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Entry
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- #617493 - NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS; NEDIM
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- OMIM
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<p>
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<span class="h4">#617493</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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<a href="/clinicalSynopsis/617493"><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="#clinicalManagement">Clinical Management</a>
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<a href="#inheritance">Inheritance</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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<li role="presentation">
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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=NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS" 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="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
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<div id="mimEuroGentestFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=889&Typ=Pat" title="Early infantile developmental and epileptic encephalopathy" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Early infantile developmen… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=29564&Typ=Pat" title="GNAO1-related developmental delay-seizures-movement disorder spectrum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">GNAO1-related developmenta… </a></div>
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</div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK597155/" 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=617493[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="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
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<div id="mimOrphanetFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1934" title="Early infantile developmental and epileptic encephalopathy" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Early infantile developmen…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=592564" title="GNAO1-related developmental delay-seizures-movement disorder spectrum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">GNAO1-related developmenta…</a></div>
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</div>
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<span class="small">
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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:0112276" 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/617493" 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:0112276" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 1934, 592564<br />
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<strong>DO:</strong> 0112276<br />
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">ICD+</a>
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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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617493
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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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NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS; NEDIM
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</h3>
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</div>
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<div>
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<br />
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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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<tbody>
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<td>
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<span class="mim-font">
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<a href="/geneMap/16/450?start=-3&limit=10&highlight=450">
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16q13
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</a>
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<span class="mim-font">
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Neurodevelopmental disorder with involuntary movements
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<span class="mim-font">
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<a href="/entry/617493"> 617493 </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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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
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GNAO1
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<td>
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<span class="mim-font">
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<a href="/entry/139311"> 139311 </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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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/617493" 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="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/617493" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/617493" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<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">
|
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<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> HEAD & NECK </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> Head </em>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Microcephaly (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551563</a>, <a href="https://bioportal.bioontology.org/search?q=C0025958&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025958</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Microcephaly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Poor head control <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836038&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836038</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002421" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002421</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002421" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002421</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Orofacial dyskinesia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/49386006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">49386006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G24.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/333.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">333.82</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0152115&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152115</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002310" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002310</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002310" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002310</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
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|
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|
|
</div>
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|
|
|
</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Dysphagia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/288939007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">288939007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40739000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40739000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R13.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R13.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R13.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R13.10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/787.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/787.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011168&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011168</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002015</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002015</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
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|
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|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Delayed psychomotor development <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 /> -
|
|
Intellectual disability <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a> 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> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
|
|
Poor motor skills <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4479570&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4479570</a>]</span><br /> -
|
|
Poor or absent speech <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278212&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278212</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000750</a>]</span><br /> -
|
|
Inability to sit or stand <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4479571&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4479571</a>]</span><br /> -
|
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Abnormal involuntary movements <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R25.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R25.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R25" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R25</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/781.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">781.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0392702&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392702</a>]</span><br /> -
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Chorea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271700006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271700006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G25.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G25.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0008489&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008489</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002072" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002072</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002072" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002072</a>]</span><br /> -
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Athetosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/58593005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">58593005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44913001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44913001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004158&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004158</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002305" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002305</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002305" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002305</a>]</span><br /> -
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Dystonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15802004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15802004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G24.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G24" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013421&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013421</a>, <a href="https://bioportal.bioontology.org/search?q=C0393593&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0393593</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001332" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001332</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001332" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001332</a>]</span><br /> -
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Dyskinesia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/9748009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">9748009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G24.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G24" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013384&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013384</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100660" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100660</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100660" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100660</a>]</span><br /> -
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Hyperkinesia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44548000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44548000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3887506&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887506</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002487" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002487</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002487" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002487</a>]</span><br /> -
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Spasticity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/221360009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">221360009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397790002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397790002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026838&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026838</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001257</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001257</a>]</span><br /> -
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Stereotypic hand movements <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2678184&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2678184</a>]</span><br /> -
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Autonomic instability <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0262385&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0262385</a>]</span><br /> -
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Seizures (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
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Cerebral atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278849000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278849000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235946&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235946</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002059</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002059</a>]</span><br /> -
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Thin corpus callosum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5441562&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441562</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033725" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033725</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033725" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033725</a>]</span><br /> -
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Hypoplasia of the caudate nucleus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4479572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4479572</a>]</span><br /> -
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Enlarged ventricles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278923&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278923</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002119</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002119</a>]</span><br />
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</span>
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<div>
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<span class="h5 mim-font">
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<em> Behavioral Psychiatric Manifestations </em>
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</span>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Self-injurious behavior <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248062006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248062006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R45.88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R45.88</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085271&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085271</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100716</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100716</a>]</span><br />
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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 of involuntary movements occurs in early childhood<br /> -
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Exacerbations of choreoathetosis can be triggered by illness, stress, emotions, high temperature<br /> -
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Good response of abnormal movements to deep brain stimulation<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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<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, alpha-activating activity polypeptide O gene (GNAO1, <a href="/entry/139311#0005">139311.0005</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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<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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<p>A number sign (#) is used with this entry because of evidence that neurodevelopmental disorder with involuntary movements (NEDIM) is caused by heterozygous mutation in the GNAO1 gene (<a href="/entry/139311">139311</a>) on chromosome 16q13.</p><p>Heterozygous mutation in the GNAO1 gene can also cause developmental and epileptic encephalopathy-17 (DEE17; <a href="/entry/615473">615473</a>).</p>
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<br />
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<a id="description" class="mim-anchor"></a>
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</h4>
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<p>NEDIM is a neurodevelopmental and neurodegenerative disorder characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis. The abnormal movements can be severe, sometimes resulting in inability to sit, walk, speak, or eat. Hyperkinetic movements can be exacerbated by specific triggers, such as stress, illness, or high temperature. Some patients have brain abnormalities, such as cerebral atrophy or thin corpus callosum, and some patients may develop seizures (summary by <a href="#1" class="mim-tip-reference" title="Ananth, A. L., Robichaux-Viehoever, A., Kim, Y.-M., Hanson-Kahn, A., Cox, R., Enns, G. M., Strober, J., Willing, M., Schlaggar, B. L., Wu, Y. W., Bernstein, J. A. <strong>Clinical course of six children with GNAO1 mutations causing a severe and distinctive movement disorder.</strong> Pediat. Neurol. 59: 81-84, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27068059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27068059</a>] [<a href="https://doi.org/10.1016/j.pediatrneurol.2016.02.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27068059">Ananth et al., 2016</a> and <a href="#2" class="mim-tip-reference" title="Danti, F. R., Galosi, S., Romani, M., Montomoli, M., Carss, K. J., Raymond, F. L., Parrini, E., Bianchini, C., McShane, T., Dale, R. C., Mohammad, S. S., Shah, U., and 9 others. <strong>GNAO1 encephalopathy: broadening the phenotype and evaluating treatment and outcome.</strong> Neurol. Genet. 3: e143, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28357411/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28357411</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28357411[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/10.1212/NXG.0000000000000143" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28357411">Danti et al., 2017</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=27068059+28357411" 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="#3" class="mim-tip-reference" title="Kulkarni, N., Tang, S., Bhardwaj, R., Bernes, S., Grebe, T. A. <strong>Progressive movement disorder in brothers carrying a GNAO1 mutation responsive to deep brain stimulation.</strong> J. Child. Neurol. 31: 211-214, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26060304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26060304</a>] [<a href="https://doi.org/10.1177/0883073815587945" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26060304">Kulkarni et al. (2016)</a> reported 2 brothers, born of unrelated parents, with a severe and progressive neurodevelopmental disorder characterized by markedly abnormal involuntary movements. One presented at 18 months of age with hypotonia, motor delay, and increased serum creatine kinase. He developed repeated exacerbations of choreoathetoid movements that were refractory to medication and became debilitating, necessitating multiple hospitalizations and placement of a feeding tube. His brother presented with similar features around 2 years of age. EEG in both boys showed diffuse slowing, but no epileptiform activity, and both had normal brain imaging. Surgical placement of deep brain stimulation electrodes significantly reduced the abnormal movements in both patients. In comparison to the DEE17 phenotype, <a href="#3" class="mim-tip-reference" title="Kulkarni, N., Tang, S., Bhardwaj, R., Bernes, S., Grebe, T. A. <strong>Progressive movement disorder in brothers carrying a GNAO1 mutation responsive to deep brain stimulation.</strong> J. Child. Neurol. 31: 211-214, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26060304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26060304</a>] [<a href="https://doi.org/10.1177/0883073815587945" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26060304">Kulkarni et al. (2016)</a> noted that these boys did not have seizures, but did have a similar movement disorder as some patients with DEE17, thus expanding the neurologic phenotype associated with GNAO1 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26060304" 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="Saitsu, H., Fukai, R., Ben-Zeev, B., Sakai, Y., Mimaki, M., Okamoto, N., Suzuki, Y., Monden, Y., Saito, H., Tziperman, B., Torio, M., Akamine, S., and 10 others. <strong>Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.</strong> Europ. J. Hum. Genet. 24: 129-134, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25966631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25966631</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25966631[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/ejhg.2015.92" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25966631">Saitsu et al. (2016)</a> reported 2 unrelated teenaged girls with NEDIM. They presented in infancy with global developmental delay and hypotonia, and developed severe involuntary movements in early childhood, including dystonia, athetosis, and chorea. One patient developed status dystonicus that was refractory to treatment. Her condition progressed, and she became bedridden with a tracheostomy and enterostomy. Her brain imaging was normal. The other patient also had a progressive movement disorder, often exacerbated by febrile illness. She developed complex partial seizures at 10 years of age. Brain imaging in this patient showed progressive cerebral and cerebellar atrophy, brainstem atrophy, and thin corpus callosum. The patients were severely disabled, with little or no eye contact or head control and inability to sit, walk, or talk. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25966631" 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="Ananth, A. L., Robichaux-Viehoever, A., Kim, Y.-M., Hanson-Kahn, A., Cox, R., Enns, G. M., Strober, J., Willing, M., Schlaggar, B. L., Wu, Y. W., Bernstein, J. A. <strong>Clinical course of six children with GNAO1 mutations causing a severe and distinctive movement disorder.</strong> Pediat. Neurol. 59: 81-84, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27068059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27068059</a>] [<a href="https://doi.org/10.1016/j.pediatrneurol.2016.02.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27068059">Ananth et al. (2016)</a> reported 6 patients, including a pair of dizygotic twins, with global developmental delay and hypotonia since infancy, but without seizures. Five patients developed severe abnormal involuntary movements, such as chorea and ballismus, by age 4 years, and the sixth by age 14 years. The patients developed quadriplegia: 2 patients never achieved motor skills and only 1 had limited ambulation with a walker at age 15 years. None of the patients had expressive speech, most had limited purposeful movements, and most required a feeding tube. Four patients had multiple admissions to the intensive care unit for their chorea, which was sometimes triggered by excitement or stress, and 2 patients died of complications during hospitalization. The least affected patient presented in infancy with hypotonia, developmental delay, and mild dyskinesia. In childhood, he was able to stand, ambulate with a walker, and participate in school, but still required assistance with all activities of daily living. He developed chorea at age 14 years, after which he showed severe motor regression and loss of many functions. Brain imaging in these patients was normal in infancy and early childhood, but some patients developed progressive abnormalities, mainly global atrophy and abnormal signals in the globus pallidus. During exacerbations, some patients showed prominent autonomic features, such as tachycardia, hyperthermia, hypertension, or diaphoresis. <a href="#1" class="mim-tip-reference" title="Ananth, A. L., Robichaux-Viehoever, A., Kim, Y.-M., Hanson-Kahn, A., Cox, R., Enns, G. M., Strober, J., Willing, M., Schlaggar, B. L., Wu, Y. W., Bernstein, J. A. <strong>Clinical course of six children with GNAO1 mutations causing a severe and distinctive movement disorder.</strong> Pediat. Neurol. 59: 81-84, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27068059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27068059</a>] [<a href="https://doi.org/10.1016/j.pediatrneurol.2016.02.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27068059">Ananth et al. (2016)</a> noted that the severe exacerbations of the movement disorder can be refractory to treatment and be life-threatening, but that aggressive treatment with anesthetic drips may prevent secondary complications. Some patients had some response of the baseline chorea to tetrabenazine. None of the patients had seizures, indicating that GNAO1 mutations can cause severe neurologic signs and encephalopathy in the absence of epilepsy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27068059" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Menke, L. A., Engelen, M., Alders, M., Odekerken, V. J. J., Baas, F., Cobben, J. M. <strong>Recurrent GNAO1 mutations associated with developmental delay and a movement disorder.</strong> J. Child Neurol. 31: 1598-1601, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27625011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27625011</a>] [<a href="https://doi.org/10.1177/0883073816666474" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27625011">Menke et al. (2016)</a> reported 2 unrelated boys with NEDIM. Hypotonia and delayed motor development was apparent in the first year of life. Neither was able to sit unsupported, and both had onset of involuntary movements, interpreted as mobile dystonia with myoclonic jerks, around 1.5 to 3 years of age. Verbal abilities were delayed or absent. EEG and brain imaging showed no abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27625011" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Danti, F. R., Galosi, S., Romani, M., Montomoli, M., Carss, K. J., Raymond, F. L., Parrini, E., Bianchini, C., McShane, T., Dale, R. C., Mohammad, S. S., Shah, U., and 9 others. <strong>GNAO1 encephalopathy: broadening the phenotype and evaluating treatment and outcome.</strong> Neurol. Genet. 3: e143, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28357411/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28357411</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28357411[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/10.1212/NXG.0000000000000143" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28357411">Danti et al. (2017)</a> reported 6 unrelated patients with NEDIM confirmed by genetic analysis. The patients had a wide range of clinical symptoms ranging from severe motor and cognitive impairment with marked choreoathetosis, dystonia, and self-injurious behavior to a milder phenotype with moderate developmental delay associated with complex stereotypies, mainly facial dyskinesia and mild epilepsy. The onset of abnormal hyperkinetic movements ranged from 4 months to 9 years of age (median 2 years). Three patients had hypotonia in infancy. The severity of the movement disorder varied, with the most severely affected patient developing continuous generalized choreoathetosis and facial dyskinesia that progressed to status dystonicus requiring intensive care with sedation, ventilation, tracheostomy, and gastrostomy. This patient had increased serum creatine kinase and renal failure, leading to multisystemic deterioration and death at age 4 years. Among the patients, hyperkinetic movements were often exacerbated by specific triggers, such as voluntary movement, intercurrent illnesses, emotion, and high ambient temperature, leading to hospital admissions. Most patients were resistant to drug intervention. Five patients had well-controlled epilepsy; a seventh reported patient had a more severe phenotype consistent with DEE17. Structural brain abnormalities, including mild cerebral atrophy and corpus callosum dysgenesis, were evident in 5 patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28357411" 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="#3" class="mim-tip-reference" title="Kulkarni, N., Tang, S., Bhardwaj, R., Bernes, S., Grebe, T. A. <strong>Progressive movement disorder in brothers carrying a GNAO1 mutation responsive to deep brain stimulation.</strong> J. Child. Neurol. 31: 211-214, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26060304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26060304</a>] [<a href="https://doi.org/10.1177/0883073815587945" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26060304">Kulkarni et al. (2016)</a> found that surgical placement of deep brain stimulation electrodes significantly reduced the abnormal movements in 2 brothers with NEDIM. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26060304" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Sakamoto, S., Monden, Y., Fukai, R., Miyake, N., Saito, H., Miyauchi, A., Matsumoto, A., Nagashima, M., Osaka, H., Matsumoto, N., Yamagata, T. <strong>A case of severe movement disorder with GNAO1 mutation responsive to topiramate.</strong> Brain Dev. 39: 439-443, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27916449/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27916449</a>] [<a href="https://doi.org/10.1016/j.braindev.2016.11.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27916449">Sakamoto et al. (2017)</a> reported follow-up of a 19-year-old woman with NEDIM associated with a GNAO1 mutation (R209C; <a href="/entry/139311#0007">139311.0007</a>); the patient had previously been reported by <a href="#5" class="mim-tip-reference" title="Saitsu, H., Fukai, R., Ben-Zeev, B., Sakai, Y., Mimaki, M., Okamoto, N., Suzuki, Y., Monden, Y., Saito, H., Tziperman, B., Torio, M., Akamine, S., and 10 others. <strong>Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.</strong> Europ. J. Hum. Genet. 24: 129-134, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25966631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25966631</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25966631[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/ejhg.2015.92" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25966631">Saitsu et al. (2016)</a>. She had progressive severe chorea that had been resistant to antiepileptics. Treatment with topiramate resulted in a significant improvement in the frequency and severity of chorea. The authors suggested that the efficacy of topiramate may have been related to the inhibitory modulation of voltage-activated calcium channels. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=27916449+25966631" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Danti, F. R., Galosi, S., Romani, M., Montomoli, M., Carss, K. J., Raymond, F. L., Parrini, E., Bianchini, C., McShane, T., Dale, R. C., Mohammad, S. S., Shah, U., and 9 others. <strong>GNAO1 encephalopathy: broadening the phenotype and evaluating treatment and outcome.</strong> Neurol. Genet. 3: e143, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28357411/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28357411</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28357411[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/10.1212/NXG.0000000000000143" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28357411">Danti et al. (2017)</a> noted that most of their 7 patients with severe abnormal involuntary movements were resistant to drug intervention, although tetrabenazine was effective in partially controlling dyskinesia for 2 of 7 patients. Emergency deep brain stimulation was life saving in 1 patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28357411" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The heterozygous mutations in the GNAO1 gene that were identified in patients with NEDIM by <a href="#3" class="mim-tip-reference" title="Kulkarni, N., Tang, S., Bhardwaj, R., Bernes, S., Grebe, T. A. <strong>Progressive movement disorder in brothers carrying a GNAO1 mutation responsive to deep brain stimulation.</strong> J. Child. Neurol. 31: 211-214, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26060304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26060304</a>] [<a href="https://doi.org/10.1177/0883073815587945" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26060304">Kulkarni et al. (2016)</a> and <a href="#5" class="mim-tip-reference" title="Saitsu, H., Fukai, R., Ben-Zeev, B., Sakai, Y., Mimaki, M., Okamoto, N., Suzuki, Y., Monden, Y., Saito, H., Tziperman, B., Torio, M., Akamine, S., and 10 others. <strong>Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.</strong> Europ. J. Hum. Genet. 24: 129-134, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25966631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25966631</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25966631[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/ejhg.2015.92" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25966631">Saitsu et al. (2016)</a> occurred de novo. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=25966631+26060304" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 2 brothers with NEDIM, <a href="#3" class="mim-tip-reference" title="Kulkarni, N., Tang, S., Bhardwaj, R., Bernes, S., Grebe, T. A. <strong>Progressive movement disorder in brothers carrying a GNAO1 mutation responsive to deep brain stimulation.</strong> J. Child. Neurol. 31: 211-214, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26060304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26060304</a>] [<a href="https://doi.org/10.1177/0883073815587945" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26060304">Kulkarni et al. (2016)</a> identified a de novo heterozygous missense mutation in the GNAO1 gene (R209H; <a href="/entry/139311#0005">139311.0005</a>). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in either parent, suggesting germline mosaicism in one of them. Functional studies of the variant were not performed, but it was predicted to disrupt GNAO1 signaling. Using exome sequencing, <a href="#4" class="mim-tip-reference" title="Menke, L. A., Engelen, M., Alders, M., Odekerken, V. J. J., Baas, F., Cobben, J. M. <strong>Recurrent GNAO1 mutations associated with developmental delay and a movement disorder.</strong> J. Child Neurol. 31: 1598-1601, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27625011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27625011</a>] [<a href="https://doi.org/10.1177/0883073816666474" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27625011">Menke et al. (2016)</a> identified a de novo heterozygous R209H mutation in a 3-year-old boy with NEDIM. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=26060304+27625011" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 unrelated patients with NEDIM, <a href="#5" class="mim-tip-reference" title="Saitsu, H., Fukai, R., Ben-Zeev, B., Sakai, Y., Mimaki, M., Okamoto, N., Suzuki, Y., Monden, Y., Saito, H., Tziperman, B., Torio, M., Akamine, S., and 10 others. <strong>Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.</strong> Europ. J. Hum. Genet. 24: 129-134, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25966631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25966631</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25966631[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/ejhg.2015.92" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25966631">Saitsu et al. (2016)</a> identified 2 different de novo heterozygous missense mutations in the GNAO1 gene (R209C, <a href="/entry/139311#0006">139311.0006</a> and E246K, <a href="/entry/139311#0007">139311.0007</a>). The mutations were found by whole-exome sequencing and confirmed by Sanger sequencing. Functional studies of the variants and studies of patient cells were not performed, but molecular modeling predicted that they would result in adverse effects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25966631" 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 6 patients, including 2 sibs, with NEDIM, <a href="#1" class="mim-tip-reference" title="Ananth, A. L., Robichaux-Viehoever, A., Kim, Y.-M., Hanson-Kahn, A., Cox, R., Enns, G. M., Strober, J., Willing, M., Schlaggar, B. L., Wu, Y. W., Bernstein, J. A. <strong>Clinical course of six children with GNAO1 mutations causing a severe and distinctive movement disorder.</strong> Pediat. Neurol. 59: 81-84, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27068059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27068059</a>] [<a href="https://doi.org/10.1016/j.pediatrneurol.2016.02.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27068059">Ananth et al. (2016)</a> identified de novo heterozygous missense mutations in the GNAO1 gene: E246K was found in 4 patients, R209H was found in 1 patient, and R209G (<a href="/entry/139311#0008">139311.0008</a>) was found in 1 patient. The mutations were found by whole-exome sequencing; functional studies of the variants and studies of patient cells were not performed. None of the patients had seizures, suggesting that these mutations may be specific to the movement disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27068059" 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 6 patients with NEDIM, <a href="#2" class="mim-tip-reference" title="Danti, F. R., Galosi, S., Romani, M., Montomoli, M., Carss, K. J., Raymond, F. L., Parrini, E., Bianchini, C., McShane, T., Dale, R. C., Mohammad, S. S., Shah, U., and 9 others. <strong>GNAO1 encephalopathy: broadening the phenotype and evaluating treatment and outcome.</strong> Neurol. Genet. 3: e143, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28357411/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28357411</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28357411[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/10.1212/NXG.0000000000000143" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28357411">Danti et al. (2017)</a> identified de novo heterozygous mutations in the GNAO1 gene (see, e.g., R209C, <a href="/entry/139311#0006">139311.0006</a> and E246G, <a href="/entry/139311#0009">139311.0009</a>). Functional studies of the variants and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28357411" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 2 unrelated boys with NEDIM, <a href="#4" class="mim-tip-reference" title="Menke, L. A., Engelen, M., Alders, M., Odekerken, V. J. J., Baas, F., Cobben, J. M. <strong>Recurrent GNAO1 mutations associated with developmental delay and a movement disorder.</strong> J. Child Neurol. 31: 1598-1601, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27625011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27625011</a>] [<a href="https://doi.org/10.1177/0883073816666474" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27625011">Menke et al. (2016)</a> identified de novo heterozygous missense mutations affecting codon 209 in the GNAO1 gene (R209H, <a href="/entry/139311#0010">139311.0010</a> and R209L). In a review of 26 published patients with GNAO1 mutations, <a href="#4" class="mim-tip-reference" title="Menke, L. A., Engelen, M., Alders, M., Odekerken, V. J. J., Baas, F., Cobben, J. M. <strong>Recurrent GNAO1 mutations associated with developmental delay and a movement disorder.</strong> J. Child Neurol. 31: 1598-1601, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27625011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27625011</a>] [<a href="https://doi.org/10.1177/0883073816666474" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27625011">Menke et al. (2016)</a> found that those with mutations affecting codon 209 (e.g., R209C, R209H, R209G) or 246 (E246K; <a href="/entry/139311#0008">139311.0008</a>) had developmental delay with a hyperkinetic movement disorder but without seizures. These mutations were recurrent de novo mutations, probably related to both being part of CpG dinucleotides, which are vulnerable to spontaneous deamination. In contrast, patients with mutations affecting other residues had the more severe phenotype of DEE17. <a href="#4" class="mim-tip-reference" title="Menke, L. A., Engelen, M., Alders, M., Odekerken, V. J. J., Baas, F., Cobben, J. M. <strong>Recurrent GNAO1 mutations associated with developmental delay and a movement disorder.</strong> J. Child Neurol. 31: 1598-1601, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27625011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27625011</a>] [<a href="https://doi.org/10.1177/0883073816666474" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27625011">Menke et al. (2016)</a> noted that affected sib pairs with the same de novo mutation had been reported, and they estimated a recurrence risk of 5 to 15% after 1 affected child with GNAO1 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27625011" 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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Ananth, A. L., Robichaux-Viehoever, A., Kim, Y.-M., Hanson-Kahn, A., Cox, R., Enns, G. M., Strober, J., Willing, M., Schlaggar, B. L., Wu, Y. W., Bernstein, J. A.
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<strong>Clinical course of six children with GNAO1 mutations causing a severe and distinctive movement disorder.</strong>
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Pediat. Neurol. 59: 81-84, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27068059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27068059</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27068059" 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.pediatrneurol.2016.02.018" target="_blank">Full Text</a>]
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Danti, F. R., Galosi, S., Romani, M., Montomoli, M., Carss, K. J., Raymond, F. L., Parrini, E., Bianchini, C., McShane, T., Dale, R. C., Mohammad, S. S., Shah, U., and 9 others.
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<strong>GNAO1 encephalopathy: broadening the phenotype and evaluating treatment and outcome.</strong>
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Neurol. Genet. 3: e143, 2017. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28357411/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28357411</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28357411[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=28357411" 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/10.1212/NXG.0000000000000143" target="_blank">Full Text</a>]
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Kulkarni, N., Tang, S., Bhardwaj, R., Bernes, S., Grebe, T. A.
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<strong>Progressive movement disorder in brothers carrying a GNAO1 mutation responsive to deep brain stimulation.</strong>
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J. Child. Neurol. 31: 211-214, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26060304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26060304</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26060304" 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/10.1177/0883073815587945" target="_blank">Full Text</a>]
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Menke, L. A., Engelen, M., Alders, M., Odekerken, V. J. J., Baas, F., Cobben, J. M.
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<strong>Recurrent GNAO1 mutations associated with developmental delay and a movement disorder.</strong>
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J. Child Neurol. 31: 1598-1601, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27625011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27625011</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27625011" 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/10.1177/0883073816666474" target="_blank">Full Text</a>]
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Saitsu, H., Fukai, R., Ben-Zeev, B., Sakai, Y., Mimaki, M., Okamoto, N., Suzuki, Y., Monden, Y., Saito, H., Tziperman, B., Torio, M., Akamine, S., and 10 others.
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<strong>Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.</strong>
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Europ. J. Hum. Genet. 24: 129-134, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25966631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25966631</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25966631[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=25966631" 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/ejhg.2015.92" target="_blank">Full Text</a>]
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Sakamoto, S., Monden, Y., Fukai, R., Miyake, N., Saito, H., Miyauchi, A., Matsumoto, A., Nagashima, M., Osaka, H., Matsumoto, N., Yamagata, T.
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<strong>A case of severe movement disorder with GNAO1 mutation responsive to topiramate.</strong>
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Brain Dev. 39: 439-443, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27916449/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27916449</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27916449" 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.braindev.2016.11.009" target="_blank">Full Text</a>]
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carol : 09/07/2023
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carol : 12/04/2020<br>carol : 11/17/2017<br>carol : 06/02/2017<br>ckniffin : 05/31/2017
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<strong>#</strong> 617493
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NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS; NEDIM
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<strong>ORPHA:</strong> 1934, 592564;
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<strong>DO:</strong> 0112276;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus <br /> MIM number
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16q13
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Neurodevelopmental disorder with involuntary movements
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617493
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Autosomal dominant
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3
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GNAO1
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139311
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<p>A number sign (#) is used with this entry because of evidence that neurodevelopmental disorder with involuntary movements (NEDIM) is caused by heterozygous mutation in the GNAO1 gene (139311) on chromosome 16q13.</p><p>Heterozygous mutation in the GNAO1 gene can also cause developmental and epileptic encephalopathy-17 (DEE17; 615473).</p>
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<strong>Description</strong>
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<p>NEDIM is a neurodevelopmental and neurodegenerative disorder characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis. The abnormal movements can be severe, sometimes resulting in inability to sit, walk, speak, or eat. Hyperkinetic movements can be exacerbated by specific triggers, such as stress, illness, or high temperature. Some patients have brain abnormalities, such as cerebral atrophy or thin corpus callosum, and some patients may develop seizures (summary by Ananth et al., 2016 and Danti et al., 2017). </p>
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<strong>Clinical Features</strong>
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<p>Kulkarni et al. (2016) reported 2 brothers, born of unrelated parents, with a severe and progressive neurodevelopmental disorder characterized by markedly abnormal involuntary movements. One presented at 18 months of age with hypotonia, motor delay, and increased serum creatine kinase. He developed repeated exacerbations of choreoathetoid movements that were refractory to medication and became debilitating, necessitating multiple hospitalizations and placement of a feeding tube. His brother presented with similar features around 2 years of age. EEG in both boys showed diffuse slowing, but no epileptiform activity, and both had normal brain imaging. Surgical placement of deep brain stimulation electrodes significantly reduced the abnormal movements in both patients. In comparison to the DEE17 phenotype, Kulkarni et al. (2016) noted that these boys did not have seizures, but did have a similar movement disorder as some patients with DEE17, thus expanding the neurologic phenotype associated with GNAO1 mutations. </p><p>Saitsu et al. (2016) reported 2 unrelated teenaged girls with NEDIM. They presented in infancy with global developmental delay and hypotonia, and developed severe involuntary movements in early childhood, including dystonia, athetosis, and chorea. One patient developed status dystonicus that was refractory to treatment. Her condition progressed, and she became bedridden with a tracheostomy and enterostomy. Her brain imaging was normal. The other patient also had a progressive movement disorder, often exacerbated by febrile illness. She developed complex partial seizures at 10 years of age. Brain imaging in this patient showed progressive cerebral and cerebellar atrophy, brainstem atrophy, and thin corpus callosum. The patients were severely disabled, with little or no eye contact or head control and inability to sit, walk, or talk. </p><p>Ananth et al. (2016) reported 6 patients, including a pair of dizygotic twins, with global developmental delay and hypotonia since infancy, but without seizures. Five patients developed severe abnormal involuntary movements, such as chorea and ballismus, by age 4 years, and the sixth by age 14 years. The patients developed quadriplegia: 2 patients never achieved motor skills and only 1 had limited ambulation with a walker at age 15 years. None of the patients had expressive speech, most had limited purposeful movements, and most required a feeding tube. Four patients had multiple admissions to the intensive care unit for their chorea, which was sometimes triggered by excitement or stress, and 2 patients died of complications during hospitalization. The least affected patient presented in infancy with hypotonia, developmental delay, and mild dyskinesia. In childhood, he was able to stand, ambulate with a walker, and participate in school, but still required assistance with all activities of daily living. He developed chorea at age 14 years, after which he showed severe motor regression and loss of many functions. Brain imaging in these patients was normal in infancy and early childhood, but some patients developed progressive abnormalities, mainly global atrophy and abnormal signals in the globus pallidus. During exacerbations, some patients showed prominent autonomic features, such as tachycardia, hyperthermia, hypertension, or diaphoresis. Ananth et al. (2016) noted that the severe exacerbations of the movement disorder can be refractory to treatment and be life-threatening, but that aggressive treatment with anesthetic drips may prevent secondary complications. Some patients had some response of the baseline chorea to tetrabenazine. None of the patients had seizures, indicating that GNAO1 mutations can cause severe neurologic signs and encephalopathy in the absence of epilepsy. </p><p>Menke et al. (2016) reported 2 unrelated boys with NEDIM. Hypotonia and delayed motor development was apparent in the first year of life. Neither was able to sit unsupported, and both had onset of involuntary movements, interpreted as mobile dystonia with myoclonic jerks, around 1.5 to 3 years of age. Verbal abilities were delayed or absent. EEG and brain imaging showed no abnormalities. </p><p>Danti et al. (2017) reported 6 unrelated patients with NEDIM confirmed by genetic analysis. The patients had a wide range of clinical symptoms ranging from severe motor and cognitive impairment with marked choreoathetosis, dystonia, and self-injurious behavior to a milder phenotype with moderate developmental delay associated with complex stereotypies, mainly facial dyskinesia and mild epilepsy. The onset of abnormal hyperkinetic movements ranged from 4 months to 9 years of age (median 2 years). Three patients had hypotonia in infancy. The severity of the movement disorder varied, with the most severely affected patient developing continuous generalized choreoathetosis and facial dyskinesia that progressed to status dystonicus requiring intensive care with sedation, ventilation, tracheostomy, and gastrostomy. This patient had increased serum creatine kinase and renal failure, leading to multisystemic deterioration and death at age 4 years. Among the patients, hyperkinetic movements were often exacerbated by specific triggers, such as voluntary movement, intercurrent illnesses, emotion, and high ambient temperature, leading to hospital admissions. Most patients were resistant to drug intervention. Five patients had well-controlled epilepsy; a seventh reported patient had a more severe phenotype consistent with DEE17. Structural brain abnormalities, including mild cerebral atrophy and corpus callosum dysgenesis, were evident in 5 patients. </p>
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<strong>Clinical Management</strong>
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<p>Kulkarni et al. (2016) found that surgical placement of deep brain stimulation electrodes significantly reduced the abnormal movements in 2 brothers with NEDIM. </p><p>Sakamoto et al. (2017) reported follow-up of a 19-year-old woman with NEDIM associated with a GNAO1 mutation (R209C; 139311.0007); the patient had previously been reported by Saitsu et al. (2016). She had progressive severe chorea that had been resistant to antiepileptics. Treatment with topiramate resulted in a significant improvement in the frequency and severity of chorea. The authors suggested that the efficacy of topiramate may have been related to the inhibitory modulation of voltage-activated calcium channels. </p><p>Danti et al. (2017) noted that most of their 7 patients with severe abnormal involuntary movements were resistant to drug intervention, although tetrabenazine was effective in partially controlling dyskinesia for 2 of 7 patients. Emergency deep brain stimulation was life saving in 1 patient. </p>
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<strong>Inheritance</strong>
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<p>The heterozygous mutations in the GNAO1 gene that were identified in patients with NEDIM by Kulkarni et al. (2016) and Saitsu et al. (2016) occurred de novo. </p>
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<strong>Molecular Genetics</strong>
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<p>In 2 brothers with NEDIM, Kulkarni et al. (2016) identified a de novo heterozygous missense mutation in the GNAO1 gene (R209H; 139311.0005). The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in either parent, suggesting germline mosaicism in one of them. Functional studies of the variant were not performed, but it was predicted to disrupt GNAO1 signaling. Using exome sequencing, Menke et al. (2016) identified a de novo heterozygous R209H mutation in a 3-year-old boy with NEDIM. Functional studies of the variant were not performed. </p><p>In 2 unrelated patients with NEDIM, Saitsu et al. (2016) identified 2 different de novo heterozygous missense mutations in the GNAO1 gene (R209C, 139311.0006 and E246K, 139311.0007). The mutations were found by whole-exome sequencing and confirmed by Sanger sequencing. Functional studies of the variants and studies of patient cells were not performed, but molecular modeling predicted that they would result in adverse effects. </p><p>In 6 patients, including 2 sibs, with NEDIM, Ananth et al. (2016) identified de novo heterozygous missense mutations in the GNAO1 gene: E246K was found in 4 patients, R209H was found in 1 patient, and R209G (139311.0008) was found in 1 patient. The mutations were found by whole-exome sequencing; functional studies of the variants and studies of patient cells were not performed. None of the patients had seizures, suggesting that these mutations may be specific to the movement disorder. </p><p>In 6 patients with NEDIM, Danti et al. (2017) identified de novo heterozygous mutations in the GNAO1 gene (see, e.g., R209C, 139311.0006 and E246G, 139311.0009). Functional studies of the variants and studies of patient cells were not performed. </p>
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<strong>Genotype/Phenotype Correlations</strong>
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<p>In 2 unrelated boys with NEDIM, Menke et al. (2016) identified de novo heterozygous missense mutations affecting codon 209 in the GNAO1 gene (R209H, 139311.0010 and R209L). In a review of 26 published patients with GNAO1 mutations, Menke et al. (2016) found that those with mutations affecting codon 209 (e.g., R209C, R209H, R209G) or 246 (E246K; 139311.0008) had developmental delay with a hyperkinetic movement disorder but without seizures. These mutations were recurrent de novo mutations, probably related to both being part of CpG dinucleotides, which are vulnerable to spontaneous deamination. In contrast, patients with mutations affecting other residues had the more severe phenotype of DEE17. Menke et al. (2016) noted that affected sib pairs with the same de novo mutation had been reported, and they estimated a recurrence risk of 5 to 15% after 1 affected child with GNAO1 mutations. </p>
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<strong>REFERENCES</strong>
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Ananth, A. L., Robichaux-Viehoever, A., Kim, Y.-M., Hanson-Kahn, A., Cox, R., Enns, G. M., Strober, J., Willing, M., Schlaggar, B. L., Wu, Y. W., Bernstein, J. A.
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<strong>Clinical course of six children with GNAO1 mutations causing a severe and distinctive movement disorder.</strong>
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Pediat. Neurol. 59: 81-84, 2016.
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[PubMed: 27068059]
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[Full Text: https://doi.org/10.1016/j.pediatrneurol.2016.02.018]
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Danti, F. R., Galosi, S., Romani, M., Montomoli, M., Carss, K. J., Raymond, F. L., Parrini, E., Bianchini, C., McShane, T., Dale, R. C., Mohammad, S. S., Shah, U., and 9 others.
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<strong>GNAO1 encephalopathy: broadening the phenotype and evaluating treatment and outcome.</strong>
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Neurol. Genet. 3: e143, 2017. Note: Electronic Article.
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[PubMed: 28357411]
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[Full Text: https://doi.org/10.1212/NXG.0000000000000143]
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Kulkarni, N., Tang, S., Bhardwaj, R., Bernes, S., Grebe, T. A.
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<strong>Progressive movement disorder in brothers carrying a GNAO1 mutation responsive to deep brain stimulation.</strong>
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J. Child. Neurol. 31: 211-214, 2016.
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[PubMed: 26060304]
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[Full Text: https://doi.org/10.1177/0883073815587945]
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Menke, L. A., Engelen, M., Alders, M., Odekerken, V. J. J., Baas, F., Cobben, J. M.
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<strong>Recurrent GNAO1 mutations associated with developmental delay and a movement disorder.</strong>
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J. Child Neurol. 31: 1598-1601, 2016.
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[PubMed: 27625011]
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[Full Text: https://doi.org/10.1177/0883073816666474]
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Saitsu, H., Fukai, R., Ben-Zeev, B., Sakai, Y., Mimaki, M., Okamoto, N., Suzuki, Y., Monden, Y., Saito, H., Tziperman, B., Torio, M., Akamine, S., and 10 others.
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<strong>Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay.</strong>
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Europ. J. Hum. Genet. 24: 129-134, 2016.
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[PubMed: 25966631]
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[Full Text: https://doi.org/10.1038/ejhg.2015.92]
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Sakamoto, S., Monden, Y., Fukai, R., Miyake, N., Saito, H., Miyauchi, A., Matsumoto, A., Nagashima, M., Osaka, H., Matsumoto, N., Yamagata, T.
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<strong>A case of severe movement disorder with GNAO1 mutation responsive to topiramate.</strong>
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Brain Dev. 39: 439-443, 2017.
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[PubMed: 27916449]
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[Full Text: https://doi.org/10.1016/j.braindev.2016.11.009]
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Creation Date:
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Cassandra L. Kniffin : 05/30/2017
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Edit History:
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