2521 lines
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Entry
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- #616973 - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 42; MRD42
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- OMIM
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<p>
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<span class="h4">#616973</span>
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<br />
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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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<li role="presentation">
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<a href="/clinicalSynopsis/616973"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</h4>
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<div><a href="https://clinicaltrials.gov/search?cond=INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=25407&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK554743/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=616973[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=488613" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div style="display: table-cell;">Animal Models</div>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0070072" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/616973" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0070072" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 488613<br />
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<strong>DO:</strong> 0070072<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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616973
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</span>
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</span>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 42; MRD42
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/1/58?start=-3&limit=10&highlight=58">
|
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1p36.33
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Intellectual developmental disorder, autosomal dominant 42
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/616973"> 616973 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</td>
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<td>
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<span class="mim-font">
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GNB1
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/139380"> 139380 </a>
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</span>
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</td>
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</tr>
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</tbody>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/616973" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="sr-only">Toggle Dropdown</span>
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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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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/616973" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/616973" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
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</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>
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<div>
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<p />
|
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> INHERITANCE </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
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</span>
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Other </em>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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|
|
- Failure to thrive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432788009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432788009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015544</a>, <a href="https://bioportal.bioontology.org/search?q=C2315100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2315100</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span><br /> -
|
|
Poor overall postnatal growth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4314177&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4314177</a>]</span><br />
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</span>
|
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</div>
|
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- 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 /> -
|
|
Nystagmus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/563001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">563001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028738</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span><br /> -
|
|
Impaired smooth pursuit <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837458&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837458</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007772" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007772</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007772" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007772</a>]</span><br /> -
|
|
Cortical visual impairment (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413924001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413924001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432141000124105" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432141000124105</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4048268&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4048268</a>, <a href="https://bioportal.bioontology.org/search?q=C3810365&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3810365</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100704" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100704</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100704" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100704</a>]</span><br /> -
|
|
Ophthalmoplegia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16110005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16110005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029089&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029089</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000602" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000602</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000602" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000602</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">
|
|
|
|
- Cleft palate (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63567004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63567004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87979003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87979003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837218</a>, <a href="https://bioportal.bioontology.org/search?q=C2981150&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2981150</a>, <a href="https://bioportal.bioontology.org/search?q=C2240378&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2240378</a>, <a href="https://bioportal.bioontology.org/search?q=C0008925&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008925</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span><br />
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|
|
</span>
|
|
</div>
|
|
</div>
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|
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</div>
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
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|
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|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hydronephrosis (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43064006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43064006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.30</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/591" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">591</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020295&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020295</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000126</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000126</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
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</div>
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|
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</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skull </em>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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- Craniosynostosis (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57219006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57219006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1421244&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1421244</a>, <a href="https://bioportal.bioontology.org/search?q=C5848303&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5848303</a>, <a href="https://bioportal.bioontology.org/search?q=C0010278&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010278</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001363" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001363</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0005458" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005458</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001363" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001363</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> SKIN, NAILS, & HAIR </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Skin </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Cutaneous mastocytosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/703827008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">703827008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397012002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397012002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D47.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D47.01</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1136033&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1136033</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200151" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200151</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200151" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200151</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MUSCLE, SOFT TISSUES </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> NEUROLOGIC </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Central Nervous System </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Global developmental delay <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/224958001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">224958001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F88</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0557874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0557874</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span><br /> -
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Impaired intellectual development <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4747273&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4747273</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
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Limb hypertonia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838391&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838391</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002509" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002509</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002509" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002509</a>]</span><br /> -
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Seizures, variable types <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4314178&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4314178</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
|
|
Abnormal EEG <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/274521009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">274521009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R94.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R94.01</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151611&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151611</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002353" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002353</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002353" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002353</a>]</span><br /> -
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Ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20262006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20262006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39384006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39384006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85102008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85102008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R27.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R27.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.84</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004134&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004134</a>, <a href="https://bioportal.bioontology.org/search?q=C1135207&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1135207</a>, <a href="https://bioportal.bioontology.org/search?q=C0007758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007758</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0010867" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010867</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>]</span><br /> -
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|
Delayed myelination <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/135810007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">135810007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1277241&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1277241</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012448" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012448</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012448" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012448</a>]</span><br /> -
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|
Cerebellar hypoplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16026008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16026008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266470&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266470</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001321" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001321</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001321" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001321</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- 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 /> -
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Variable features<br /> -
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De novo mutation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2985439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2985439</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the guanine nucleotide-binding protein, beta-1 gene (GNB1, <a href="/entry/139380#0001">139380.0001</a>)<br />
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</span>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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<div>
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<br />
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<p>A number sign (#) is used with this entry because of evidence that autosomal dominant intellectual developmental disorder-42 (MRD42) is caused by heterozygous mutation in the GNB1 gene (<a href="/entry/139380">139380</a>) on chromosome 1p36.</p>
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<p>Autosomal dominant intellectual developmental disorder-42 (MRD42) is characterized by global developmental delay and impaired intellectual development. More variable features include hypotonia, often later associated with limb hypertonia, seizures of various types, and poor overall growth. Strabismus, cortical visual impairment, and autistic features may also be present (summary by <a href="#4" class="mim-tip-reference" title="Petrovski, S., Kury, S., Myers, C. T., Anyane-Yeboa, K., Cogne, B., Bialer, M., Xia, F., Hemati, P., Riviello, J., Mehaffey, M., Besnard, T., Becraft, E., and 35 others. <strong>Germline de novo mutations in GNB1 cause severe neurodevelopmental disability, hypotonia, and seizures.</strong> Am. J. Hum. Genet. 98: 1001-1010, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27108799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27108799</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.03.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27108799">Petrovski et al., 2016</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27108799" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Petrovski, S., Kury, S., Myers, C. T., Anyane-Yeboa, K., Cogne, B., Bialer, M., Xia, F., Hemati, P., Riviello, J., Mehaffey, M., Besnard, T., Becraft, E., and 35 others. <strong>Germline de novo mutations in GNB1 cause severe neurodevelopmental disability, hypotonia, and seizures.</strong> Am. J. Hum. Genet. 98: 1001-1010, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27108799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27108799</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.03.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27108799">Petrovski et al. (2016)</a> reported 13 unrelated individuals, ranging in age from 13 months to 20 years, with global developmental delay. Additional common, but somewhat variable, features included hypotonia (11 patients), seizures (10 patients), and poor overall growth without microcephaly. Hypotonia varied in severity: 3 patients were unable to ambulate and 4 developed limb hypertonia. Seizures types included focal, generalized, myoclonic, atonic, tonic, absence, and complex partial, and the age at seizure onset ranged from infancy to 11 years. EEG patterns were variable, with generalized slowing and multifocal spikes; some patients showed hypsarrhythmia. Eight patients had variable ophthalmologic abnormalities, including strabismus, nystagmus, slow ocular pursuit, and cortical visual impairment. A few patients had autism spectrum disorder or attention deficit-hyperactivity disorder, and 2 had hydronephrosis. Some had mild dysmorphic features, such as cleft palate, but there was no recognizable gestalt. Brain imaging was normal in most patients, but 1 patient had polymicrogyria and delayed myelination. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27108799" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Lohmann, K., Masuho, I., Patil, D. N., Baumann, H., Hebert, E., Steinrucke, S., Trujillano, D., Skamangas, N. K., Dobricic, V., Huning, I., Gillessen-Kaesbach, G., Westenberger, A., Savic-Pavicevic, D., Munchau, A., Oprea, G., Klein, C., Rolfs, A., Martemyanov, K. A. <strong>Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.</strong> Hum. Molec. Genet. 26: 1078-1086, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28087732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28087732</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28087732[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddx018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28087732">Lohmann et al. (2017)</a> reported 16 patients, aged 1 to 12 years, of whom 15 had global developmental delay, 5 had growth delay, 7 had hypotonia, 3 had craniosynostosis, 13 had impaired intellectual development, and 9 had seizures. Brain imaging findings included cerebellar hypoplasia in 3 patients and abnormal myelination in 6. Seven patients had nystagmus and 4 patients had ophthalmoplegia. Movement disorders included ataxia in 5 patients, chorea in 1 patient, and dystonia in 1 patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28087732" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Hemati, P., Revah-Politi, A., Bassan, H., Petrovski, S., Bilancia, C. G., Ramsey, K., Griffin, N. G., Bier, L., Cho, M. T., Rosello, M., Lynch, S. A., Colombo, S., and 42 others. <strong>Refining the phenotype associated with GNB1 mutations: clinical data on 18 newly identified patients and review of the literature.</strong> Am. J. Med. Genet. 176A: 2259-2275, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30194818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30194818</a>] [<a href="https://doi.org/10.1002/ajmg.a.40472" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30194818">Hemati et al. (2018)</a> reported 18 patients, aged 2 to 16 years, of whom all had moderate to severe neurodevelopmental deficits and 17 had motor delay. All of the patients had speech delay, and 13 were nonverbal. Brain MRI findings in the cohort that were observed in at least 2 patients included abnormal or delayed myelination, abnormal corpus callosum, cerebral volume loss, and/or ventriculomegaly. Six of the patients had epilepsy. Four of 8 males had genitourinary anomalies, including 3 with undescended tests and 1 with bifid scrotum and duplicated collecting system. Eleven of the patients had gastrointestinal abnormalities including recurrent constipation and cyclical vomiting. Cutaneous mastocytosis was seen in 3 patients. One patient had a ventricular septal defect and one had a duplicated superior vena cava. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30194818" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Szczaluba, K., Biernacka, A., Szymanska, K., Gasperowicz, P., Kosinska, J., Rydzanicz, M., Ploski, R. <strong>Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: clinical report and literature review.</strong> Europ. J. Med. Genet. 61: 157-160, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29174093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29174093</a>] [<a href="https://doi.org/10.1016/j.ejmg.2017.11.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29174093">Szczaluba et al. (2018)</a> reported a patient who had severely delayed gross and fine motor skills within the first year of life. A neurologic assessment revealed muscular hypotonia and upper limb choreoathetosis. Features of cutaneous mastocytosis presented at the end of the first year of life, and urticaria pigmentosa was confirmed by skin biopsy. At age 4 years, she had global developmental delay and generalized hypotonia. 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<p>In 13 unrelated patients with MRD42, <a href="#4" class="mim-tip-reference" title="Petrovski, S., Kury, S., Myers, C. T., Anyane-Yeboa, K., Cogne, B., Bialer, M., Xia, F., Hemati, P., Riviello, J., Mehaffey, M., Besnard, T., Becraft, E., and 35 others. <strong>Germline de novo mutations in GNB1 cause severe neurodevelopmental disability, hypotonia, and seizures.</strong> Am. J. Hum. Genet. 98: 1001-1010, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27108799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27108799</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.03.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27108799">Petrovski et al. (2016)</a> identified 9 different de novo heterozygous missense mutations in the GNB1 gene (see, e.g., <a href="/entry/139380#0001">139380.0001</a>-<a href="/entry/139380#0005">139380.0005</a>). The mutations were identified by exome sequencing and confirmed by Sanger sequencing. The patients were ascertained from a cohort of 5,855 individuals with a presumed genetic disorder of unknown cause. Functional studies and studies of patient cells were not performed by <a href="#4" class="mim-tip-reference" title="Petrovski, S., Kury, S., Myers, C. T., Anyane-Yeboa, K., Cogne, B., Bialer, M., Xia, F., Hemati, P., Riviello, J., Mehaffey, M., Besnard, T., Becraft, E., and 35 others. <strong>Germline de novo mutations in GNB1 cause severe neurodevelopmental disability, hypotonia, and seizures.</strong> Am. J. Hum. Genet. 98: 1001-1010, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27108799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27108799</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.03.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27108799">Petrovski et al. (2016)</a>. However, <a href="#4" class="mim-tip-reference" title="Petrovski, S., Kury, S., Myers, C. T., Anyane-Yeboa, K., Cogne, B., Bialer, M., Xia, F., Hemati, P., Riviello, J., Mehaffey, M., Besnard, T., Becraft, E., and 35 others. <strong>Germline de novo mutations in GNB1 cause severe neurodevelopmental disability, hypotonia, and seizures.</strong> Am. J. Hum. Genet. 98: 1001-1010, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27108799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27108799</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.03.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27108799">Petrovski et al. (2016)</a> noted that <a href="#6" class="mim-tip-reference" title="Yoda, A., Adelmant, G., Tamburini, J., Chapuy, B., Shindoh, N., Yoda, Y., Weigert, O., Kopp, N., Wu, S.-C., Kim, S. S., Liu, H., Tivey, T., and 17 others. <strong>Mutations in G protein beta subunits promote transformation and kinase inhibitor resistance.</strong> Nature Med. 21: 71-75, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25485910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25485910</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25485910[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nm.3751" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25485910">Yoda et al. (2015)</a> had identified somatic mutations in the GNB1 gene that were associated with hematologic transformation. Functional studies of 3 of the mutations (D76G, <a href="/entry/139380#0001">139380.0001</a>; I80T, <a href="/entry/139380#0002">139380.0002</a>; I80N, <a href="/entry/139380#0003">139380.0003</a>) that were also identified as germline mutations in the patients reported by <a href="#4" class="mim-tip-reference" title="Petrovski, S., Kury, S., Myers, C. T., Anyane-Yeboa, K., Cogne, B., Bialer, M., Xia, F., Hemati, P., Riviello, J., Mehaffey, M., Besnard, T., Becraft, E., and 35 others. <strong>Germline de novo mutations in GNB1 cause severe neurodevelopmental disability, hypotonia, and seizures.</strong> Am. J. Hum. Genet. 98: 1001-1010, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27108799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27108799</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.03.011" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27108799">Petrovski et al. (2016)</a> had reduced binding to almost all G-alpha subunits and/or conferred cytokine-independent growth and activation of canonical G protein downstream signaling through disruption of the G-alpha/G-beta/G-gamma interaction interface. The mutations resulted in activation of the PI3K-AKT-mTOR and MAPK pathways, consistent with a gain of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=27108799+25485910" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 16 patients with MRD42, <a href="#3" class="mim-tip-reference" title="Lohmann, K., Masuho, I., Patil, D. N., Baumann, H., Hebert, E., Steinrucke, S., Trujillano, D., Skamangas, N. K., Dobricic, V., Huning, I., Gillessen-Kaesbach, G., Westenberger, A., Savic-Pavicevic, D., Munchau, A., Oprea, G., Klein, C., Rolfs, A., Martemyanov, K. A. <strong>Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.</strong> Hum. Molec. Genet. 26: 1078-1086, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28087732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28087732</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28087732[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddx018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28087732">Lohmann et al. (2017)</a> identified 14 mutations in the GNB1 gene, including 2 frameshift mutations (<a href="/entry/139380#0007">139380.0007</a> and <a href="/entry/139380#0008">139380.0008</a>), 2 splicing mutations (<a href="/entry/139380#0006">139380.0006</a> and <a href="/entry/139380#0009">139380.0009</a>), and 10 missense mutations (see, e.g., <a href="/entry/139380#0010">139380.0010</a>). The mutations were identified by whole-exome sequencing and confirmed by Sanger sequencing; 1 mutation was inherited from a parent, 10 were de novo, and the inheritance of 3 mutations could not be determined due to lack of parental samples. Using a cell-based bioluminescence resonance energy transfer (BRET) assay, <a href="#3" class="mim-tip-reference" title="Lohmann, K., Masuho, I., Patil, D. N., Baumann, H., Hebert, E., Steinrucke, S., Trujillano, D., Skamangas, N. K., Dobricic, V., Huning, I., Gillessen-Kaesbach, G., Westenberger, A., Savic-Pavicevic, D., Munchau, A., Oprea, G., Klein, C., Rolfs, A., Martemyanov, K. A. <strong>Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.</strong> Hum. Molec. Genet. 26: 1078-1086, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28087732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28087732</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28087732[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddx018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28087732">Lohmann et al. (2017)</a> demonstrated that 7 of the missense mutations resulted in deficits in receptor-driven G protein activation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28087732" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Hemati, P., Revah-Politi, A., Bassan, H., Petrovski, S., Bilancia, C. G., Ramsey, K., Griffin, N. G., Bier, L., Cho, M. T., Rosello, M., Lynch, S. A., Colombo, S., and 42 others. <strong>Refining the phenotype associated with GNB1 mutations: clinical data on 18 newly identified patients and review of the literature.</strong> Am. J. Med. Genet. 176A: 2259-2275, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30194818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30194818</a>] [<a href="https://doi.org/10.1002/ajmg.a.40472" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30194818">Hemati et al. (2018)</a> reported 18 patients with MRD42 and de novo heterozygous mutations in the GNB1 gene. Twelve patients had heterozygosity for previously identified mutations, including 8 patients with I80T (<a href="/entry/139380#0002">139380.0002</a>). One of the mutations (C114Y; 13980.0011) was identified in a somatic mosaic state. All of the mutations were found by trio whole-exome sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30194818" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 4-year-old girl with MRD42 <a href="/entry/616973">616973</a>, <a href="#5" class="mim-tip-reference" title="Szczaluba, K., Biernacka, A., Szymanska, K., Gasperowicz, P., Kosinska, J., Rydzanicz, M., Ploski, R. <strong>Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: clinical report and literature review.</strong> Europ. J. Med. Genet. 61: 157-160, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29174093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29174093</a>] [<a href="https://doi.org/10.1016/j.ejmg.2017.11.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29174093">Szczaluba et al. (2018)</a> identified a de novo heterozygous missense mutation (G77V; <a href="/entry/139380#0012">139380.0012</a>) in the GNB1 gene. The mutation was found by trio whole-exome sequencing and confirmed by Sanger sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29174093" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Genotype/Phenotype Correlations</strong>
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<p><a href="#2" class="mim-tip-reference" title="Lansdon, L. A., Saunders, C. J. <strong>Genotype-phenotype correlation in GNB1-related neurodevelopmental disorder: potential association of p.Leu95Pro with cleft palate.</strong> Am. J. Med. Genet. 185A: 1341-1343, 2021.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33427398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33427398</a>] [<a href="https://doi.org/10.1002/ajmg.a.62080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="33427398">Lansdon and Saunders (2021)</a> noted that a genotype-phenotype correlation has been proposed between the most commonly mutated residue in the GNB1 gene, I80, and cutaneous mastocytosis, severe axial hypotonia or hypotonic quadriplegia, and dystonia. They reported that 4 of 5 patients with MRD42 and an L95P mutation in the GNB1 gene had cleft palate. Statistical analysis of patients with clefting versus those without who had L95P compared to all other GNB1 variants combined revealed an association with cleft palate (p = 0.00013). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33427398" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Hemati2018" class="mim-anchor"></a>
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<div class="">
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Hemati, P., Revah-Politi, A., Bassan, H., Petrovski, S., Bilancia, C. G., Ramsey, K., Griffin, N. G., Bier, L., Cho, M. T., Rosello, M., Lynch, S. A., Colombo, S., and 42 others.
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<strong>Refining the phenotype associated with GNB1 mutations: clinical data on 18 newly identified patients and review of the literature.</strong>
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Am. J. Med. Genet. 176A: 2259-2275, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30194818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30194818</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30194818" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.40472" target="_blank">Full Text</a>]
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<a id="Lansdon2021" class="mim-anchor"></a>
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Lansdon, L. A., Saunders, C. J.
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<strong>Genotype-phenotype correlation in GNB1-related neurodevelopmental disorder: potential association of p.Leu95Pro with cleft palate.</strong>
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Am. J. Med. Genet. 185A: 1341-1343, 2021.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33427398/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33427398</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33427398" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.62080" target="_blank">Full Text</a>]
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<a id="Lohmann2017" class="mim-anchor"></a>
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Lohmann, K., Masuho, I., Patil, D. N., Baumann, H., Hebert, E., Steinrucke, S., Trujillano, D., Skamangas, N. K., Dobricic, V., Huning, I., Gillessen-Kaesbach, G., Westenberger, A., Savic-Pavicevic, D., Munchau, A., Oprea, G., Klein, C., Rolfs, A., Martemyanov, K. A.
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<strong>Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.</strong>
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Hum. Molec. Genet. 26: 1078-1086, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28087732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28087732</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28087732[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=28087732" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddx018" target="_blank">Full Text</a>]
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<a id="Petrovski2016" class="mim-anchor"></a>
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Petrovski, S., Kury, S., Myers, C. T., Anyane-Yeboa, K., Cogne, B., Bialer, M., Xia, F., Hemati, P., Riviello, J., Mehaffey, M., Besnard, T., Becraft, E., and 35 others.
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<strong>Germline de novo mutations in GNB1 cause severe neurodevelopmental disability, hypotonia, and seizures.</strong>
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Am. J. Hum. Genet. 98: 1001-1010, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27108799/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27108799</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27108799" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2016.03.011" target="_blank">Full Text</a>]
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<a id="Szczaluba2018" class="mim-anchor"></a>
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Szczaluba, K., Biernacka, A., Szymanska, K., Gasperowicz, P., Kosinska, J., Rydzanicz, M., Ploski, R.
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<strong>Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: clinical report and literature review.</strong>
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Europ. J. Med. Genet. 61: 157-160, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29174093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29174093</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29174093" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ejmg.2017.11.010" target="_blank">Full Text</a>]
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<a id="Yoda2015" class="mim-anchor"></a>
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<p class="mim-text-font">
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Yoda, A., Adelmant, G., Tamburini, J., Chapuy, B., Shindoh, N., Yoda, Y., Weigert, O., Kopp, N., Wu, S.-C., Kim, S. S., Liu, H., Tivey, T., and 17 others.
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<strong>Mutations in G protein beta subunits promote transformation and kinase inhibitor resistance.</strong>
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Nature Med. 21: 71-75, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25485910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25485910</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25485910[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=25485910" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nm.3751" target="_blank">Full Text</a>]
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Hilary J. Vernon - updated : 11/02/2021
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Cassandra L. Kniffin : 6/11/2016
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carol : 03/17/2022
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carol : 03/16/2022<br>carol : 11/03/2021<br>carol : 11/02/2021<br>carol : 06/17/2016<br>ckniffin : 6/14/2016
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<strong>#</strong> 616973
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INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 42; MRD42
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
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<strong>ORPHA:</strong> 488613;
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<strong>DO:</strong> 0070072;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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1p36.33
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Intellectual developmental disorder, autosomal dominant 42
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616973
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Autosomal dominant
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<span class="mim-font">
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3
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GNB1
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<span class="mim-font">
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139380
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that autosomal dominant intellectual developmental disorder-42 (MRD42) is caused by heterozygous mutation in the GNB1 gene (139380) on chromosome 1p36.</p>
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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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<span class="mim-text-font">
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<p>Autosomal dominant intellectual developmental disorder-42 (MRD42) is characterized by global developmental delay and impaired intellectual development. More variable features include hypotonia, often later associated with limb hypertonia, seizures of various types, and poor overall growth. Strabismus, cortical visual impairment, and autistic features may also be present (summary by Petrovski et al., 2016). </p>
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<strong>Clinical Features</strong>
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<p>Petrovski et al. (2016) reported 13 unrelated individuals, ranging in age from 13 months to 20 years, with global developmental delay. Additional common, but somewhat variable, features included hypotonia (11 patients), seizures (10 patients), and poor overall growth without microcephaly. Hypotonia varied in severity: 3 patients were unable to ambulate and 4 developed limb hypertonia. Seizures types included focal, generalized, myoclonic, atonic, tonic, absence, and complex partial, and the age at seizure onset ranged from infancy to 11 years. EEG patterns were variable, with generalized slowing and multifocal spikes; some patients showed hypsarrhythmia. Eight patients had variable ophthalmologic abnormalities, including strabismus, nystagmus, slow ocular pursuit, and cortical visual impairment. A few patients had autism spectrum disorder or attention deficit-hyperactivity disorder, and 2 had hydronephrosis. Some had mild dysmorphic features, such as cleft palate, but there was no recognizable gestalt. Brain imaging was normal in most patients, but 1 patient had polymicrogyria and delayed myelination. </p><p>Lohmann et al. (2017) reported 16 patients, aged 1 to 12 years, of whom 15 had global developmental delay, 5 had growth delay, 7 had hypotonia, 3 had craniosynostosis, 13 had impaired intellectual development, and 9 had seizures. Brain imaging findings included cerebellar hypoplasia in 3 patients and abnormal myelination in 6. Seven patients had nystagmus and 4 patients had ophthalmoplegia. Movement disorders included ataxia in 5 patients, chorea in 1 patient, and dystonia in 1 patient. </p><p>Hemati et al. (2018) reported 18 patients, aged 2 to 16 years, of whom all had moderate to severe neurodevelopmental deficits and 17 had motor delay. All of the patients had speech delay, and 13 were nonverbal. Brain MRI findings in the cohort that were observed in at least 2 patients included abnormal or delayed myelination, abnormal corpus callosum, cerebral volume loss, and/or ventriculomegaly. Six of the patients had epilepsy. Four of 8 males had genitourinary anomalies, including 3 with undescended tests and 1 with bifid scrotum and duplicated collecting system. Eleven of the patients had gastrointestinal abnormalities including recurrent constipation and cyclical vomiting. Cutaneous mastocytosis was seen in 3 patients. One patient had a ventricular septal defect and one had a duplicated superior vena cava. </p><p>Szczaluba et al. (2018) reported a patient who had severely delayed gross and fine motor skills within the first year of life. A neurologic assessment revealed muscular hypotonia and upper limb choreoathetosis. Features of cutaneous mastocytosis presented at the end of the first year of life, and urticaria pigmentosa was confirmed by skin biopsy. At age 4 years, she had global developmental delay and generalized hypotonia. She also had bilateral severe vesicoureteral reflux resulting in unilateral nephrectomy. </p>
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<strong>Molecular Genetics</strong>
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<p>In 13 unrelated patients with MRD42, Petrovski et al. (2016) identified 9 different de novo heterozygous missense mutations in the GNB1 gene (see, e.g., 139380.0001-139380.0005). The mutations were identified by exome sequencing and confirmed by Sanger sequencing. The patients were ascertained from a cohort of 5,855 individuals with a presumed genetic disorder of unknown cause. Functional studies and studies of patient cells were not performed by Petrovski et al. (2016). However, Petrovski et al. (2016) noted that Yoda et al. (2015) had identified somatic mutations in the GNB1 gene that were associated with hematologic transformation. Functional studies of 3 of the mutations (D76G, 139380.0001; I80T, 139380.0002; I80N, 139380.0003) that were also identified as germline mutations in the patients reported by Petrovski et al. (2016) had reduced binding to almost all G-alpha subunits and/or conferred cytokine-independent growth and activation of canonical G protein downstream signaling through disruption of the G-alpha/G-beta/G-gamma interaction interface. The mutations resulted in activation of the PI3K-AKT-mTOR and MAPK pathways, consistent with a gain of function. </p><p>In 16 patients with MRD42, Lohmann et al. (2017) identified 14 mutations in the GNB1 gene, including 2 frameshift mutations (139380.0007 and 139380.0008), 2 splicing mutations (139380.0006 and 139380.0009), and 10 missense mutations (see, e.g., 139380.0010). The mutations were identified by whole-exome sequencing and confirmed by Sanger sequencing; 1 mutation was inherited from a parent, 10 were de novo, and the inheritance of 3 mutations could not be determined due to lack of parental samples. Using a cell-based bioluminescence resonance energy transfer (BRET) assay, Lohmann et al. (2017) demonstrated that 7 of the missense mutations resulted in deficits in receptor-driven G protein activation. </p><p>Hemati et al. (2018) reported 18 patients with MRD42 and de novo heterozygous mutations in the GNB1 gene. Twelve patients had heterozygosity for previously identified mutations, including 8 patients with I80T (139380.0002). One of the mutations (C114Y; 13980.0011) was identified in a somatic mosaic state. All of the mutations were found by trio whole-exome sequencing. </p><p>In a 4-year-old girl with MRD42 616973, Szczaluba et al. (2018) identified a de novo heterozygous missense mutation (G77V; 139380.0012) in the GNB1 gene. The mutation was found by trio whole-exome sequencing and confirmed by Sanger sequencing. </p>
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<p>Lansdon and Saunders (2021) noted that a genotype-phenotype correlation has been proposed between the most commonly mutated residue in the GNB1 gene, I80, and cutaneous mastocytosis, severe axial hypotonia or hypotonic quadriplegia, and dystonia. They reported that 4 of 5 patients with MRD42 and an L95P mutation in the GNB1 gene had cleft palate. Statistical analysis of patients with clefting versus those without who had L95P compared to all other GNB1 variants combined revealed an association with cleft palate (p = 0.00013). </p>
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<strong>REFERENCES</strong>
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Hemati, P., Revah-Politi, A., Bassan, H., Petrovski, S., Bilancia, C. G., Ramsey, K., Griffin, N. G., Bier, L., Cho, M. T., Rosello, M., Lynch, S. A., Colombo, S., and 42 others.
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<strong>Refining the phenotype associated with GNB1 mutations: clinical data on 18 newly identified patients and review of the literature.</strong>
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Am. J. Med. Genet. 176A: 2259-2275, 2018.
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[PubMed: 30194818]
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[Full Text: https://doi.org/10.1002/ajmg.a.40472]
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Lansdon, L. A., Saunders, C. J.
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<strong>Genotype-phenotype correlation in GNB1-related neurodevelopmental disorder: potential association of p.Leu95Pro with cleft palate.</strong>
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Am. J. Med. Genet. 185A: 1341-1343, 2021.
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[PubMed: 33427398]
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[Full Text: https://doi.org/10.1002/ajmg.a.62080]
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Lohmann, K., Masuho, I., Patil, D. N., Baumann, H., Hebert, E., Steinrucke, S., Trujillano, D., Skamangas, N. K., Dobricic, V., Huning, I., Gillessen-Kaesbach, G., Westenberger, A., Savic-Pavicevic, D., Munchau, A., Oprea, G., Klein, C., Rolfs, A., Martemyanov, K. A.
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<strong>Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.</strong>
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Hum. Molec. Genet. 26: 1078-1086, 2017.
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[PubMed: 28087732]
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[Full Text: https://doi.org/10.1093/hmg/ddx018]
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Petrovski, S., Kury, S., Myers, C. T., Anyane-Yeboa, K., Cogne, B., Bialer, M., Xia, F., Hemati, P., Riviello, J., Mehaffey, M., Besnard, T., Becraft, E., and 35 others.
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<strong>Germline de novo mutations in GNB1 cause severe neurodevelopmental disability, hypotonia, and seizures.</strong>
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Am. J. Hum. Genet. 98: 1001-1010, 2016.
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[PubMed: 27108799]
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[Full Text: https://doi.org/10.1016/j.ajhg.2016.03.011]
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Szczaluba, K., Biernacka, A., Szymanska, K., Gasperowicz, P., Kosinska, J., Rydzanicz, M., Ploski, R.
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<strong>Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: clinical report and literature review.</strong>
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Europ. J. Med. Genet. 61: 157-160, 2018.
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[PubMed: 29174093]
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[Full Text: https://doi.org/10.1016/j.ejmg.2017.11.010]
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Yoda, A., Adelmant, G., Tamburini, J., Chapuy, B., Shindoh, N., Yoda, Y., Weigert, O., Kopp, N., Wu, S.-C., Kim, S. S., Liu, H., Tivey, T., and 17 others.
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<strong>Mutations in G protein beta subunits promote transformation and kinase inhibitor resistance.</strong>
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Nature Med. 21: 71-75, 2015.
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[PubMed: 25485910]
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[Full Text: https://doi.org/10.1038/nm.3751]
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Hilary J. Vernon - updated : 11/02/2021
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carol : 03/17/2022<br>carol : 03/16/2022<br>carol : 11/03/2021<br>carol : 11/02/2021<br>carol : 06/17/2016<br>ckniffin : 6/14/2016
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