2618 lines
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Entry
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- #606438 - HUNTINGTON DISEASE-LIKE 2; HDL2
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- OMIM
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<p>
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<span class="h4">#606438</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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<li role="presentation">
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/606438"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=HUNTINGTON DISEASE-LIKE" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=13951&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1529/" 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.diseaseinfosearch.org/x/8568" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=606438[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98934" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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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:0090104" 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/606438" 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:0090104" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 721228006<br />
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<strong>ORPHA:</strong> 98934<br />
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<strong>DO:</strong> 0090104<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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606438
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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HUNTINGTON DISEASE-LIKE 2; HDL2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/16/722?start=-3&limit=10&highlight=722">
|
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16q24.2
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</a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Huntington disease-like 2
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/606438"> 606438 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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JPH3
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/605268"> 605268 </a>
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</span>
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</td>
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</tr>
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</tbody>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/606438" 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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<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/606438" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/606438" 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">
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<strong> GROWTH </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Weight </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Weight loss <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/89362005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">89362005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/816160009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">816160009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/262285001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">262285001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/161832001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">161832001</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.21" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.21</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3540682&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3540682</a>, <a href="https://bioportal.bioontology.org/search?q=C5203233&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5203233</a>, <a href="https://bioportal.bioontology.org/search?q=C1262477&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1262477</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001824" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001824</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001824" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001824</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</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">
|
|
<em> Central Nervous System </em>
|
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</span>
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
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|
|
- 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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|
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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|
Rigidity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16046003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16046003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0700109&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700109</a>, <a href="https://bioportal.bioontology.org/search?q=C0026837&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026837</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002063" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002063</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002063" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002063</a>]</span><br /> -
|
|
Dysarthria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8011004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8011004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.13</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/784.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span><br /> -
|
|
Hyperreflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86854008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86854008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151889&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151889</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001347</a>]</span><br /> -
|
|
Bradykinesia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399317006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399317006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0233565&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0233565</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002067" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002067</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002067" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002067</a>]</span><br /> -
|
|
Dementia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52448006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52448006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12348006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12348006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F03.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F03.90</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F03</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/290.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">290.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/294.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">294.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">290</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011265&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011265</a>, <a href="https://bioportal.bioontology.org/search?q=C0497327&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0497327</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000726" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000726</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000726" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000726</a>]</span><br /> -
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|
Action tremor <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30721006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30721006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G25.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G25.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551520&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551520</a>, <a href="https://bioportal.bioontology.org/search?q=C0234376&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234376</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002345" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002345</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002080" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002080</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002345" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002345</a>]</span><br /> -
|
|
Striatal atrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847988&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847988</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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<span class="h5 mim-font">
|
|
<em> Behavioral Psychiatric Manifestations </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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- Depression <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/78667006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">78667006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35489007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35489007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/366979004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">366979004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/255339005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">255339005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F34.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F34.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F32.A" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F32.A</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F33.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F33.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0812393&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0812393</a>, <a href="https://bioportal.bioontology.org/search?q=C0011581&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011581</a>, <a href="https://bioportal.bioontology.org/search?q=C0460137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0460137</a>, <a href="https://bioportal.bioontology.org/search?q=C1579931&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1579931</a>, <a href="https://bioportal.bioontology.org/search?q=C0344315&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344315</a>, <a href="https://bioportal.bioontology.org/search?q=C4085311&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4085311</a>, <a href="https://bioportal.bioontology.org/search?q=C0011570&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011570</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000716</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000716" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000716</a>]</span><br /> -
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Anxiety <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48694002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48694002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197480006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197480006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F41.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F41.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003469&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003469</a>, <a href="https://bioportal.bioontology.org/search?q=C0003467&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003467</a>, <a href="https://bioportal.bioontology.org/search?q=C0860603&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0860603</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000739" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000739</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000739" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000739</a>]</span><br /> -
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Irritability <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/55929007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">55929007</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/799.22" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">799.22</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022107&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022107</a>, <a href="https://bioportal.bioontology.org/search?q=C2700617&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2700617</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000737" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000737</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000737" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000737</a>]</span><br /> -
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Apathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20602000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20602000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0436596&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0436596</a>, <a href="https://bioportal.bioontology.org/search?q=C0085632&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085632</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000741" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000741</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000741" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000741</a>]</span><br /> -
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Delusions <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/2073000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">2073000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011253&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011253</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000746" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000746</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000746" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000746</a>]</span><br /> -
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Hallucinations <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7011001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7011001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R44.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R44.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/780.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">780.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018524&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018524</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000738" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000738</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000738" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000738</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Mean age of onset 35-40 years<br /> -
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Normal alleles contain 6 to 28 repeats<br /> -
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Pathogenic alleles contain greater than 41 repeats<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by a trinucleotide repeat expansion CAG(n) in the junctophilin-3 gene (JPH3, <a href="/entry/605268#0001">605268.0001</a>)<br />
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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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<p>A number sign (#) is used with this entry because of evidence that Huntington disease-like-2 (HDL2) is caused by a heterozygous expanded CAG/CTG repeat in the junctophilin-3 gene (JPH3; <a href="/entry/605268">605268</a>) on chromosome 16q24.</p><p>Normal alleles contain 6 to 28 repeats, whereas pathogenic alleles contain over 41 repeats (<a href="#8" class="mim-tip-reference" title="Todd, P. K., Paulson, H. L. <strong>RNA-mediated neurodegeneration in repeat expansion disorders.</strong> Ann. Neurol. 67: 291-300, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20373340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20373340</a>] [<a href="https://doi.org/10.1002/ana.21948" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20373340">Todd and Paulson, 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20373340" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Clinical Features</strong>
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<p><a href="#3" class="mim-tip-reference" title="Margolis, R. L., O'Hearn, E., Rosenblatt, A., Willour, V., Holmes, S. E., Franz, M. L., Callahan, C., Hwang, H. S., Troncoso, J. C., Ross, C. A. <strong>A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion.</strong> Ann. Neurol. 50: 373-380, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11761463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11761463</a>] [<a href="https://doi.org/10.1002/ana.1312" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11761463">Margolis et al. (2001)</a> described a large kindred with an autosomal dominant disorder that is clinically similar to Huntington disease (<a href="/entry/143100">143100</a>) but arose from a CAG expansion in a different gene. The disorder is characterized by onset in the fourth decade, involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, dementia, and relentless course with death about 20 years after disease onset. Brain magnetic resonance imaging scans and an autopsy revealed marked striatal atrophy and moderate cortical atrophy, with striatal neurodegeneration in a dorsal-to-ventral gradient and occasional intranuclear inclusions. This family was of African American ethnicity, and the parents of the first known affected individual were from a semirural region of the southeastern United States. The disorder in this family, designated family W, fell well within the spectrum of HD. Other than a lower frequency of eye movement findings and the absence of seizures, the disease was similar to juvenile-onset HD (<a href="#9" class="mim-tip-reference" title="Van Dijk, J. G., Van der Velde, E. A., Roos, R. A. C., Bruyn, G. W. <strong>Juvenile Huntington disease.</strong> Hum. Genet. 73: 235-239, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2942452/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2942452</a>] [<a href="https://doi.org/10.1007/BF00401235" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2942452">van Dijk et al., 1986</a>) and the 'Westphal' variant of HD observed in some adult cases. Unlike the HDL1 (<a href="/entry/603218">603218</a>), seizures did not occur in affected members of pedigree W. However, in both pedigrees, rigidity was more prominent than chorea. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2942452+11761463" 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="#10" class="mim-tip-reference" title="Walker, R. H., Morgello, S., Davidoff-Feldman, B., Melnick, A., Walsh, M. J., Shashidharan, P., Brin, M. F. <strong>Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions.</strong> Neurology 58: 1031-1037, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11940688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11940688</a>] [<a href="https://doi.org/10.1212/wnl.58.7.1031" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11940688">Walker et al. (2002)</a> reported a family in which 3 individuals were affected with what the authors thought was an autosomal dominant form of chorea-acanthocytosis (<a href="/entry/200150">200150</a>), but which was later found by <a href="#11" class="mim-tip-reference" title="Walker, R. H., Rasmussen, A., Rudnicki, D., Holmes, S. E., Alonso, E., Matsuura, T., Ashizawa, T., Davidoff-Feldman, B., Margolis, R. L. <strong>Huntington's disease-like 2 can present as chorea-acanthocytosis.</strong> Neurology 61: 1002-1004, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14557581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14557581</a>] [<a href="https://doi.org/10.1212/01.wnl.0000085866.68470.6d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14557581">Walker et al. (2003)</a> to be HDL2. The proband was a 56-year-old man who had initially been diagnosed with Huntington disease. At age 34 years, he developed a slowly progressive deterioration in memory and personality, with involuntary movements of the face and hands. By age 54 years, he was unable to stand, had no spontaneous speech, and showed continuous choreiform movements. Postmortem examination of the brain showed severe, diffuse cortical atrophy and severe atrophy of the caudate and putamen, as well as ubiquitinated intranuclear inclusions with immunoreactivity for expanded polyglutamine repeats throughout the brain. His son, who had fragile X syndrome (<a href="/entry/300624">300624</a>), developed gait abnormalities, chorea, and dystonia in his late twenties. Head CT scan showed generalized cerebral and caudate atrophy. <a href="#10" class="mim-tip-reference" title="Walker, R. H., Morgello, S., Davidoff-Feldman, B., Melnick, A., Walsh, M. J., Shashidharan, P., Brin, M. F. <strong>Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions.</strong> Neurology 58: 1031-1037, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11940688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11940688</a>] [<a href="https://doi.org/10.1212/wnl.58.7.1031" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11940688">Walker et al. (2002)</a> suspected that the fragile X was unrelated to the neurologic disorder. The third patient, the nephew of the proband, developed personality changes, primitive reflexes, hyperreflexia, and mild parkinsonism beginning at age 28 years. All 3 patients had 30 to 35% acanthocytosis on peripheral blood smear. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14557581+11940688" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of Huntington disease-like-2 in the family reported by <a href="#1" class="mim-tip-reference" title="Holmes, S. E., O'Hearn, E., Rosenblatt, A., Callahan, C., Hwang, H. S., Ingersoll-Ashworth, R. G., Fleisher, A., Stevanin, G., Brice, A., Potter, N. T., Ross, C. A., Margolis, R. L. <strong>A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.</strong> Nature Genet. 29: 377-378, 2001. Note: Erratum: Nature Genet. 30: 123 only, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11694876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11694876</a>] [<a href="https://doi.org/10.1038/ng760" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11694876">Holmes et al. (2001)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11694876" 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="#5" class="mim-tip-reference" title="Rudnicki, D. D., Holmes, S. E., Lin, M. W., Thornton, C. A., Ross, C. A., Margolis, R. L. <strong>Huntington's disease-like 2 is associated with CUG repeat-containing RNA foci.</strong> Ann. Neurol. 61: 272-282, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17387722/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17387722</a>] [<a href="https://doi.org/10.1002/ana.21081" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17387722">Rudnicki et al. (2007)</a> detected RNA foci within frontal lobe neurons of 4 patients with HDL2 using riboprobes specific for expanded CUG tracts and with riboprobes specific for JPH3 intron 1, exon 2A, or exon 2B. The RNA foci resembled those detected in DM1 (<a href="/entry/160900">160900</a>) in terms of size, restriction to nuclei, and colocalization with MBNL1 (<a href="/entry/606516">606516</a>). Approximately 30% of neurons contained foci, and most neurons contained more than 1 focus. Similar foci were also observed in the striatum. There was also a significant decrease in general MBNL1 expression compared to controls. No foci were detected in control brains or HD frontal cortex used as control. Overexpression of JPH3 transcripts containing an expanded CUG repeat expansion were toxic to HEK293 and HT22 cells, suggesting that the RNA transcripts play an important role in the pathogenesis of HDL2 via a toxic RNA gain-of-function effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17387722" 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="Margolis, R. L., O'Hearn, E., Rosenblatt, A., Willour, V., Holmes, S. E., Franz, M. L., Callahan, C., Hwang, H. S., Troncoso, J. C., Ross, C. A. <strong>A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion.</strong> Ann. Neurol. 50: 373-380, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11761463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11761463</a>] [<a href="https://doi.org/10.1002/ana.1312" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11761463">Margolis et al. (2001)</a> found that in family W all tested affected individuals, and no tested unaffected individuals, had a CAG/CTG trinucleotide repeat expansion of 50 to 60 triplets, as determined by the repeat expansion detection assay. Tests for the HD expansion, for all other then-known CAG expansion mutations, and for linkage to chromosomes 20p and 4p were negative, indicating that this mutation was novel. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11761463" 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="Holmes, S. E., O'Hearn, E., Rosenblatt, A., Callahan, C., Hwang, H. S., Ingersoll-Ashworth, R. G., Fleisher, A., Stevanin, G., Brice, A., Potter, N. T., Ross, C. A., Margolis, R. L. <strong>A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.</strong> Nature Genet. 29: 377-378, 2001. Note: Erratum: Nature Genet. 30: 123 only, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11694876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11694876</a>] [<a href="https://doi.org/10.1038/ng760" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11694876">Holmes et al. (2001)</a> demonstrated that the expanded CAG/CTG repeat in the original pedigree was located in an alternatively spliced exon of the JPH3 gene (<a href="/entry/605268#0001">605268.0001</a>). This exon has multiple splice acceptor sites. They found the same mutation in the JPH3 gene in other African American patients with a Huntington disease-like neurologic disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11694876" 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>Among 74 patients with an HD-like phenotype but without CAG repeat expansions in the IT15 gene (HTT; <a href="/entry/613004#0001">613004.0001</a>), <a href="#7" class="mim-tip-reference" title="Stevanin, G., Camuzat, A., Holmes, S. E., Julien, C., Sahloul, R., Dode, C., Hahn-Barma, V., Ross, C. A., Margolis, R. L., Durr, A., Brice, A. <strong>CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients.</strong> Neurology 58: 965-967, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11914418/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11914418</a>] [<a href="https://doi.org/10.1212/wnl.58.6.965" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11914418">Stevanin et al. (2002)</a> identified 1 patient with a pure uninterrupted 50 CAG/CTG repeat in the JPH3 gene. The patient was a 44-year-old Moroccan woman with subcortical dementia, mild choreic movements, and atrophy of the cerebral cortex. In the study by <a href="#7" class="mim-tip-reference" title="Stevanin, G., Camuzat, A., Holmes, S. E., Julien, C., Sahloul, R., Dode, C., Hahn-Barma, V., Ross, C. A., Margolis, R. L., Durr, A., Brice, A. <strong>CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients.</strong> Neurology 58: 965-967, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11914418/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11914418</a>] [<a href="https://doi.org/10.1212/wnl.58.6.965" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11914418">Stevanin et al. (2002)</a>, the HDL2 locus accounted for only 2% of typical HD cases not caused by expansion in the IT15 gene, suggesting further genetic heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11914418" 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 the family reported by <a href="#10" class="mim-tip-reference" title="Walker, R. H., Morgello, S., Davidoff-Feldman, B., Melnick, A., Walsh, M. J., Shashidharan, P., Brin, M. F. <strong>Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions.</strong> Neurology 58: 1031-1037, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11940688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11940688</a>] [<a href="https://doi.org/10.1212/wnl.58.7.1031" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11940688">Walker et al. (2002)</a> as having choreoacanthocytosis, <a href="#11" class="mim-tip-reference" title="Walker, R. H., Rasmussen, A., Rudnicki, D., Holmes, S. E., Alonso, E., Matsuura, T., Ashizawa, T., Davidoff-Feldman, B., Margolis, R. L. <strong>Huntington's disease-like 2 can present as chorea-acanthocytosis.</strong> Neurology 61: 1002-1004, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14557581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14557581</a>] [<a href="https://doi.org/10.1212/01.wnl.0000085866.68470.6d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14557581">Walker et al. (2003)</a> identified trinucleotide repeat expansions of 51, 58, and 57 triplets in the junctophilin-3 gene, confirming Huntington disease-like-2. <a href="#11" class="mim-tip-reference" title="Walker, R. H., Rasmussen, A., Rudnicki, D., Holmes, S. E., Alonso, E., Matsuura, T., Ashizawa, T., Davidoff-Feldman, B., Margolis, R. L. <strong>Huntington's disease-like 2 can present as chorea-acanthocytosis.</strong> Neurology 61: 1002-1004, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14557581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14557581</a>] [<a href="https://doi.org/10.1212/01.wnl.0000085866.68470.6d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14557581">Walker et al. (2003)</a> also reported a Mexican family with HDL2, characterized by dementia, depression, chorea, and parkinsonism, in which affected members had 46, 49, and 46 triplet repeats. One of the patients also had acanthocytosis. Another unrelated affected African American patient, who did not have acanthocytosis, had 44 triplet repeats. The findings indicated that some, but not all, patients with the HDL2 mutation may develop acanthocytosis, and <a href="#11" class="mim-tip-reference" title="Walker, R. H., Rasmussen, A., Rudnicki, D., Holmes, S. E., Alonso, E., Matsuura, T., Ashizawa, T., Davidoff-Feldman, B., Margolis, R. L. <strong>Huntington's disease-like 2 can present as chorea-acanthocytosis.</strong> Neurology 61: 1002-1004, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14557581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14557581</a>] [<a href="https://doi.org/10.1212/01.wnl.0000085866.68470.6d" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14557581">Walker et al. (2003)</a> suggested that there may be reduced penetrance of this feature or that the acanthocytosis may vary over the course of the disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14557581+11940688" 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 9 independent series of patients referred for HD testing in North America (538 patients) or Japan (44 patients), <a href="#2" class="mim-tip-reference" title="Margolis, R. L., Holmes, S. E., Rosenblatt, A., Gourley, L., O'Hearn, E., Ross, C. A., Seltzer, W. K., Walker, R. H., Ashizawa, T., Rasmussen, A., Hayden, M., Almqvist, E. W., and 13 others. <strong>Huntington's disease-like 2 (HDL2) in North America and Japan.</strong> Ann. Neurol. 56: 670-674, 2004. Note: Erratum: Ann. Neurol. 56: 911 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15468075/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15468075</a>] [<a href="https://doi.org/10.1002/ana.20248" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15468075">Margolis et al. (2004)</a> found an HDL2 frequency of approximately 1% in North America and 0% in Japan. HDL2 was identified predominantly in patients of African ancestry. One affected Mexican pedigree originated from a region of Mexico colonized by Africans. Repeat expansions in the junctophilin-3 gene ranged from 44 to 57 triplets, and a younger age at onset was correlated with a longer repeat length. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15468075" 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="Rudnicki, D. D., Holmes, S. E., Lin, M. W., Thornton, C. A., Ross, C. A., Margolis, R. L. <strong>Huntington's disease-like 2 is associated with CUG repeat-containing RNA foci.</strong> Ann. Neurol. 61: 272-282, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17387722/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17387722</a>] [<a href="https://doi.org/10.1002/ana.21081" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17387722">Rudnicki et al. (2007)</a> stated that at least 25 HDL2 pedigrees had been identified; all with known ancestry are of definite or probable African origin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17387722" 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="Santos, C., Wanderley, H., Vedolin, L., Pena, S. D. J., Jardim, L., Sequeiros, J. <strong>Huntington disease-like 2: the first patient with apparent European ancestry.</strong> Clin. Genet. 73: 480-485, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18341606/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18341606</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2008.00981.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18341606">Santos et al. (2008)</a> reported a 48-year-old Brazilian man of European ancestry who presented with a phenotype very suggestive of HD with onset of symptoms at age 44 years. His deceased father was reportedly similarly affected from age 50 years. Genetic analysis in the proband identified a 47 CTG repeat expansion in the JPH3 gene. Although the family did not refer to any African ancestry, the haplotype with the repeat expansion has only been identified in individuals of African ancestry (16.3%), suggesting that there was remote African ancestry in this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18341606" 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="Rodrigues, G. G. R., Walker, R. H., Brice, A., Cazeneuve, C., Russaouen, O., Teive, H. A. G., Munhoz, R. P., Becker, N., Raskin, S., Werneck, L. C., Junior, W. M., Tumas, V. <strong>Huntington's disease-like 2 in Brazil--report of 4 patients.</strong> Mov. Disord. 23: 2244-2255, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18816802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18816802</a>] [<a href="https://doi.org/10.1002/mds.22223" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18816802">Rodrigues et al. (2008)</a> reported 4 unrelated Brazilian patients with HDL2 associated with heterozygous expanded repeat expansions of 47, 59, 46, and 48, respectively, in the JPH3 gene. Age at onset ranged from 22 to 60 years and was inversely correlated to the size of the repeat expansion. Three patients were black, consistent with African descent, and the fourth patient, who was white, was found to have a 'dark-skinned' grandmother, suggesting African ancestry. <a href="#4" class="mim-tip-reference" title="Rodrigues, G. G. R., Walker, R. H., Brice, A., Cazeneuve, C., Russaouen, O., Teive, H. A. G., Munhoz, R. P., Becker, N., Raskin, S., Werneck, L. C., Junior, W. M., Tumas, V. <strong>Huntington's disease-like 2 in Brazil--report of 4 patients.</strong> Mov. Disord. 23: 2244-2255, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18816802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18816802</a>] [<a href="https://doi.org/10.1002/mds.22223" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18816802">Rodrigues et al. (2008)</a> noted that approximately 44.6% of the Brazilian population is of African descent. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18816802" 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="Margolis, R. L., O'Hearn, E., Rosenblatt, A., Willour, V., Holmes, S. E., Franz, M. L., Callahan, C., Hwang, H. S., Troncoso, J. C., Ross, C. A. <strong>A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion.</strong> Ann. Neurol. 50: 373-380, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11761463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11761463</a>] [<a href="https://doi.org/10.1002/ana.1312" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11761463">Margolis et al. (2001)</a> stated that consistent with the recommendation of the Nomenclature Committee of HUGO, the disorder that maps to 20p is designated Huntington disease-like-1 (HDL1; <a href="/entry/603218">603218</a>). They concluded that the family from Saudi Arabia that had been described as 'HD-like-3' is sufficiently distinct, based primarily on autosomal recessive inheritance and in part on presentation (onset age 3 to 4 years, prominent seizures, rapid course), to be classified separately. Since about 1% of all cases of clinically or pathologically defined HD do not carry the HD mutation, it was considered likely that the basis for other rare 'HD-like' disorders will be identified. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11761463" 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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Holmes, S. E., O'Hearn, E., Rosenblatt, A., Callahan, C., Hwang, H. S., Ingersoll-Ashworth, R. G., Fleisher, A., Stevanin, G., Brice, A., Potter, N. T., Ross, C. A., Margolis, R. L.
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<strong>A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.</strong>
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Nature Genet. 29: 377-378, 2001. Note: Erratum: Nature Genet. 30: 123 only, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11694876/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11694876</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11694876" 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/ng760" target="_blank">Full Text</a>]
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Margolis, R. L., Holmes, S. E., Rosenblatt, A., Gourley, L., O'Hearn, E., Ross, C. A., Seltzer, W. K., Walker, R. H., Ashizawa, T., Rasmussen, A., Hayden, M., Almqvist, E. W., and 13 others.
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<strong>Huntington's disease-like 2 (HDL2) in North America and Japan.</strong>
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Ann. Neurol. 56: 670-674, 2004. Note: Erratum: Ann. Neurol. 56: 911 only, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15468075/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15468075</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15468075" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.20248" target="_blank">Full Text</a>]
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<a id="Margolis2001" class="mim-anchor"></a>
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Margolis, R. L., O'Hearn, E., Rosenblatt, A., Willour, V., Holmes, S. E., Franz, M. L., Callahan, C., Hwang, H. S., Troncoso, J. C., Ross, C. A.
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<strong>A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion.</strong>
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Ann. Neurol. 50: 373-380, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11761463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11761463</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11761463" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.1312" target="_blank">Full Text</a>]
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Rodrigues, G. G. R., Walker, R. H., Brice, A., Cazeneuve, C., Russaouen, O., Teive, H. A. G., Munhoz, R. P., Becker, N., Raskin, S., Werneck, L. C., Junior, W. M., Tumas, V.
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<strong>Huntington's disease-like 2 in Brazil--report of 4 patients.</strong>
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Mov. Disord. 23: 2244-2255, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18816802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18816802</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18816802" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/mds.22223" target="_blank">Full Text</a>]
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Rudnicki, D. D., Holmes, S. E., Lin, M. W., Thornton, C. A., Ross, C. A., Margolis, R. L.
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<strong>Huntington's disease-like 2 is associated with CUG repeat-containing RNA foci.</strong>
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Ann. Neurol. 61: 272-282, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17387722/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17387722</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17387722" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.21081" target="_blank">Full Text</a>]
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Santos, C., Wanderley, H., Vedolin, L., Pena, S. D. J., Jardim, L., Sequeiros, J.
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<strong>Huntington disease-like 2: the first patient with apparent European ancestry.</strong>
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Clin. Genet. 73: 480-485, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18341606/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18341606</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18341606" 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/10.1111/j.1399-0004.2008.00981.x" target="_blank">Full Text</a>]
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<a id="Stevanin2002" class="mim-anchor"></a>
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Stevanin, G., Camuzat, A., Holmes, S. E., Julien, C., Sahloul, R., Dode, C., Hahn-Barma, V., Ross, C. A., Margolis, R. L., Durr, A., Brice, A.
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<strong>CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients.</strong>
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Neurology 58: 965-967, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11914418/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11914418</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11914418" 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/wnl.58.6.965" target="_blank">Full Text</a>]
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Todd, P. K., Paulson, H. L.
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<strong>RNA-mediated neurodegeneration in repeat expansion disorders.</strong>
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Ann. Neurol. 67: 291-300, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20373340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20373340</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20373340" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ana.21948" target="_blank">Full Text</a>]
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Van Dijk, J. G., Van der Velde, E. A., Roos, R. A. C., Bruyn, G. W.
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<strong>Juvenile Huntington disease.</strong>
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Hum. Genet. 73: 235-239, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2942452/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2942452</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2942452" 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/10.1007/BF00401235" target="_blank">Full Text</a>]
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Walker, R. H., Morgello, S., Davidoff-Feldman, B., Melnick, A., Walsh, M. J., Shashidharan, P., Brin, M. F.
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<strong>Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions.</strong>
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Neurology 58: 1031-1037, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11940688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11940688</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11940688" 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/wnl.58.7.1031" target="_blank">Full Text</a>]
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Walker, R. H., Rasmussen, A., Rudnicki, D., Holmes, S. E., Alonso, E., Matsuura, T., Ashizawa, T., Davidoff-Feldman, B., Margolis, R. L.
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<strong>Huntington's disease-like 2 can present as chorea-acanthocytosis.</strong>
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Neurology 61: 1002-1004, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14557581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14557581</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14557581" 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/10.1212/01.wnl.0000085866.68470.6d" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 8/3/2010
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Cassandra L. Kniffin - updated : 3/4/2009<br>Cassandra L. Kniffin - updated : 8/22/2008<br>Cassandra L. Kniffin - updated : 6/14/2007<br>Cassandra L. Kniffin - updated : 1/28/2004<br>Victor A. McKusick - updated : 11/5/2001
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Victor A. McKusick : 11/1/2001
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carol : 12/15/2022
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carol : 03/18/2022<br>carol : 08/16/2018<br>carol : 10/03/2017<br>alopez : 10/06/2014<br>carol : 7/27/2012<br>carol : 2/6/2012<br>wwang : 8/4/2010<br>ckniffin : 8/3/2010<br>wwang : 3/9/2009<br>ckniffin : 3/4/2009<br>wwang : 9/3/2008<br>ckniffin : 8/22/2008<br>wwang : 6/27/2007<br>ckniffin : 6/14/2007<br>carol : 11/27/2006<br>terry : 11/16/2006<br>ckniffin : 3/11/2005<br>carol : 3/2/2004<br>carol : 2/25/2004<br>ckniffin : 2/25/2004<br>ckniffin : 1/28/2004<br>carol : 12/16/2002<br>tkritzer : 12/12/2002<br>tkritzer : 12/12/2002<br>ckniffin : 12/9/2002<br>alopez : 11/20/2001<br>alopez : 11/5/2001<br>terry : 11/5/2001<br>alopez : 11/1/2001<br>joanna : 11/1/2001
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<strong>#</strong> 606438
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HUNTINGTON DISEASE-LIKE 2; HDL2
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<strong>SNOMEDCT:</strong> 721228006;
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<strong>ORPHA:</strong> 98934;
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<strong>DO:</strong> 0090104;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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16q24.2
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Huntington disease-like 2
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606438
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Autosomal dominant
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3
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JPH3
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605268
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Huntington disease-like-2 (HDL2) is caused by a heterozygous expanded CAG/CTG repeat in the junctophilin-3 gene (JPH3; 605268) on chromosome 16q24.</p><p>Normal alleles contain 6 to 28 repeats, whereas pathogenic alleles contain over 41 repeats (Todd and Paulson, 2010). </p>
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<strong>Clinical Features</strong>
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<p>Margolis et al. (2001) described a large kindred with an autosomal dominant disorder that is clinically similar to Huntington disease (143100) but arose from a CAG expansion in a different gene. The disorder is characterized by onset in the fourth decade, involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, dementia, and relentless course with death about 20 years after disease onset. Brain magnetic resonance imaging scans and an autopsy revealed marked striatal atrophy and moderate cortical atrophy, with striatal neurodegeneration in a dorsal-to-ventral gradient and occasional intranuclear inclusions. This family was of African American ethnicity, and the parents of the first known affected individual were from a semirural region of the southeastern United States. The disorder in this family, designated family W, fell well within the spectrum of HD. Other than a lower frequency of eye movement findings and the absence of seizures, the disease was similar to juvenile-onset HD (van Dijk et al., 1986) and the 'Westphal' variant of HD observed in some adult cases. Unlike the HDL1 (603218), seizures did not occur in affected members of pedigree W. However, in both pedigrees, rigidity was more prominent than chorea. </p><p>Walker et al. (2002) reported a family in which 3 individuals were affected with what the authors thought was an autosomal dominant form of chorea-acanthocytosis (200150), but which was later found by Walker et al. (2003) to be HDL2. The proband was a 56-year-old man who had initially been diagnosed with Huntington disease. At age 34 years, he developed a slowly progressive deterioration in memory and personality, with involuntary movements of the face and hands. By age 54 years, he was unable to stand, had no spontaneous speech, and showed continuous choreiform movements. Postmortem examination of the brain showed severe, diffuse cortical atrophy and severe atrophy of the caudate and putamen, as well as ubiquitinated intranuclear inclusions with immunoreactivity for expanded polyglutamine repeats throughout the brain. His son, who had fragile X syndrome (300624), developed gait abnormalities, chorea, and dystonia in his late twenties. Head CT scan showed generalized cerebral and caudate atrophy. Walker et al. (2002) suspected that the fragile X was unrelated to the neurologic disorder. The third patient, the nephew of the proband, developed personality changes, primitive reflexes, hyperreflexia, and mild parkinsonism beginning at age 28 years. All 3 patients had 30 to 35% acanthocytosis on peripheral blood smear. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of Huntington disease-like-2 in the family reported by Holmes et al. (2001) was consistent with autosomal dominant inheritance. </p>
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<h4>
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<strong>Pathogenesis</strong>
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<p>Rudnicki et al. (2007) detected RNA foci within frontal lobe neurons of 4 patients with HDL2 using riboprobes specific for expanded CUG tracts and with riboprobes specific for JPH3 intron 1, exon 2A, or exon 2B. The RNA foci resembled those detected in DM1 (160900) in terms of size, restriction to nuclei, and colocalization with MBNL1 (606516). Approximately 30% of neurons contained foci, and most neurons contained more than 1 focus. Similar foci were also observed in the striatum. There was also a significant decrease in general MBNL1 expression compared to controls. No foci were detected in control brains or HD frontal cortex used as control. Overexpression of JPH3 transcripts containing an expanded CUG repeat expansion were toxic to HEK293 and HT22 cells, suggesting that the RNA transcripts play an important role in the pathogenesis of HDL2 via a toxic RNA gain-of-function effect. </p>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>Margolis et al. (2001) found that in family W all tested affected individuals, and no tested unaffected individuals, had a CAG/CTG trinucleotide repeat expansion of 50 to 60 triplets, as determined by the repeat expansion detection assay. Tests for the HD expansion, for all other then-known CAG expansion mutations, and for linkage to chromosomes 20p and 4p were negative, indicating that this mutation was novel. </p><p>Holmes et al. (2001) demonstrated that the expanded CAG/CTG repeat in the original pedigree was located in an alternatively spliced exon of the JPH3 gene (605268.0001). This exon has multiple splice acceptor sites. They found the same mutation in the JPH3 gene in other African American patients with a Huntington disease-like neurologic disorder. </p><p>Among 74 patients with an HD-like phenotype but without CAG repeat expansions in the IT15 gene (HTT; 613004.0001), Stevanin et al. (2002) identified 1 patient with a pure uninterrupted 50 CAG/CTG repeat in the JPH3 gene. The patient was a 44-year-old Moroccan woman with subcortical dementia, mild choreic movements, and atrophy of the cerebral cortex. In the study by Stevanin et al. (2002), the HDL2 locus accounted for only 2% of typical HD cases not caused by expansion in the IT15 gene, suggesting further genetic heterogeneity. </p><p>In the family reported by Walker et al. (2002) as having choreoacanthocytosis, Walker et al. (2003) identified trinucleotide repeat expansions of 51, 58, and 57 triplets in the junctophilin-3 gene, confirming Huntington disease-like-2. Walker et al. (2003) also reported a Mexican family with HDL2, characterized by dementia, depression, chorea, and parkinsonism, in which affected members had 46, 49, and 46 triplet repeats. One of the patients also had acanthocytosis. Another unrelated affected African American patient, who did not have acanthocytosis, had 44 triplet repeats. The findings indicated that some, but not all, patients with the HDL2 mutation may develop acanthocytosis, and Walker et al. (2003) suggested that there may be reduced penetrance of this feature or that the acanthocytosis may vary over the course of the disease. </p>
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<h4>
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<span class="mim-font">
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<strong>Population Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 9 independent series of patients referred for HD testing in North America (538 patients) or Japan (44 patients), Margolis et al. (2004) found an HDL2 frequency of approximately 1% in North America and 0% in Japan. HDL2 was identified predominantly in patients of African ancestry. One affected Mexican pedigree originated from a region of Mexico colonized by Africans. Repeat expansions in the junctophilin-3 gene ranged from 44 to 57 triplets, and a younger age at onset was correlated with a longer repeat length. </p><p>Rudnicki et al. (2007) stated that at least 25 HDL2 pedigrees had been identified; all with known ancestry are of definite or probable African origin. </p><p>Santos et al. (2008) reported a 48-year-old Brazilian man of European ancestry who presented with a phenotype very suggestive of HD with onset of symptoms at age 44 years. His deceased father was reportedly similarly affected from age 50 years. Genetic analysis in the proband identified a 47 CTG repeat expansion in the JPH3 gene. Although the family did not refer to any African ancestry, the haplotype with the repeat expansion has only been identified in individuals of African ancestry (16.3%), suggesting that there was remote African ancestry in this family. </p><p>Rodrigues et al. (2008) reported 4 unrelated Brazilian patients with HDL2 associated with heterozygous expanded repeat expansions of 47, 59, 46, and 48, respectively, in the JPH3 gene. Age at onset ranged from 22 to 60 years and was inversely correlated to the size of the repeat expansion. Three patients were black, consistent with African descent, and the fourth patient, who was white, was found to have a 'dark-skinned' grandmother, suggesting African ancestry. Rodrigues et al. (2008) noted that approximately 44.6% of the Brazilian population is of African descent. </p>
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<h4>
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<span class="mim-font">
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<strong>Nomenclature</strong>
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<span class="mim-text-font">
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<p>Margolis et al. (2001) stated that consistent with the recommendation of the Nomenclature Committee of HUGO, the disorder that maps to 20p is designated Huntington disease-like-1 (HDL1; 603218). They concluded that the family from Saudi Arabia that had been described as 'HD-like-3' is sufficiently distinct, based primarily on autosomal recessive inheritance and in part on presentation (onset age 3 to 4 years, prominent seizures, rapid course), to be classified separately. Since about 1% of all cases of clinically or pathologically defined HD do not carry the HD mutation, it was considered likely that the basis for other rare 'HD-like' disorders will be identified. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<ol>
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<p class="mim-text-font">
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Holmes, S. E., O'Hearn, E., Rosenblatt, A., Callahan, C., Hwang, H. S., Ingersoll-Ashworth, R. G., Fleisher, A., Stevanin, G., Brice, A., Potter, N. T., Ross, C. A., Margolis, R. L.
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<strong>A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.</strong>
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Nature Genet. 29: 377-378, 2001. Note: Erratum: Nature Genet. 30: 123 only, 2002.
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[PubMed: 11694876]
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[Full Text: https://doi.org/10.1038/ng760]
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</li>
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<li>
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<p class="mim-text-font">
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Margolis, R. L., Holmes, S. E., Rosenblatt, A., Gourley, L., O'Hearn, E., Ross, C. A., Seltzer, W. K., Walker, R. H., Ashizawa, T., Rasmussen, A., Hayden, M., Almqvist, E. W., and 13 others.
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<strong>Huntington's disease-like 2 (HDL2) in North America and Japan.</strong>
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Ann. Neurol. 56: 670-674, 2004. Note: Erratum: Ann. Neurol. 56: 911 only, 2004.
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[PubMed: 15468075]
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[Full Text: https://doi.org/10.1002/ana.20248]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Margolis, R. L., O'Hearn, E., Rosenblatt, A., Willour, V., Holmes, S. E., Franz, M. L., Callahan, C., Hwang, H. S., Troncoso, J. C., Ross, C. A.
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<strong>A disorder similar to Huntington's disease is associated with a novel CAG repeat expansion.</strong>
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Ann. Neurol. 50: 373-380, 2001.
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[PubMed: 11761463]
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[Full Text: https://doi.org/10.1002/ana.1312]
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</li>
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<li>
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<p class="mim-text-font">
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Rodrigues, G. G. R., Walker, R. H., Brice, A., Cazeneuve, C., Russaouen, O., Teive, H. A. G., Munhoz, R. P., Becker, N., Raskin, S., Werneck, L. C., Junior, W. M., Tumas, V.
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<strong>Huntington's disease-like 2 in Brazil--report of 4 patients.</strong>
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Mov. Disord. 23: 2244-2255, 2008.
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[PubMed: 18816802]
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[Full Text: https://doi.org/10.1002/mds.22223]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Rudnicki, D. D., Holmes, S. E., Lin, M. W., Thornton, C. A., Ross, C. A., Margolis, R. L.
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<strong>Huntington's disease-like 2 is associated with CUG repeat-containing RNA foci.</strong>
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Ann. Neurol. 61: 272-282, 2007.
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[PubMed: 17387722]
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[Full Text: https://doi.org/10.1002/ana.21081]
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</li>
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<li>
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<p class="mim-text-font">
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Santos, C., Wanderley, H., Vedolin, L., Pena, S. D. J., Jardim, L., Sequeiros, J.
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<strong>Huntington disease-like 2: the first patient with apparent European ancestry.</strong>
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Clin. Genet. 73: 480-485, 2008.
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[PubMed: 18341606]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2008.00981.x]
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<li>
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<p class="mim-text-font">
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Stevanin, G., Camuzat, A., Holmes, S. E., Julien, C., Sahloul, R., Dode, C., Hahn-Barma, V., Ross, C. A., Margolis, R. L., Durr, A., Brice, A.
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<strong>CAG/CTG repeat expansions at the Huntington's disease-like 2 locus are rare in Huntington's disease patients.</strong>
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Neurology 58: 965-967, 2002.
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[PubMed: 11914418]
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[Full Text: https://doi.org/10.1212/wnl.58.6.965]
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Todd, P. K., Paulson, H. L.
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<strong>RNA-mediated neurodegeneration in repeat expansion disorders.</strong>
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Ann. Neurol. 67: 291-300, 2010.
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[PubMed: 20373340]
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[Full Text: https://doi.org/10.1002/ana.21948]
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Van Dijk, J. G., Van der Velde, E. A., Roos, R. A. C., Bruyn, G. W.
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<strong>Juvenile Huntington disease.</strong>
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Hum. Genet. 73: 235-239, 1986.
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[PubMed: 2942452]
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[Full Text: https://doi.org/10.1007/BF00401235]
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Walker, R. H., Morgello, S., Davidoff-Feldman, B., Melnick, A., Walsh, M. J., Shashidharan, P., Brin, M. F.
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<strong>Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions.</strong>
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Neurology 58: 1031-1037, 2002.
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[PubMed: 11940688]
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[Full Text: https://doi.org/10.1212/wnl.58.7.1031]
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Walker, R. H., Rasmussen, A., Rudnicki, D., Holmes, S. E., Alonso, E., Matsuura, T., Ashizawa, T., Davidoff-Feldman, B., Margolis, R. L.
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<strong>Huntington's disease-like 2 can present as chorea-acanthocytosis.</strong>
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Neurology 61: 1002-1004, 2003.
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[PubMed: 14557581]
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[Full Text: https://doi.org/10.1212/01.wnl.0000085866.68470.6d]
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Cassandra L. Kniffin - updated : 8/3/2010<br>Cassandra L. Kniffin - updated : 3/4/2009<br>Cassandra L. Kniffin - updated : 8/22/2008<br>Cassandra L. Kniffin - updated : 6/14/2007<br>Cassandra L. Kniffin - updated : 1/28/2004<br>Victor A. McKusick - updated : 11/5/2001
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Victor A. McKusick : 11/1/2001
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carol : 12/15/2022<br>carol : 03/18/2022<br>carol : 08/16/2018<br>carol : 10/03/2017<br>alopez : 10/06/2014<br>carol : 7/27/2012<br>carol : 2/6/2012<br>wwang : 8/4/2010<br>ckniffin : 8/3/2010<br>wwang : 3/9/2009<br>ckniffin : 3/4/2009<br>wwang : 9/3/2008<br>ckniffin : 8/22/2008<br>wwang : 6/27/2007<br>ckniffin : 6/14/2007<br>carol : 11/27/2006<br>terry : 11/16/2006<br>ckniffin : 3/11/2005<br>carol : 3/2/2004<br>carol : 2/25/2004<br>ckniffin : 2/25/2004<br>ckniffin : 1/28/2004<br>carol : 12/16/2002<br>tkritzer : 12/12/2002<br>tkritzer : 12/12/2002<br>ckniffin : 12/9/2002<br>alopez : 11/20/2001<br>alopez : 11/5/2001<br>terry : 11/5/2001<br>alopez : 11/1/2001<br>joanna : 11/1/2001
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