found that the deletions in 17q21.31 in 3 mentally retarded individuals were all located within a genomic region that harbors a common 900-kb inversion polymorphism that was previously described by Stefansson et al. (2005) (see 157140). For this region, 2 major and highly divergent haplotypes, designated H1 and H2, had been found. The H2 lineage, representing the 900-kb inversion polymorphism, is found at a frequency of 20% in Europeans. For all 3 individuals, 1 of the parents carried the H2 haplotype. Parent-of-origin analysis showed that the deletion occurred on the H2 haplotype in 2 individuals, but was inconclusive in the third. The H2 haplotype differs from the H1 by a directly oriented low-copy repeat (LCR) that immediately flanked the breakpoints in all 3 individuals. This suggested that these deletions resulted from nonallelic homologous recombination, mediated by this H2-specific LCR. </p><p>Shaw-Smith et al. (2006) likewise described 3 individuals with a heterozygous 17q21.3 deletion detected by array CGH. In each case the parent-of-origin of the deleted chromosome 17 carried at least 1 H2 chromosome. </p><p>Approximately 5% of the human genome is composed of segmental duplications that are more than 1 kb long and show more than 90% sequence identity, the majority of which have an interspersed, rather than tandem, distribution (Bailey et al., 2002; Cheung et al., 2001). These duplication blocks act as substrates for nonallelic homologous recombination, leading to the deletion, duplication, or inversion of the intervening sequence (Stankiewicz and Lupski, 2002). Based on the duplication architecture of the genome, Sharp et al. (2006) investigated 130 regions that they hypothesized as candidates for previously undescribed genomic disorders. They tested 290 individuals with mental retardation by BAC array CGH and identified 16 pathogenic rearrangements, including de novo microdeletions of 17q21.31 found in 4 individuals. By using oligonucleotide arrays, they refined the breakpoints of this microdeletion, defining a 478-kb critical region containing 6 genes that were deleted in all 4 individuals; they noted that 2 of these, CRHR1 and MAPT, are highly expressed in brain and have been implicated in neurodegenerative and behavioral phenotypes and are therefore excellent candidates for dosage-sensitive genes underlying this microdeletion syndrome. </p><p>Using high resolution oligonucleotide arrays to analyze 22 patients with 17q21.31 deletion syndrome, Koolen et al. (2008) narrowed the critical region to a 424-kb genomic segment encompassing at least 6 genes, including MAPT. Five deletion carriers had a greater than 500 bp rearrangement at the proximal breakpoint within an L2 LINE motif, suggesting a hotspot for nonallelic homologous recombination. In addition, every case examined showed that the parent originating the deletion carried the H2 haplotype, indicating that this inversion is a necessary factor for deletion to occur. </p><p>Cooper et al. (2011) compared copy number variants (CNVs) in 15,767 children with intellectual disability and various congenital defects (cases) to CNVs in 8,329 unaffected adult controls. They identified the 17q21.31 deletion in 23 individuals and atypical deletions in 3 individuals. The smallest deletion refined the phenotype-associated critical region (Chr17:41,356,798-41,631,306, NCBI36) to encompass only 5 RefSeq genes. </p>
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<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
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<p>Among 11 patients with 17q21.31 deletion syndrome, Tan et al. (2009) found that the deletions ranged from 0.44 to 0.68 Mb in size, and included the CRHR1 (122561), MAPT (157140), IMP5 (608284),and STH (607067) genes, and part of the KIAA1267 gene (KANSL1; 612452). </p><p>By exome sequencing of a girl with classic features of chromosome 17q21.31 deletion syndrome who did not have a deletion on FISH or array CGH analysis, Zollino et al. (2012) identified a de novo heterozygous truncating mutation in the KANSL1 gene (612452.0001). Direct sequencing of this gene in another unrelated girl with features of the disorder in whom no deletion could be detected identified a second truncating mutation (612452.0002). The findings indicated that point mutation in the KANSL1 gene is sufficient for full manifestations of chromosome 17q21.31 deletion syndrome, and indicated that it is a monogenic disorder caused by haploinsufficiency of KANSL1. </p><p>By Sanger sequencing of the KANSL1 gene in 16 individuals with features of 17q21.31 deletion syndrome who did not have copy number variations in the MAPT or KANSL1 genes, Koolen et al. (2012) identified different de novo heterozygous truncating mutations in the KANSL1 gene (612452.0003 and 612452.0004) in 2 unrelated patients. Whole-transcriptome sequencing of 3 individuals with the classic 17q21.31 deletion showed that expression levels of KANSL1 were reduced by half. Whole-transcriptome sequencing of 1 of the patients with a point mutation showed differential expression of similar genes as those in patients with deletions; these genes are believed to be involved in neuronal/synaptic processes. The findings showed that haploinsufficiency of KANSL1 is sufficient to cause the classic 17q21.31 microdeletion syndrome phenotype, and provided evidence that the histone acetyltransferase complex may have a role in human cognitive function and developmental processes. </p><p>Itsara et al. (2012) used a combination of somatic cell hybrids, array comparative genomic hybridization, and the specificity of next-generation sequencing to determine breakpoints that occur within segmental duplications at the 17q21.31 locus in 3 deletion-bearing individuals. For 2 cases, Itsara et al. (2012) observed breakpoints consistent with nonallelic homologous recombination involving only H2 chromosomal haplotypes, as expected. Molecular resolution revealed that the breakpoints occurred at different locations within a 145-kb segment of greater than 99% identity and disrupted KANSL1. In the remaining case, they found that unequal crossover occurred interchromosomally between the H1 and H2 haplotypes and that this event was mediated by a homologous sequence that was once again missing from the human reference. Interestingly, the breakpoints mapped preferentially to gaps in the current reference genome assembly, which were resolved in this study. </p><p>Kaminsky et al. (2011) presented the largest copy number variant case-control study to that time, comprising 15,749 International Standards for Cytogenomic Arrays cases and 10,118 published controls, focusing on recurrent deletions and duplications involving 14 copy number variant regions. Compared with controls, 14 deletions and 7 duplications were significantly overrepresented in cases, providing a clinical diagnosis as pathogenic. The 17q21.31 deletion was identified in 22 cases and no controls for a p value of 2.49 x 10(-5) and a frequency of 1 in 716 cases. </p><p>Koolen et al. (2016) reported 45 patients with KDVS confirmed by genetic analysis, including 33 with a 17q21.21 microdeletion encompassing the KANSL1 gene and 12 with a de novo heterozygous mutation in KANSL1 (see, e.g., 612452.0004-612452.0006), all of which were predicted to result in haploinsufficiency. Functional studies of the variants were not performed. Koolen et al. (2016) noted that genetic testing of the 17q21.31 locus can be challenging because of the structural complexity of the genomic region. </p>
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<strong>Population Genetics</strong>
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<p>Koolen et al. (2008) estimated the prevalence of the syndrome to be 1 in 16,000 and suggested that it is currently underdiagnosed. </p>
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<strong>Evolution</strong>
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<p>The analysis of Zody et al. (2008) of the evolutionary history of the European-enriched 17q21.31 MAPT inversion polymorphism favored the H2 configuration and sequence haplotype as the likely great ape and human ancestral state, with inversion recurrences during primate evolution. The authors further showed that the H2 architecture has evolved more extensive sequence homology, perhaps explaining its tendency to undergo microdeletion associated with mental retardation in European populations. </p><p>Steinberg et al. (2012) investigated the genetic diversity of the 17q21.31 inversion polymorphism in 2,700 individuals, with an emphasis on African populations. Steinberg et al. (2012) characterized 8 structural haplotypes due to complex rearrangements that varied in size from 1.08 to 1.49 Mb and provided evidence for a 30-kb H1-H2 double recombination event. They showed that recurrent partial duplications of the KANSL1 gene (612452) have occurred on both the H1 and H2 haplotypes and have risen to high frequency in European populations. The authors identified a likely ancestral H2 haplotype (H2-prime) lacking these duplications that is enriched among African hunter-gatherer groups yet essentially absent from West African populations. Whereas H1 and H2 segmental duplications arose independently and before human migration out of Africa, they have reached high frequencies recently in Europeans, either because of extraordinary genetic drift or selective sweeps. </p><p>Boettger et al. (2012) developed a population genetics approach to analyze complex genome structures and identified 9 segregating structural forms of 17q21.31. Both the H1 and H2 forms of the 17q21.31 inversion polymorphism contain independently derived, partial duplications of the KANSL1 gene; these duplications, which produce novel KANSL1 transcripts, have both recently risen to high allele frequencies (26% and 19%) in Europeans. An older H2 form lacking such a duplication is present at low frequency in European and central African hunter-gatherer populations. </p>
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<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
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<ol>
<li>
<p class="mim-text-font">
Bailey, J. A., Gu, Z., Clark, R. A., Reinert, K., Samonte, R. V., Schwartz, S., Adams, M. D., Myers, E. W., Li, P. W., Eichler, E. E.
<strong>Recent segmental duplications in the human genome.</strong>
Science 297: 1003-1007, 2002.
[PubMed: 12169732]
[Full Text: https://doi.org/10.1126/science.1072047]
</p>
</li>
<li>
<p class="mim-text-font">
Boettger, L. M., Handsaker, R. E., Zody, M. C., McCarroll, S. A.
<strong>Structural haplotypes and recent evolution of the human 17q21.31 region.</strong>
Nature Genet. 44: 881-885, 2012.
[PubMed: 22751096]
[Full Text: https://doi.org/10.1038/ng.2334]
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</li>
<li>
<p class="mim-text-font">
Cheung, V. G., Nowak, N., Jang, W., Kirsch, I. R., Zhao, S., Chen, X. N., Furey, T. S., Kim, U. J., Kuo, W. L., Olivier, M., Conroy, J., Kasprzyk, A., and 49 others.
<strong>Integration of cytogenetic landmarks in the draft sequence of the human genome.</strong>
Nature 409: 953-958, 2001.
[PubMed: 11237021]
[Full Text: https://doi.org/10.1038/35057192]
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</li>
<li>
<p class="mim-text-font">
Cooper, G. M., Coe, B. P., Girirajan, S., Rosenfeld, J. A., Vu, T. H., Baker, C., Williams, C., Stalker, H., Hamid, R., Hannig, V., Abdel-Hamid, H., Bader, P., and 14 others.
<strong>A copy number variation morbidity map of developmental delay.</strong>
Nature Genet. 43: 838-846, 2011. Note: Erratum: Nature Genet. 46: 1040 only, 2014.
[PubMed: 21841781]
[Full Text: https://doi.org/10.1038/ng.909]
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</li>
<li>
<p class="mim-text-font">
Itsara, A., Vissers, L. E. L. M., Steinberg, K. M., Meyer, K. J., Zody, M. C., Koolen, D. A., de Ligt, J., Cuppen, E., Baker, C., Lee, C., Graves, T. A., Wilson, R. K., Jenkins, R. B., Veltman, J. A., Eichler, E. E.
<strong>Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing.</strong>
Am. J. Hum. Genet. 90: 599-613, 2012.
[PubMed: 22482802]
[Full Text: https://doi.org/10.1016/j.ajhg.2012.02.013]
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<li>
<p class="mim-text-font">
Kaminsky, E. B., Kaul, V., Paschall, J., Church, D. M., Bunke, B., Kunig, D., Moreno-De-Luca, D., Moreno-De-Luca, A., Mulle, J. G., Warren, S. T., Richard, G., Compton, J. G., and 22 others.
<strong>An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.</strong>
Genet. Med. 13: 777-784, 2011.
[PubMed: 21844811]
[Full Text: https://doi.org/10.1097/GIM.0b013e31822c79f9]
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</li>
<li>
<p class="mim-text-font">
Koolen, D. A., Kramer, J. M., Neveling, K., Nillesen, W. M., Moore-Barton, H. L., Elmslie, F. V., Toutain, A., Amiel, J., Malan, V., Tsai, A. C.-H., Cheung, S. W., Gilissen, C., and 13 others.
<strong>Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.</strong>
Nature Genet. 44: 639-641, 2012.
[PubMed: 22544363]
[Full Text: https://doi.org/10.1038/ng.2262]
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</li>
<li>
<p class="mim-text-font">
Koolen, D. A., Pfundt, R., Linda, K., Beunders, G., Veenstra-Knol, H. E., Conta, J. H., Fortuna, A. M., Gillessen-Kaesbach, G., Dugan, S., Halbach, S., Abdul-Rahman, O. A., Winesett, H. M., and 38 others.
<strong>The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.</strong>
Europ. J. Hum. Genet. 24: 652-659, 2016.
[PubMed: 26306646]
[Full Text: https://doi.org/10.1038/ejhg.2015.178]
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<li>
<p class="mim-text-font">
Koolen, D. A., Sharp, A. J., Hurst, J. A., Firth, H. V., Knight, S. J. L., Goldenberg, A., Saugier-Veber, P., Pfundt, R., Vissers, L. E. L. M., Destree, A., Grisart, B., Rooms, L., and 36 others.
<strong>Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.</strong>
J. Med. Genet. 45: 710-720, 2008. Note: Erratum: J. Med. Genet. 46: 576 only, 2009.
[PubMed: 18628315]
[Full Text: https://doi.org/10.1136/jmg.2008.058701]
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Koolen, D. A., Vissers, L. E. L. M., Pfundt, R., de Leeuw, N., Knight, S. J. L., Regan, R., Kooy, R. F., Reyniers, E., Romano, C., Fichera, M., Schinzel, A., Baumer, A., Anderlid, B.-M., Schoumans, J., Knoers, N. V., van Kessel, A. G., Sistermans, E. A., Veltman, J. A., Brunner, H. G., de Vries, B. B. A.
<strong>A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.</strong>
Nature Genet. 38: 999-1001, 2006.
[PubMed: 16906164]
[Full Text: https://doi.org/10.1038/ng1853]
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Myers, K. A., Mandelstam, S. A., Ramantani, G., Rushing, E. J., de Vries, B. B., Koolen, D. A., Scheffer, I. E.
<strong>The epileptology of Koolen-de Vries syndrome: electro-clinico-radiologic findings in 31 patients.</strong>
Epilepsia 58: 1085-1094, 2017.
[PubMed: 28440867]
[Full Text: https://doi.org/10.1111/epi.13746]
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Sharp, A. J., Hansen, S., Selzer, R. R., Cheng, Z., Regan, R., Hurst, J. A., Stewart, H., Price, S. M., Blair, E., Hennekam, R. C., Fitzpatrick, C. A., Segraves, R., Richmond, T. A., Guiver, C., Albertson, D. G., Pinkel, D., Eis, P. S., Schwartz, S., Knight, S. J. L., Eichler, E. E.
<strong>Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.</strong>
Nature Genet. 38: 1038-1042, 2006.
[PubMed: 16906162]
[Full Text: https://doi.org/10.1038/ng1862]
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Shaw-Smith, C., Pittman, A. M., Willatt, L., Martin, H., Rickman, L., Gribble, S., Curley, R., Cumming, S., Dunn, C., Kalaitzopoulos, D., Porter, K., Prigmore, E., Krepischi-Santos, A. C. V., Varela, M. C., Koiffmann, C. P., Lees, A. J., Rosenberg, C., Firth, H. V., de Silva, R., Carter, N. P.
<strong>Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.</strong>
Nature Genet. 38: 1032-1037, 2006.
[PubMed: 16906163]
[Full Text: https://doi.org/10.1038/ng1858]
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Stankiewicz, P., Lupski, J. R.
<strong>Genome architecture, rearrangements and genomic disorders.</strong>
Trends Genet. 18: 74-82, 2002.
[PubMed: 11818139]
[Full Text: https://doi.org/10.1016/s0168-9525(02)02592-1]
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Stefansson, H., Helgason, A., Thorleifsson, G., Steinthorsdottir, V., Masson, G., Barnard, J., Baker, A., Jonasdottir, A., Ingason, A., Gudnadottir, V. G., Desnica, N., Hicks, A., and 15 others.
<strong>A common inversion under selection in Europeans.</strong>
Nature Genet. 37: 129-137, 2005.
[PubMed: 15654335]
[Full Text: https://doi.org/10.1038/ng1508]
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Steinberg, K. M., Antonacci, F., Sudmant, P. H., Kidd, J. M., Campbell, C. D., Vives, L., Malig, M., Scheinfeldt, L., Beggs, W., Ibrahim, M., Lema, G., Nyambo, T. B., Omar, S. A., Bodo, J.-M., Froment, A., Donnelly, M. P., Kidd, K. K., Tishkoff, S. A., Eichler, E. E.
<strong>Structural diversity and African origin of the 17q21.31 inversion polymorphism.</strong>
Nature Genet. 44: 872-880, 2012.
[PubMed: 22751100]
[Full Text: https://doi.org/10.1038/ng.2335]
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Tan, T. Y., Aftimos, S., Worgan, L., Susman, R., Wilson, M., Ghedia, S., Kirk, E. P., Love, D., Ronan, A., Darmanian, A., Slavotinek, A., Hogue, J., Moeschler, J. B., Ozmore, J., Widmer, R., Bruno, D., Savarirayan, R., Peters, G.
<strong>Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome. (Letter)</strong>
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[PubMed: 19447831]
[Full Text: https://doi.org/10.1136/jmg.2008.065391]
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Zody, M. C., Jiang, Z., Fung, H.-C., Antonacci, F., Hillier, L. W., Cardone, M. F., Graves, T. A., Kidd, J. M., Cheng, Z., Abouelleil, A., Chen, L., Wallis, J., Glasscock, J., Wilson, R. J., Reily, A. D., Duckworth, J., Ventura, M., Hardy, J., Warren, W. C., Eichler, E. E.
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[PubMed: 19165922]
[Full Text: https://doi.org/10.1038/ng.193]
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Zollino, M., Orteschi, D., Murdolo, M., Lattante, S., Battaglia, D., Stefanini, C., Mercuri, E., Chiurazzi, P., Neri, G., Marangi, G.
<strong>Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.</strong>
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[PubMed: 22544367]
[Full Text: https://doi.org/10.1038/ng.2257]
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Cassandra L. Kniffin - updated : 01/02/2018<br>Ada Hamosh - updated : 2/26/2013<br>Ada Hamosh - updated : 10/4/2012<br>Ada Hamosh - updated : 7/24/2012<br>Cassandra L. Kniffin - updated : 6/7/2012<br>Ada Hamosh - updated : 10/7/2011<br>Cassandra L. Kniffin - updated : 8/31/2009<br>Cassandra L. Kniffin - updated : 12/16/2008<br>Ada Hamosh - updated : 10/22/2008
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