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<title>
Entry
- #619934 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68; MRD68
- OMIM
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<span class="h4">#619934</span>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/619934"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS156200"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div style="display: table-cell;">Clinical Resources</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
<div class="panel-body small mim-panel-body">
<div><a href="https://clinicaltrials.gov/search?cond=(INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT) OR (KMT2B)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=619934[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>DO:</strong> 0061041<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>
619934
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<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68; MRD68
</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>
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<div>
<h4>
<span class="mim-font">
MENTAL RETARDATION, AUTOSOMAL DOMINANT 68
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
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<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/19/595?start=-3&limit=10&highlight=595">
19q13.12
</a>
</span>
</td>
<td>
<span class="mim-font">
Intellectual developmental disorder, autosomal dominant 68
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619934"> 619934 </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">
KMT2B
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606834"> 606834 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/619934" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<a href="/phenotypicSeries/PS156200" class="btn btn-info" role="button"> Phenotypic Series </a>
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<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/619934" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/619934" 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 <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Other </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- 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 /> -
Poor overall growth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552219&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552219</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001510</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Head </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Small head circumference <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271611007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271611007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551563</a>, <a href="https://bioportal.bioontology.org/search?q=C0424688&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424688</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040195" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040195</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Dysmorphic facial features, nonspecific, variable <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4693169&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4693169</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248200007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248200007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001999" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001999</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> 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">
- Feeding difficulties <span class="mim-feature-ids hidden">[SNOMEDCT: <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=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> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Fifth finger clinodactyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850049&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850049</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004209</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004209</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Foot abnormalities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5399834&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5399834</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001760" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001760</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Global developmental delay <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/224958001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">224958001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F88</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0557874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0557874</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span><br /> -
Impaired intellectual development, mild to severe <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5194978&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5194978</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 /> -
Speech delay <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 />
</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">
- Autism spectrum disorder <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35919005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35919005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F84.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F84.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F84</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F84.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F84.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/299" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">299</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/299.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">299.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1510586&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1510586</a>, <a href="https://bioportal.bioontology.org/search?q=C0524528&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0524528</a> 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> <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 /> -
ADHD <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7461003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7461003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/406506008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">406506008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F90</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F90.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F90.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/314.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">314.01</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/314" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">314</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/314.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">314.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1263846&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1263846</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>, <a href="https://hpo.jax.org/app/browse/term/HP:0007018" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007018</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007018" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007018</a>]</span><br /> -
Behavioral abnormalities <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25786006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25786006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0233514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0233514</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000708" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000708</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Onset in infancy or early childhood<br /> -
Variable severity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861403&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861403</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span><br /> -
De novo mutation (in most patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2985439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2985439</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the lysine-specific methyltransferase 2B gene (KMT2B, <a href="/entry/606834#0009">606834.0009</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
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>
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<span class="mim-font">
<a href="/entry/618050"> 618050 </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/608439"> TLK2 </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/608439"> 608439 </a>
</span>
</td>
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<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>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/616078"> 616078 </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/611060"> SETBP1 </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/611060"> 611060 </a>
</span>
</td>
</tr>
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<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>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
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<span class="mim-font">
<a href="/entry/619320"> 619320 </a>
</span>
</td>
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<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>
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<span class="mim-font">
<a href="/geneMap/19/287?start=-3&limit=10&highlight=287"> 19p13.2 </a>
</span>
</td>
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<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>
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<span class="mim-font">
<a href="/entry/614609"> 614609 </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/603254"> SMARCA4 </a>
</span>
</td>
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<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>
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<span class="mim-font">
<a href="/entry/620450"> 620450 </a>
</span>
</td>
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<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>
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<span class="mim-font">
<a href="/entry/616393"> 616393 </a>
</span>
</td>
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<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>
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<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">
<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/614256"> 614256 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602911"> CACNG2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602911"> 602911 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="text-right small">
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
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</div>
</div>
<div>
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<div>
<a id="text" class="mim-anchor"></a>
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon &lt;span class='glyphicon glyphicon-plus-sign'&gt;&lt;/span&gt at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
<strong>TEXT</strong>
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</h4>
<div id="mimTextFold" class="collapse in ">
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because of evidence that autosomal dominant intellectual developmental disorder-68 (MRD68) is caused by heterozygous mutation in the KMT2B gene (<a href="/entry/606834">606834</a>) on chromosome 19q13.</p><p>Heterozygous mutation in the KMT2B gene can also cause childhood-onset dystonia-28 (DYT28; <a href="/entry/617284">617284</a>).</p>
</span>
<div>
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</div>
</div>
<div>
<a id="description" class="mim-anchor"></a>
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Description</strong>
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</h4>
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<span class="mim-text-font">
<p>Autosomal dominant intellectual developmental disorder-68 (MRD68) is characterized by developmental delay/intellectual disability, microcephaly, poor growth, feeding difficulties, and dysmorphic features. Some patients may have autism spectrum disorder or attention deficit-hyperactivity disorder (ADHD) (<a href="#1" class="mim-tip-reference" title="Cif, L., Demailly, D., Lin, J.-P., Barwick, K. E., Sa, M., Abela, L., Malhotra, S., Chong, W. K., Steel, D., Sanchis-Juan, A., Ngoh, A., Trump, N., and 103 others. &lt;strong&gt;KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.&lt;/strong&gt; Brain 143: 3242-3261, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/33150406/&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;33150406&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=33150406[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/10.1093/brain/awaa304&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="33150406">Cif et al., 2020</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33150406" 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>
</span>
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<br />
</div>
</div>
<div>
<a id="clinicalFeatures" class="mim-anchor"></a>
<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
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<strong>Clinical Features</strong>
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</h4>
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<p><a href="#2" class="mim-tip-reference" title="Faundes, V., Newman, W. G., Bernardini, L., Canham, N., Clayton-Smith, J., Dallapiccola, B., Davies, S. J., Demos, M. K., Goldman, A., Gill, H., Horton, R., Kerr, B., and 11 others. &lt;strong&gt;Histone lysine methylases and demethylases in the landscape of human developmental disorders.&lt;/strong&gt; Am. J. Hum. Genet. 102: 175-187, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/29276005/&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;29276005&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=29276005[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.2017.11.013&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="29276005">Faundes et al. (2018)</a> reported an 11-year-old girl with severe global developmental delay, poor growth, and microcephaly (-3.34 SD). She had delayed walking at age 6.5 years, poor speech, hand stereotypies, nystagmus, urinary incontinence, poor feeding requiring gastrostomy tube, and dysmorphic facial features such as sparse hair, large mouth, high palate, and absent ear lobes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29276005" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Cif, L., Demailly, D., Lin, J.-P., Barwick, K. E., Sa, M., Abela, L., Malhotra, S., Chong, W. K., Steel, D., Sanchis-Juan, A., Ngoh, A., Trump, N., and 103 others. &lt;strong&gt;KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.&lt;/strong&gt; Brain 143: 3242-3261, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/33150406/&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;33150406&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=33150406[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/10.1093/brain/awaa304&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="33150406">Cif et al. (2020)</a> reported 9 patients (patients 45-53), who ranged from 2.2 to 57 years of age, with MRD68. The patients were ascertained through international collaborative efforts after genetic analysis identified heterozygous mutations in the KMT2B gene. Clinical features included developmental delay/intellectual disability, speech delay, microcephaly, growth delay, feeding problems, and dysmorphic features, including epicanthic folds, posteriorly rotated ears, syndactyly/clinodactyly of toes, and fifth finger clinodactyly. Brain MRI, performed in 5 patients, was normal. Several patients had autism or ADHD. None of the patients had dystonia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33150406" 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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<div>
<a id="inheritance" class="mim-anchor"></a>
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<strong>Inheritance</strong>
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</h4>
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<p>The heterozygous mutation in the KMT2B gene that was identified in a patient with MRD68 by <a href="#2" class="mim-tip-reference" title="Faundes, V., Newman, W. G., Bernardini, L., Canham, N., Clayton-Smith, J., Dallapiccola, B., Davies, S. J., Demos, M. K., Goldman, A., Gill, H., Horton, R., Kerr, B., and 11 others. &lt;strong&gt;Histone lysine methylases and demethylases in the landscape of human developmental disorders.&lt;/strong&gt; Am. J. Hum. Genet. 102: 175-187, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/29276005/&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;29276005&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=29276005[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.2017.11.013&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="29276005">Faundes et al. (2018)</a> occurred de novo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29276005" 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>The heterozygous mutations in the KMT2B gene that were identified in 7 of the 9 patients with MRD68 reported by <a href="#1" class="mim-tip-reference" title="Cif, L., Demailly, D., Lin, J.-P., Barwick, K. E., Sa, M., Abela, L., Malhotra, S., Chong, W. K., Steel, D., Sanchis-Juan, A., Ngoh, A., Trump, N., and 103 others. &lt;strong&gt;KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.&lt;/strong&gt; Brain 143: 3242-3261, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/33150406/&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;33150406&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=33150406[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/10.1093/brain/awaa304&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="33150406">Cif et al. (2020)</a> occurred de novo. The transmission pattern in 1 case was consistent with autosomal dominant inheritance, although the mother (P46) had MRD68, and her son (P17) had DYT28, suggesting variable expressivity. The other MRD68 patient (P47) had the same mutation as a sib with DYT28 (P18), although the parents of these individuals were not studied. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33150406" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Molecular Genetics</strong>
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<p>In an 11-year-old girl with MRD68, <a href="#2" class="mim-tip-reference" title="Faundes, V., Newman, W. G., Bernardini, L., Canham, N., Clayton-Smith, J., Dallapiccola, B., Davies, S. J., Demos, M. K., Goldman, A., Gill, H., Horton, R., Kerr, B., and 11 others. &lt;strong&gt;Histone lysine methylases and demethylases in the landscape of human developmental disorders.&lt;/strong&gt; Am. J. Hum. Genet. 102: 175-187, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/29276005/&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;29276005&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=29276005[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.2017.11.013&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="29276005">Faundes et al. (2018)</a> identified a de novo heterozygous 1-bp duplication in the KMT2B gene (c.1808dupC; <a href="/entry/610881#0009">610881.0009</a>). The patient was ascertained from a cohort of 4,293 trios from the Deciphering Developmental Disorders (DDD) study who underwent exome sequencing. The KMT2B gene was chosen for study through a pathway-based approach focusing on candidate genes involved in histone lysine methylation/demethylation. The variant was filtered against several large databases, including ExAC, the 1000 Genomes Project, and the Exome Sequencing Project. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29276005" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Cif, L., Demailly, D., Lin, J.-P., Barwick, K. E., Sa, M., Abela, L., Malhotra, S., Chong, W. K., Steel, D., Sanchis-Juan, A., Ngoh, A., Trump, N., and 103 others. &lt;strong&gt;KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.&lt;/strong&gt; Brain 143: 3242-3261, 2020.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/33150406/&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;33150406&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=33150406[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/10.1093/brain/awaa304&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="33150406">Cif et al. (2020)</a> reported 9 patients (patients 45-53) with MRD68 associated with heterozygous mutations in the KMT2B gene that were identified by gene panel, whole-exome, or Sanger sequencing. There were 6 truncating mutations (see, e.g., <a href="/entry/606834#0012">606834.0012</a>) and 3 missense mutations. The protein-truncating mutations occurred throughout the gene, whereas missense variants clustered in putative functional domains. Functional studies of the variants were not performed, and the authors noted that missense variants should be interpreted with caution. It was postulated that haploinsufficiency or dysfunction of KMT2B affects the downstream expression of key genes regulating neurodevelopment and motor control. There were some instances of discordant phenotypes associated with a particular mutation that resulted in both DYT28 and MRD68 (see, e.g., <a href="/entry/606834#0010">606834.0010</a> and <a href="/entry/606834#0011">606834.0011</a>). The finding of the same mutation in individuals with discordant phenotypes illustrated the phenotypic spectrum that can result from KMT2B mutations. The authors suggested that disease manifestations may be influenced by other genetic, epigenetic, or environmental factors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33150406" 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="1" class="mim-anchor"></a>
<a id="Cif2020" class="mim-anchor"></a>
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Cif, L., Demailly, D., Lin, J.-P., Barwick, K. E., Sa, M., Abela, L., Malhotra, S., Chong, W. K., Steel, D., Sanchis-Juan, A., Ngoh, A., Trump, N., and 103 others.
<strong>KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.</strong>
Brain 143: 3242-3261, 2020.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33150406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33150406</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33150406[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=33150406" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/brain/awaa304" target="_blank">Full Text</a>]
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<a id="Faundes2018" class="mim-anchor"></a>
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Faundes, V., Newman, W. G., Bernardini, L., Canham, N., Clayton-Smith, J., Dallapiccola, B., Davies, S. J., Demos, M. K., Goldman, A., Gill, H., Horton, R., Kerr, B., and 11 others.
<strong>Histone lysine methylases and demethylases in the landscape of human developmental disorders.</strong>
Am. J. Hum. Genet. 102: 175-187, 2018.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29276005/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29276005</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29276005[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=29276005" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ajhg.2017.11.013" target="_blank">Full Text</a>]
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Cassandra L. Kniffin : 06/27/2022
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carol : 07/12/2022
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ckniffin : 06/30/2022<br>carol : 06/29/2022
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<strong>#</strong> 619934
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INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 68; MRD68
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<em>Alternative titles; symbols</em>
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MENTAL RETARDATION, AUTOSOMAL DOMINANT 68
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<strong>DO:</strong> 0061041; &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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19q13.12
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Intellectual developmental disorder, autosomal dominant 68
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619934
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Autosomal dominant
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3
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KMT2B
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606834
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that autosomal dominant intellectual developmental disorder-68 (MRD68) is caused by heterozygous mutation in the KMT2B gene (606834) on chromosome 19q13.</p><p>Heterozygous mutation in the KMT2B gene can also cause childhood-onset dystonia-28 (DYT28; 617284).</p>
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<strong>Description</strong>
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<p>Autosomal dominant intellectual developmental disorder-68 (MRD68) is characterized by developmental delay/intellectual disability, microcephaly, poor growth, feeding difficulties, and dysmorphic features. Some patients may have autism spectrum disorder or attention deficit-hyperactivity disorder (ADHD) (Cif et al., 2020). </p>
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<strong>Clinical Features</strong>
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<p>Faundes et al. (2018) reported an 11-year-old girl with severe global developmental delay, poor growth, and microcephaly (-3.34 SD). She had delayed walking at age 6.5 years, poor speech, hand stereotypies, nystagmus, urinary incontinence, poor feeding requiring gastrostomy tube, and dysmorphic facial features such as sparse hair, large mouth, high palate, and absent ear lobes. </p><p>Cif et al. (2020) reported 9 patients (patients 45-53), who ranged from 2.2 to 57 years of age, with MRD68. The patients were ascertained through international collaborative efforts after genetic analysis identified heterozygous mutations in the KMT2B gene. Clinical features included developmental delay/intellectual disability, speech delay, microcephaly, growth delay, feeding problems, and dysmorphic features, including epicanthic folds, posteriorly rotated ears, syndactyly/clinodactyly of toes, and fifth finger clinodactyly. Brain MRI, performed in 5 patients, was normal. Several patients had autism or ADHD. None of the patients had dystonia. </p>
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<strong>Inheritance</strong>
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<p>The heterozygous mutation in the KMT2B gene that was identified in a patient with MRD68 by Faundes et al. (2018) occurred de novo. </p><p>The heterozygous mutations in the KMT2B gene that were identified in 7 of the 9 patients with MRD68 reported by Cif et al. (2020) occurred de novo. The transmission pattern in 1 case was consistent with autosomal dominant inheritance, although the mother (P46) had MRD68, and her son (P17) had DYT28, suggesting variable expressivity. The other MRD68 patient (P47) had the same mutation as a sib with DYT28 (P18), although the parents of these individuals were not studied. </p>
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<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
<p>In an 11-year-old girl with MRD68, Faundes et al. (2018) identified a de novo heterozygous 1-bp duplication in the KMT2B gene (c.1808dupC; 610881.0009). The patient was ascertained from a cohort of 4,293 trios from the Deciphering Developmental Disorders (DDD) study who underwent exome sequencing. The KMT2B gene was chosen for study through a pathway-based approach focusing on candidate genes involved in histone lysine methylation/demethylation. The variant was filtered against several large databases, including ExAC, the 1000 Genomes Project, and the Exome Sequencing Project. </p><p>Cif et al. (2020) reported 9 patients (patients 45-53) with MRD68 associated with heterozygous mutations in the KMT2B gene that were identified by gene panel, whole-exome, or Sanger sequencing. There were 6 truncating mutations (see, e.g., 606834.0012) and 3 missense mutations. The protein-truncating mutations occurred throughout the gene, whereas missense variants clustered in putative functional domains. Functional studies of the variants were not performed, and the authors noted that missense variants should be interpreted with caution. It was postulated that haploinsufficiency or dysfunction of KMT2B affects the downstream expression of key genes regulating neurodevelopment and motor control. There were some instances of discordant phenotypes associated with a particular mutation that resulted in both DYT28 and MRD68 (see, e.g., 606834.0010 and 606834.0011). The finding of the same mutation in individuals with discordant phenotypes illustrated the phenotypic spectrum that can result from KMT2B mutations. The authors suggested that disease manifestations may be influenced by other genetic, epigenetic, or environmental factors. </p>
</span>
<div>
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<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Cif, L., Demailly, D., Lin, J.-P., Barwick, K. E., Sa, M., Abela, L., Malhotra, S., Chong, W. K., Steel, D., Sanchis-Juan, A., Ngoh, A., Trump, N., and 103 others.
<strong>KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.</strong>
Brain 143: 3242-3261, 2020.
[PubMed: 33150406]
[Full Text: https://doi.org/10.1093/brain/awaa304]
</p>
</li>
<li>
<p class="mim-text-font">
Faundes, V., Newman, W. G., Bernardini, L., Canham, N., Clayton-Smith, J., Dallapiccola, B., Davies, S. J., Demos, M. K., Goldman, A., Gill, H., Horton, R., Kerr, B., and 11 others.
<strong>Histone lysine methylases and demethylases in the landscape of human developmental disorders.</strong>
Am. J. Hum. Genet. 102: 175-187, 2018.
[PubMed: 29276005]
[Full Text: https://doi.org/10.1016/j.ajhg.2017.11.013]
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Cassandra L. Kniffin : 06/27/2022
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carol : 07/12/2022<br>ckniffin : 06/30/2022<br>carol : 06/29/2022
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