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<title>
Entry
- #620237 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78; MRT78
- OMIM
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<span class="h4">#620237</span>
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/620237"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS249500"> <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><a href="https://clinicaltrials.gov/search?cond=(INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE) OR (WDR11)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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&nbsp;
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<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
620237
</span>
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<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78; MRT78
</span>
</h3>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
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</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/10/617?start=-3&limit=10&highlight=617">
10q26.12
</a>
</span>
</td>
<td>
<span class="mim-font">
Intellectual developmental disorder, autosomal recessive 78
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620237"> 620237 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
WDR11
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606417"> 606417 </a>
</span>
</td>
</tr>
</tbody>
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<a href="/clinicalSynopsis/620237" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<a href="/phenotypicSeries/PS249500" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
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<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/620237" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/620237" 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 recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
</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, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3150077&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3150077</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003502" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003502</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003502" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003502</a>]</span> <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><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Head </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Microcephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551563</a>, <a href="https://bioportal.bioontology.org/search?q=C0025958&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025958</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Microcephaly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</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 features (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253978002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253978002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0432072&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0432072</a>]</span><br /> -
Microretrognathia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839546&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839546</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000308" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000308</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000308" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000308</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Ocular anomalies (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232963&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232963</a>]</span><br /> -
Myopia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57190000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57190000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H52.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H52.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/367.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">367.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027092&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027092</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000545</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000545</a>]</span><br /> -
Strabismus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22066006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22066006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038379</a>, <a href="https://bioportal.bioontology.org/search?q=C2020541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2020541</a>, <a href="https://bioportal.bioontology.org/search?q=C1423541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1423541</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span><br /> -
Exotropia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399252000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399252000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399054005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399054005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.10</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/378.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">378.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/378.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">378.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015310&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015310</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000577" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000577</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000577" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000577</a>]</span><br /> -
Optic neuropathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/77157004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">77157004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029132&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029132</a>, <a href="https://bioportal.bioontology.org/search?q=C3887709&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887709</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001138" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001138</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001138" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001138</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- High-arched palate (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27272007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27272007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q38.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q38.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240635</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Spine </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Kyphoscoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405771009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405771009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405772002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405772002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405773007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405773007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0600033&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0600033</a>, <a href="https://bioportal.bioontology.org/search?q=C0575158&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0575158</a>, <a href="https://bioportal.bioontology.org/search?q=C0345392&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0345392</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002751</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0008453" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008453</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002751</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- 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 /> -
Brachydactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43476002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43476002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221357&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221357</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001156" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001156</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001156" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001156</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">
- 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 /> -
Special schooling <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5233280&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5233280</a>]</span><br /> -
Speech impairment (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29164008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29164008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/162294008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">162294008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R47.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R47.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0233715&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0233715</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><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 <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848924</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003593" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003593</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003593" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003593</a>]</span><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 />
</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 WD repeat-containing protein 11 gene (WDR11, <a href="/entry/606417#0004">606417.0004</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 recessive
- <a href="/phenotypicSeries/PS249500">PS249500</a>
- 71 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/1/84?start=-3&limit=10&highlight=84"> 1p36.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619988"> Intellectual developmental disorder, autosomal recessive 77 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619988"> 619988 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616690"> CEP104 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616690"> 616690 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/528?start=-3&limit=10&highlight=528"> 1p34.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611090"> Intellectual developmental disorder, autosomal recessive 12 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611090"> 611090 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606494"> ST3GAL3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606494"> 606494 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/845?start=-3&limit=10&highlight=845"> 1p21.1-p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611107"> Intellectual developmental disorder, autosomal recessive 4 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611107"> 611107 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611107"> MRT4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611107"> 611107 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/868?start=-3&limit=10&highlight=868"> 1p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617432"> Intellectual developmental disorder, autosomal recessive 60 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617432"> 617432 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600774"> TAF13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600774"> 600774 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/894?start=-3&limit=10&highlight=894"> 1p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616269"> Intellectual developmental disorder, autosomal recessive 48 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616269"> 616269 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610299"> SLC6A17 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610299"> 610299 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1425?start=-3&limit=10&highlight=1425"> 1q24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617816"> Glycosylphosphatidylinositol biosynthesis defect 16 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617816"> 617816 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601730"> PIGC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601730"> 601730 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1510?start=-3&limit=10&highlight=1510"> 1q31.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620393"> ?Intellectual developmental disorder, autosomal recessive 79 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620393"> 620393 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/189940"> TPR </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/189940"> 189940 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1583?start=-3&limit=10&highlight=1583"> 1q32.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618109"> Intellectual developmental disorder, autosomal recessive 65 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618109"> 618109 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605393"> KDM5B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605393"> 605393 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1833?start=-3&limit=10&highlight=1833"> 1q43 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616193"> Intellectual developmental disorder, autosomal recessive 47 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616193"> 616193 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606373"> FMN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606373"> 606373 </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/616887"> ?Intellectual developmental disorder, autosomal recessive 52 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616887"> 616887 </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/2/667?start=-3&limit=10&highlight=667"> 2q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616739"> Intellectual developmental disorder, autosomal recessive 51 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616739"> 616739 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605238"> HNMT </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605238"> 605238 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/762?start=-3&limit=10&highlight=762"> 2q31.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618665"> Intellectual developmental disorder, autosomal recessive 72 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618665"> 618665 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618628"> METTL5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618628"> 618628 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/12?start=-3&limit=10&highlight=12"> 3p26.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607417"> Intellectual developmental disorder, autosomal recessive 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607417"> 607417 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609262"> CRBN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609262"> 609262 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/511?start=-3&limit=10&highlight=511"> 3q12.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618383"> Intellectual developmental disorder, autosomal recessive 69 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618383"> 618383 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618181"> ZBTB11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618181"> 618181 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/813?start=-3&limit=10&highlight=813"> 3q25.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618402"> Intellectual developmental disorder, autosomal recessive 70 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618402"> 618402 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613352"> RSRC1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613352"> 613352 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/863?start=-3&limit=10&highlight=863"> 3q26.2-q26.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617028"> Intellectual developmental disorder, autosomal recessive 54 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617028"> 617028 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610005"> TNIK </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610005"> 610005 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/210?start=-3&limit=10&highlight=210"> 4q12-q13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614329"> Intellectual developmental disorder, autosomal recessive 31 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614329"> 614329 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614329"> MRT31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614329"> 614329 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/510?start=-3&limit=10&highlight=510"> 4q26 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/249500"> Intellectual developmental disorder, autosomal recessive 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/249500"> 249500 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606709"> PRSS12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606709"> 606709 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/521?start=-3&limit=10&highlight=521"> 4q27-q28.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614333"> Intellectual developmental disorder, autosomal recessive 29 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614333"> 614333 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614333"> MRT29 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614333"> 614333 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/39?start=-3&limit=10&highlight=39"> 5p15.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611091"> Intellectual developmental disorder, autosomal recessive 5 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611091"> 611091 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610916"> NSUN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610916"> 610916 </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/618095"> ?Intellectual developmental disorder, autosomal recessive 63 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618095"> 618095 </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/5/671?start=-3&limit=10&highlight=671"> 5q33.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616116"> Intellectual developmental disorder, autosomal recessive 46 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616116"> 616116 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600853"> NDST1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600853"> 600853 </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/619931"> ?Intellectual developmental disorder, autosomal recessive 76 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619931"> 619931 </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/6/580?start=-3&limit=10&highlight=580"> 6p12.2-q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614345"> Intellectual developmental disorder, autosomal recessive 24 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614345"> 614345 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614345"> MRT24 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614345"> 614345 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/622?start=-3&limit=10&highlight=622"> 6q12-q15 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614342"> Intellectual developmental disorder, autosomal recessive 30 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614342"> 614342 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614342"> MRT30 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614342"> 614342 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/733?start=-3&limit=10&highlight=733"> 6q16.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620700"> Intellectual developmental disorder, autosomal recessive 81 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620700"> 620700 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614217"> ASCC3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614217"> 614217 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/734?start=-3&limit=10&highlight=734"> 6q16.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611092"> Intellectual developmental disorder, autosomal recessive 6 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611092"> 611092 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138244"> GRIK2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/138244"> 138244 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/857?start=-3&limit=10&highlight=857"> 6q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614249"> Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614249"> 614249 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605042"> MED23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605042"> 605042 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/1007?start=-3&limit=10&highlight=1007"> 6q26-q27 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614347"> Intellectual developmental disorder, autosomal recessive 28 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614347"> 614347 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614347"> MRT28 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614347"> 614347 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/769?start=-3&limit=10&highlight=769"> 7q34 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620653"> Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620653"> 620653 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600639"> CASP2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600639"> 600639 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/70?start=-3&limit=10&highlight=70"> 8p22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611093"> Intellectual developmental disorder, autosomal recessive 7 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611093"> 611093 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601385"> TUSC3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601385"> 601385 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/188?start=-3&limit=10&highlight=188"> 8p12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615541"> Intellectual developmental disorder, autosomal recessive 39 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615541"> 615541 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614426"> TTI2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614426"> 614426 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/370?start=-3&limit=10&highlight=370"> 8q21.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617323"> Intellectual developmental disorder, autosomal recessive 59 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617323"> 617323 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602064"> IMPA1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602064"> 602064 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/511?start=-3&limit=10&highlight=511"> 8q24.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615599"> Intellectual developmental disorder, autosomal recessive 40 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615599"> 615599 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604912"> TAF2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604912"> 604912 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/579?start=-3&limit=10&highlight=579"> 8q24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613192"> Intellectual developmental disorder, autosomal recessive 13 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613192"> 613192 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611966"> TRAPPC9 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611966"> 611966 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/47?start=-3&limit=10&highlight=47"> 9p23-p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614208"> Intellectual developmental disorder, autosomal recessive 16 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614208"> 614208 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614208"> MRT16 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614208"> 614208 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/166?start=-3&limit=10&highlight=166"> 9p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617773"> Intellectual developmental disorder, autosomal recessive 61 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617773"> 617773 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611053"> RUSC2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611053"> 611053 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/681?start=-3&limit=10&highlight=681"> 9q34.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614202"> Rafiq syndrome </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614202"> 614202 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604346"> MAN1B1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604346"> 604346 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/89?start=-3&limit=10&highlight=89"> 10p12.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620779"> Intellectual developmental disorder, autosomal recessive 82 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620779"> 620779 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617199"> NSUN6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617199"> 617199 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/219?start=-3&limit=10&highlight=219"> 10q21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615493"> Intellectual developmental disorder, autosomal recessive 37 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615493"> 615493 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600465"> ANK3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600465"> 600465 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/617?start=-3&limit=10&highlight=617"> 10q26.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620237"> Intellectual developmental disorder, autosomal recessive 78 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620237"> 620237 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606417"> WDR11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606417"> 606417 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/44?start=-3&limit=10&highlight=44"> 11p15.5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619827"> Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619827"> 619827 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605247"> PIDD1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605247"> 605247 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/151?start=-3&limit=10&highlight=151"> 11p15.4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618295"> Intellectual developmental disorder, autosomal recessive 67 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618295"> 618295 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603914"> EIF3F </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603914"> 603914 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/276?start=-3&limit=10&highlight=276"> 11p13-q14.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614344"> Intellectual developmental disorder, autosomal recessive 23 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614344"> 614344 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614344"> MRT23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614344"> 614344 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/889?start=-3&limit=10&highlight=889"> 11q22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618504"> Intellectual developmental disorder, autosomal recessive 71 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618504"> 618504 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613306"> ALKBH8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613306"> 613306 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/34?start=-3&limit=10&highlight=34"> 12p13.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618221"> Intellectual developmental disorder, autosomal recessive 66 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618221"> 618221 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616082"> C12orf4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616082"> 616082 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/312?start=-3&limit=10&highlight=312"> 12q13.11-q15 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614346"> Intellectual developmental disorder, autosomal recessive 25 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614346"> 614346 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614346"> MRT25 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614346"> 614346 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/579?start=-3&limit=10&highlight=579"> 12q14.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/621100"> Intellectual developmental disorder, autosomal recessive 83 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/621100"> 621100 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617420"> KICS2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617420"> 617420 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/689?start=-3&limit=10&highlight=689"> 12q22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614499"> Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614499"> 614499 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603454"> CRADD </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603454"> 603454 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/752?start=-3&limit=10&highlight=752"> 12q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615817"> Intellectual developmental disorder, autosomal recessive 43 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615817"> 615817 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615748"> WASHC4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615748"> 615748 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/8?start=-3&limit=10&highlight=8"> 14q11.2-q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611095"> Intellectual developmental disorder, autosomal recessive 9/26 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611095"> 611095 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611095"> MRT9 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611095"> 611095 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/439?start=-3&limit=10&highlight=439"> 14q31.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617125"> Intellectual developmental disorder, autosomal recessive 56 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617125"> 617125 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613279"> ZC3H14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613279"> 613279 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/45?start=-3&limit=10&highlight=45"> 15q13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615516"> Intellectual developmental disorder, autosomal recessive 38 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615516"> 615516 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605837"> HERC2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605837"> 605837 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/382?start=-3&limit=10&highlight=382"> 15q24.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616460"> ?Intellectual developmental disorder, autosomal recessive 50 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616460"> 616460 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609842"> EDC3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609842"> 609842 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/416?start=-3&limit=10&highlight=416"> 15q24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618103"> Intellectual developmental disorder, autosomal recessive 64 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618103"> 618103 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609791"> LINGO1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609791"> 609791 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/544?start=-3&limit=10&highlight=544"> 15q26.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614340"> Intellectual developmental disorder, autosomal recessive 27 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614340"> 614340 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610350"> LINS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610350"> 610350 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/257?start=-3&limit=10&highlight=257"> 16p12.2-q12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611096"> Intellectual developmental disorder, autosomal recessive 10/20 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611096"> 611096 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611096"> MRT10 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611096"> 611096 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/719?start=-3&limit=10&highlight=719"> 16q24.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615979"> ?Intellectual developmental disorder, autosomal recessive 45 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615979"> 615979 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609102"> FBXO31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609102"> 609102 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/56?start=-3&limit=10&highlight=56"> 17p13.2-p13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614341"> Intellectual developmental disorder, autosomal recessive 33 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614341"> 614341 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614341"> MRT33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614341"> 614341 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/597?start=-3&limit=10&highlight=597"> 17q21.31-q22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615162"> Intellectual developmental disorder, autosomal recessive 35 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615162"> 615162 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615162"> MRT35 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615162"> 615162 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/981?start=-3&limit=10&highlight=981"> 17q25.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615942"> Intellectual developmental disorder, autosomal recessive 44 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615942"> 615942 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615262"> METTL23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615262"> 615262 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/18/140?start=-3&limit=10&highlight=140"> 18q12.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617270"> Intellectual developmental disorder, autosomal recessive 58 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617270"> 617270 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616054"> ELP2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616054"> 616054 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/55?start=-3&limit=10&highlight=55"> 19p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617169"> Intellectual developmental disorder, autosomal recessive 74 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617169"> 617169 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612034"> APC2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612034"> 612034 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/69?start=-3&limit=10&highlight=69"> 19p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615286"> Neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615286"> 615286 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615302"> ADAT3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615302"> 615302 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/351?start=-3&limit=10&highlight=351"> 19p13.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618302"> Intellectual developmental disorder, autosomal recessive 68 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618302"> 618302 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611669"> TRMT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611669"> 611669 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/365?start=-3&limit=10&highlight=365"> 19p13.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608443"> Intellectual developmental disorder, autosomal recessive 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608443"> 608443 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610055"> CC2D1A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610055"> 610055 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/382?start=-3&limit=10&highlight=382"> 19p13.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614020"> Intellectual developmental disorder, autosomal recessive 14 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614020"> 614020 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610057"> TECR </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610057"> 610057 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/636?start=-3&limit=10&highlight=636"> 19q13.2-q13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611097"> Intellectual developmental disorder, autosomal recessive 11 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611097"> 611097 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611097"> MRT11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611097"> 611097 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/873?start=-3&limit=10&highlight=873"> 19q13.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615637"> Intellectual developmental disorder, autosomal recessive 41 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615637"> 615637 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615620"> KPTN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615620"> 615620 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/1123?start=-3&limit=10&highlight=1123"> 19q13.42 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617188"> Intellectual developmental disorder, autosomal recessive 57 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617188"> 617188 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606048"> MBOAT7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606048"> 606048 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/130?start=-3&limit=10&highlight=130"> 20p11.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619717"> Intellectual developmental disorder, autosomal recessive 73 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619717"> 619717 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610833"> NAA20 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610833"> 610833 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="text-right small">
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
</div>
<div>
<br />
</div>
<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>
</span>
</span>
</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 recessive intellectual developmental disorder-78 (MRT78) is caused by homozygous or compound heterozygous mutation in the WDR11 gene (<a href="/entry/606417">606417</a>) on chromosome 10q26.</p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="description" class="mim-anchor"></a>
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
</div>
<div id="mimDescriptionFold" class="collapse in ">
<span class="mim-text-font">
<p>Autosomal recessive intellectual developmental disorder-78 (MRT78) is a neurodevelopmental disorder characterized by impaired intellectual development that is usually mild, but shows variable severity. Affected individuals have microcephaly and mild short stature. Additional features may include ocular abnormalities and mild skeletal defects (<a href="#1" class="mim-tip-reference" title="Haag, N., Tan, E.-C., Begemann, M., Buschmann, L., Kraft, F., Holschbach, P., Lai, A. H. M., Brett, M., Mochida, G. H., DiTroia, S., Pais, L., Neil, J. E., Al-Saffar, M., Bastaki, L., Walsh, C. A., Kurth, I., Knopp, C. &lt;strong&gt;Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.&lt;/strong&gt; Europ. J. Hum. Genet. 29: 1663-1668, 2021.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/34413497/&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;34413497&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=34413497[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/s41431-021-00943-5&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="34413497">Haag et al., 2021</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34413497" 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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<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>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
</div>
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<p><a href="#1" class="mim-tip-reference" title="Haag, N., Tan, E.-C., Begemann, M., Buschmann, L., Kraft, F., Holschbach, P., Lai, A. H. M., Brett, M., Mochida, G. H., DiTroia, S., Pais, L., Neil, J. E., Al-Saffar, M., Bastaki, L., Walsh, C. A., Kurth, I., Knopp, C. &lt;strong&gt;Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.&lt;/strong&gt; Europ. J. Hum. Genet. 29: 1663-1668, 2021.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/34413497/&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;34413497&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=34413497[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/s41431-021-00943-5&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="34413497">Haag et al. (2021)</a> reported 6 patients from 3 unrelated families of various ethnic origins (from Syria, Singapore, and Kuwait) with variably impaired intellectual development, microcephaly, and mild short stature. Three patients from families A and B ranged from 8 to 12 years of age, whereas 3 affected sibs in family C were adults between 26 and 30 years of age. In all but 1 patient, intellectual disability was mild: 1 patient from family A had an IQ of 66, and 2 patients from family C were able to attend special schooling and work or volunteer in their communities. The most severely affected patient (family C) had no meaningful speech and needed to be fed at 30 years of age. Head circumference fell as low as -4.93 SD, although 2 of the older individuals showed improvement in head size over time (-3 to -4 SD as a child to -2 to -3 as adults). Brain imaging was normal in 3 patients who were studied. Additional features observed in 1 or 2 patients included skin hypopigmentation, myopia, strabismus, exotropia, optic neuropathy, high-arched palate, microretrognathia, narrow chest, kyphoscoliosis, fifth finger clinodactyly, and brachydactyly. One patient had mild sensorineural hearing loss. None had evidence of pituitary or endocrine abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34413497" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of MRT78 in the families reported by <a href="#1" class="mim-tip-reference" title="Haag, N., Tan, E.-C., Begemann, M., Buschmann, L., Kraft, F., Holschbach, P., Lai, A. H. M., Brett, M., Mochida, G. H., DiTroia, S., Pais, L., Neil, J. E., Al-Saffar, M., Bastaki, L., Walsh, C. A., Kurth, I., Knopp, C. &lt;strong&gt;Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.&lt;/strong&gt; Europ. J. Hum. Genet. 29: 1663-1668, 2021.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/34413497/&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;34413497&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=34413497[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/s41431-021-00943-5&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="34413497">Haag et al. (2021)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34413497" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 6 patients from 3 unrelated families with MRT78, <a href="#1" class="mim-tip-reference" title="Haag, N., Tan, E.-C., Begemann, M., Buschmann, L., Kraft, F., Holschbach, P., Lai, A. H. M., Brett, M., Mochida, G. H., DiTroia, S., Pais, L., Neil, J. E., Al-Saffar, M., Bastaki, L., Walsh, C. A., Kurth, I., Knopp, C. &lt;strong&gt;Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.&lt;/strong&gt; Europ. J. Hum. Genet. 29: 1663-1668, 2021.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/34413497/&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;34413497&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=34413497[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/s41431-021-00943-5&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="34413497">Haag et al. (2021)</a> identified homozygous or compound heterozygous loss-of-function mutations in the WDR11 gene (<a href="/entry/606417#0004">606417.0004</a>-<a href="/entry/606417#0007">606417.0007</a>). The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in all 3 families. Western blot analysis of fibroblasts from 1 of the patients demonstrated complete absence of the WDR11 protein. Functional studies of the variants were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34413497" 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="Haag2021" class="mim-anchor"></a>
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Haag, N., Tan, E.-C., Begemann, M., Buschmann, L., Kraft, F., Holschbach, P., Lai, A. H. M., Brett, M., Mochida, G. H., DiTroia, S., Pais, L., Neil, J. E., Al-Saffar, M., Bastaki, L., Walsh, C. A., Kurth, I., Knopp, C.
<strong>Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.</strong>
Europ. J. Hum. Genet. 29: 1663-1668, 2021.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34413497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34413497</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34413497[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=34413497" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/s41431-021-00943-5" target="_blank">Full Text</a>]
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Cassandra L. Kniffin : 02/03/2023
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ckniffin : 02/06/2023
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<strong>#</strong> 620237
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<span class="mim-font">
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78; MRT78
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
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<th>
Inheritance
</th>
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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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10q26.12
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Intellectual developmental disorder, autosomal recessive 78
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620237
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Autosomal recessive
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3
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WDR11
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606417
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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 recessive intellectual developmental disorder-78 (MRT78) is caused by homozygous or compound heterozygous mutation in the WDR11 gene (606417) on chromosome 10q26.</p>
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<strong>Description</strong>
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<p>Autosomal recessive intellectual developmental disorder-78 (MRT78) is a neurodevelopmental disorder characterized by impaired intellectual development that is usually mild, but shows variable severity. Affected individuals have microcephaly and mild short stature. Additional features may include ocular abnormalities and mild skeletal defects (Haag et al., 2021). </p>
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<strong>Clinical Features</strong>
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<p>Haag et al. (2021) reported 6 patients from 3 unrelated families of various ethnic origins (from Syria, Singapore, and Kuwait) with variably impaired intellectual development, microcephaly, and mild short stature. Three patients from families A and B ranged from 8 to 12 years of age, whereas 3 affected sibs in family C were adults between 26 and 30 years of age. In all but 1 patient, intellectual disability was mild: 1 patient from family A had an IQ of 66, and 2 patients from family C were able to attend special schooling and work or volunteer in their communities. The most severely affected patient (family C) had no meaningful speech and needed to be fed at 30 years of age. Head circumference fell as low as -4.93 SD, although 2 of the older individuals showed improvement in head size over time (-3 to -4 SD as a child to -2 to -3 as adults). Brain imaging was normal in 3 patients who were studied. Additional features observed in 1 or 2 patients included skin hypopigmentation, myopia, strabismus, exotropia, optic neuropathy, high-arched palate, microretrognathia, narrow chest, kyphoscoliosis, fifth finger clinodactyly, and brachydactyly. One patient had mild sensorineural hearing loss. None had evidence of pituitary or endocrine abnormalities. </p>
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<h4>
<span class="mim-font">
<strong>Inheritance</strong>
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</h4>
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<p>The transmission pattern of MRT78 in the families reported by Haag et al. (2021) was consistent with autosomal recessive inheritance. </p>
</span>
<div>
<br />
</div>
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<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In 6 patients from 3 unrelated families with MRT78, Haag et al. (2021) identified homozygous or compound heterozygous loss-of-function mutations in the WDR11 gene (606417.0004-606417.0007). The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in all 3 families. Western blot analysis of fibroblasts from 1 of the patients demonstrated complete absence of the WDR11 protein. Functional studies of the variants were not performed. </p>
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<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Haag, N., Tan, E.-C., Begemann, M., Buschmann, L., Kraft, F., Holschbach, P., Lai, A. H. M., Brett, M., Mochida, G. H., DiTroia, S., Pais, L., Neil, J. E., Al-Saffar, M., Bastaki, L., Walsh, C. A., Kurth, I., Knopp, C.
<strong>Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability.</strong>
Europ. J. Hum. Genet. 29: 1663-1668, 2021.
[PubMed: 34413497]
[Full Text: https://doi.org/10.1038/s41431-021-00943-5]
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Cassandra L. Kniffin : 02/03/2023
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alopez : 02/08/2023<br>ckniffin : 02/06/2023
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