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Entry
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- #601338 - CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS; CAPOS
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- OMIM
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<p>
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<span class="h4">#601338</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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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/601338"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
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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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<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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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div><a href="https://clinicaltrials.gov/search?cond=CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS" 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=3409&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/NBK1115/" 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/1207" 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=601338[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=1171" 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><a href="https://www.possumcore.com/nuxeo/nxdoc/default/2c75c356-fb15-4019-82d5-4dae0a2ae60d/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</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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<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> 720634003<br />
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<strong>ORPHA:</strong> 1171<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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601338
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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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CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS; CAPOS
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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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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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CAPOS SYNDROME
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/19/745?start=-3&limit=10&highlight=745">
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19q13.2
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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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CAPOS syndrome
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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/601338"> 601338 </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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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</td>
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<td>
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<span class="mim-font">
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ATP1A3
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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/182350"> 182350 </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/601338" 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/601338" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/601338" 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 class="small" style="margin: 5px">
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</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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|
|
- Sensorineural hearing loss, progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843156&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843156</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000408" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000408</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000408" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000408</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60700002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60700002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.1</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> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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|
|
- Visual loss, progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839364&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839364</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000529" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000529</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000529" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000529</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7973008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7973008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H54.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H54.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/369.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">369.9</a>]</span><br /> -
|
|
Optic atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/76976005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">76976005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.2</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/377.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/377.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029124&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029124</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000648</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000648" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000648</a>]</span><br /> -
|
|
Blindness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0456909&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0456909</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000618" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000618</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000618" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000618</a>]</span><br /> -
|
|
Nystagmus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/563001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">563001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028738</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span><br /> -
|
|
Eye movement abnormalities <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/103252009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">103252009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0497202&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0497202</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000496" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000496</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000496" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000496</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
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|
|
|
|
|
|
|
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|
|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Feet </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pes cavus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205091006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205091006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36755004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36755004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86900005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86900005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.73" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.73</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/754.71" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.71</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0728829&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0728829</a>, <a href="https://bioportal.bioontology.org/search?q=C0039273&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039273</a>, <a href="https://bioportal.bioontology.org/search?q=C2239098&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2239098</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Pes_Cavus-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
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</span>
|
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</div>
|
|
</div>
|
|
|
|
</div>
|
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Weakness, episodic <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248278004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248278004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424593&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424593</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R53.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R53.81</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R53.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R53.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/799.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">799.3</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025406" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025406</a>]</span><br /> -
|
|
Hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br />
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|
</span>
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</div>
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</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Episodic acute neurologic deterioration/encephalopathy, recurrent <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4012580&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4012580</a>]</span><br /> -
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Cerebellar ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85102008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85102008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0007758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007758</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>]</span><br /> -
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Gait ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25136009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25136009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R26.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R26.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0751837&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0751837</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002066" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002066</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002066" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002066</a>]</span><br /> -
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Truncal ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/250067008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">250067008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0427190&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0427190</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002078" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002078</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002078" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002078</a>]</span><br /> -
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Motor incoordination <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4012581&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4012581</a>]</span><br /> -
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Dysmetria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32566006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32566006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234162&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234162</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001310" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001310</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001310" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001310</a>]</span><br /> -
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Dystonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15802004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15802004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G24.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G24" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G24</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013421&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013421</a>, <a href="https://bioportal.bioontology.org/search?q=C0393593&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0393593</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001332" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001332</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001332" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001332</a>]</span><br /> -
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Hemiparesis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20022000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20022000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018989&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018989</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001269" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001269</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001269" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001269</a>]</span><br /> -
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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 />
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</span>
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Peripheral 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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- Areflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37280007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37280007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234146&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234146</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001284</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001284</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">
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<em> Behavioral Psychiatric Manifestations </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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- Autistic features (1 family) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846135&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846135</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000729" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000729</a>]</span><br />
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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">
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<strong> MISCELLANEOUS </strong>
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</span>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Onset in infancy or early childhood<br /> -
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Recurrent acute episodes of neurologic deterioration associated with febrile illnesses<br /> -
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Acute episodes decrease with age and disappear<br /> -
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Residual neurologic deficits are slowly progressive<br /> -
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Visual and hearing loss are slowly progressive<br /> -
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Four unrelated families of Caucasian European descent have been reported (last curated February 2015)<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the ATPase, Na+/K+ transporting, alpha-3 polypeptide (ATP1A3, <a href="/entry/182350#0014">182350.0014</a>)<br />
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</span>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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<div>
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<br />
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) is caused by heterozygous mutation in the ATP1A3 gene (<a href="/entry/182350">182350</a>) on chromosome 19q13.</p><p>Heterozygous mutation in the ATP1A3 gene can also cause 2 other neurologic disorders that share some clinical features: dystonia-12 (DYT12; <a href="/entry/128235">128235</a>) and alternating hemiplegia of childhood-2 (AHC2; <a href="/entry/614820">614820</a>).</p>
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<br />
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) is an autosomal dominant neurologic disorder characterized by early-childhood onset of recurrent episodes of acute ataxic encephalopathy associated with febrile illnesses. These acute episodes tend to decrease with time, but the neurologic sequelae are permanent and progressive, resulting in gait and limb ataxia and areflexia. Affected individuals also develop progressive visual impairment due to optic atrophy and sensorineural hearing loss beginning in childhood. More variable features include abnormal eye movements, pes cavus, and dysphagia (summary by <a href="#2" class="mim-tip-reference" title="Demos, M. K., van Karnebeek, C. D. M., Ross, C. J. D., Adam, S., Shen, Y., Zhan, S. H., Shyr, C., Horvath, G., Suri, M., Fryer, A., Jones, S. J. M., Friedman, J. M., FORGE Canada Consortium. <strong>A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.</strong> Orphanet J. Rare Dis. 9: 15, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24468074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24468074</a>] [<a href="https://doi.org/10.1186/1750-1172-9-15" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24468074">Demos et al., 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24468074" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<strong>Clinical Features</strong>
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</h4>
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<span class="mim-text-font">
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<p><a href="#3" class="mim-tip-reference" title="Nicolaides, P., Appleton, R. E., Fryer, A. <strong>Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome.</strong> J. Med. Genet. 33: 419-421, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733056</a>] [<a href="https://doi.org/10.1136/jmg.33.5.419" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8733056">Nicolaides et al. (1996)</a> reported the cases of a mother and a son and daughter with a relapsing, early-onset cerebellar ataxia, associated with progressive optic atrophy and sensorineural deafness. The 3 patients had areflexia (in the absence of a peripheral neuropathy) and pes cavus deformity and showed varying degrees of severity. Extensive neurologic investigations were normal. The male proband presented at the age of 16 months with a 1-day history of nonspecific febrile illness followed by generalized hypotonia and cerebellar ataxia. This episode resolved over the next few days and he made a full recovery within 3 weeks of onset. At the age of 2 years he experienced a similar febrile illness which was associated with drowsiness and lethargy that lasted for a week. He pursued a relapsing and remitting course thereafter. By the age of 6 years his gait was markedly ataxic and he had other signs of cerebellar ataxia and had developed progressive optic atrophy and sensorineural deafness. The proband's previously well sister had nonspecific febrile illness at the age of 9 months accompanied with marked hypotonia, nystagmus, ataxia, areflexia, and flexor plantar responses. She had a complete recovery over 3 days but had persisting horizontal nystagmus, mild, generalized hypotonia, areflexia, and early optic atrophy. Her hearing responses to low-frequency sounds were significantly raised. Cranial MRI for both the daughter and the son was normal. The mother, age 31 years, had mild cerebellar ataxia, absent deep tendon reflexes, pes cavus, profound sensorineural deafness, horizontal nystagmus, and bilateral optic atrophy. She had been well until the age of 18 months when she developed acute ataxia during a febrile illness. <a href="#3" class="mim-tip-reference" title="Nicolaides, P., Appleton, R. E., Fryer, A. <strong>Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome.</strong> J. Med. Genet. 33: 419-421, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733056</a>] [<a href="https://doi.org/10.1136/jmg.33.5.419" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8733056">Nicolaides et al. (1996)</a> noted that 2 maternal sibs (a brother and sister) were unaffected and the grandparents were normal on neurologic examination. <a href="#2" class="mim-tip-reference" title="Demos, M. K., van Karnebeek, C. D. M., Ross, C. J. D., Adam, S., Shen, Y., Zhan, S. H., Shyr, C., Horvath, G., Suri, M., Fryer, A., Jones, S. J. M., Friedman, J. M., FORGE Canada Consortium. <strong>A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.</strong> Orphanet J. Rare Dis. 9: 15, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24468074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24468074</a>] [<a href="https://doi.org/10.1186/1750-1172-9-15" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24468074">Demos et al. (2014)</a> reported follow-up of the family with CAPOS reported by <a href="#3" class="mim-tip-reference" title="Nicolaides, P., Appleton, R. E., Fryer, A. <strong>Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome.</strong> J. Med. Genet. 33: 419-421, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733056</a>] [<a href="https://doi.org/10.1136/jmg.33.5.419" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8733056">Nicolaides et al. (1996)</a>. The affected individuals, aged 22, 20, and 49 years, respectively, had had no further acute episodes, but showed slow progression of all symptoms. They had variable difficulties walking due to poor balance, poor vision, and hearing loss. Cognition was unaffected and brain imaging was normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=24468074+8733056" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Demos, M. K., van Karnebeek, C. D. M., Ross, C. J. D., Adam, S., Shen, Y., Zhan, S. H., Shyr, C., Horvath, G., Suri, M., Fryer, A., Jones, S. J. M., Friedman, J. M., FORGE Canada Consortium. <strong>A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.</strong> Orphanet J. Rare Dis. 9: 15, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24468074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24468074</a>] [<a href="https://doi.org/10.1186/1750-1172-9-15" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24468074">Demos et al. (2014)</a> reported 2 previously unreported Caucasian families of European descent with the disorder. In 1 family, a man and his 3 children were affected. All had onset in infancy or early childhood of acute episodic ataxic encephalopathy and/or weakness triggered by a febrile illness. There was poor recovery after these episodes, with variable lingering neurologic abnormalities, including dysarthria, dysphagia, dysmetria, abnormal eye movements, nystagmus, and truncal and gait ataxia. However, the severity of the permanent neurologic sequelae varied. All eventually developed optic atrophy and sensorineural hearing loss, resulting in blindness and profound deafness in the 43-year-old father. Only 1 patient with the most severe phenotype was found to have mild cognitive dysfunction at age 10 years. A mother and her 2 children were affected in the second family. They presented with recurrent acute episodes of neurologic impairment associated with febrile illnesses beginning in the first years of life. Features included weakness, ataxia, and a progressive decline in hearing and vision. The 2 children showed signs of autistic behavior later in childhood. Brain imaging was normal in all patients studied. Among 10 individuals from 3 families, only 1 patient developed cervical dystonia at age 32 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24468074" 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="Rosewich, H., Weise, D., Ohlenbusch, A., Gartner, J., Brockmann, K. <strong>Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome.</strong> Neurology 83: 861-863, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25056583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25056583</a>] [<a href="https://doi.org/10.1212/WNL.0000000000000735" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25056583">Rosewich et al. (2014)</a> reported a German boy, born of unrelated parents, with a phenotype consistent with CAPOS. After normal early development, he presented at age 20 months with neurologic impairment associated with a febrile illness. He had strabismus, anarthria, hypotonia, and weakness of the right arm. Marked ataxia as well as paresis and dystonia of the arm persisted after the episode. Several subsequent febrile episodes were accompanied by motor deterioration with rapid recovery, but with some residual deficits. He had no further episodes after age 6 years. Examination at age 12 years showed dysarthria, postural instability, bradykinesia, ataxia, hypotonia, dystonia, areflexia, impaired vision with partial optic atrophy, and moderate hearing impairment requiring hearing aids. <a href="#4" class="mim-tip-reference" title="Rosewich, H., Weise, D., Ohlenbusch, A., Gartner, J., Brockmann, K. <strong>Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome.</strong> Neurology 83: 861-863, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25056583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25056583</a>] [<a href="https://doi.org/10.1212/WNL.0000000000000735" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25056583">Rosewich et al. (2014)</a> noted the phenotypic overlap of CAPOS and AHC2 in this patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25056583" 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="Balestrini, S., Mikati, M. A., Alvarez-Garcia-Roves, R., Carboni, M. Hunanyan, A. S., Kherallah, B., McLean, M., Prange, L., De Grandis, E., Gagliardi, A., Pisciotta, L., Stagnaro, M., and 42 others. <strong>Cardiac phenotype in ATP1A3-related syndromes: a multicenter study.</strong> Neurology 95: e2866-e2879, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32913013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32913013</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32913013[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1212/WNL.0000000000010794" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32913013">Balestrini et al. (2020)</a> evaluated the cardiac phenotype in 110 patients with ATP1A3-related disorders, including 98 with AHC2, 9 with DYT12, and 3 with CAPOS; 22 of the AHC2 patients were previously reported, whereas all of the DYT12 and CAPOS patients were newly reported. Seizures were reported in 58 patients, status epilepticus in 21, and autonomic dysfunction in 60. Syncope, which was the only reported symptom related to cardiac function, was seen in 3 patients. Resting electrocardiogram abnormalities were seen in 1 patient with CAPOS. No abnormalities were seen in Holter monitoring in the 2 patients with CAPOS who were tested. There was no difference in prevalence of 12-lead ECG abnormalities between patients with AHC2, DYT12, or CAPOS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32913013" 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="#1" class="mim-tip-reference" title="Balestrini, S., Mikati, M. A., Alvarez-Garcia-Roves, R., Carboni, M. Hunanyan, A. S., Kherallah, B., McLean, M., Prange, L., De Grandis, E., Gagliardi, A., Pisciotta, L., Stagnaro, M., and 42 others. <strong>Cardiac phenotype in ATP1A3-related syndromes: a multicenter study.</strong> Neurology 95: e2866-e2879, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32913013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32913013</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32913013[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1212/WNL.0000000000010794" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32913013">Balestrini et al. (2020)</a> recommended that all individuals with the ATP1A3-related disorders DYT12, AHC2, and CAPOS undergo a baseline ECG, cardiac ultrasound, and Holter monitoring. They further recommended annual 12-lead ECGs for all patients, and additional studies (e.g., Holter monitoring) as needed based on patient symptoms. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32913013" 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 CAPOS in the family reported by <a href="#3" class="mim-tip-reference" title="Nicolaides, P., Appleton, R. E., Fryer, A. <strong>Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome.</strong> J. Med. Genet. 33: 419-421, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733056</a>] [<a href="https://doi.org/10.1136/jmg.33.5.419" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8733056">Nicolaides et al. (1996)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8733056" 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 10 patients from 3 unrelated families with CAPOS, including the original family reported by <a href="#3" class="mim-tip-reference" title="Nicolaides, P., Appleton, R. E., Fryer, A. <strong>Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome.</strong> J. Med. Genet. 33: 419-421, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733056</a>] [<a href="https://doi.org/10.1136/jmg.33.5.419" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8733056">Nicolaides et al. (1996)</a>, <a href="#2" class="mim-tip-reference" title="Demos, M. K., van Karnebeek, C. D. M., Ross, C. J. D., Adam, S., Shen, Y., Zhan, S. H., Shyr, C., Horvath, G., Suri, M., Fryer, A., Jones, S. J. M., Friedman, J. M., FORGE Canada Consortium. <strong>A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.</strong> Orphanet J. Rare Dis. 9: 15, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24468074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24468074</a>] [<a href="https://doi.org/10.1186/1750-1172-9-15" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24468074">Demos et al. (2014)</a> identified the same heterozygous missense mutation in the ATP1A3 gene (E818K; <a href="/entry/182350#0014">182350.0014</a>). The mutation was found by whole-exome sequencing of 2 of the families. The mutation was demonstrated to have occurred de novo in the oldest affected generation of 1 family, but haplotype analysis could not rule out the possibility of a remote relationship between the other 2 families. Functional studies of the E818K variant were not performed, but <a href="#2" class="mim-tip-reference" title="Demos, M. K., van Karnebeek, C. D. M., Ross, C. J. D., Adam, S., Shen, Y., Zhan, S. H., Shyr, C., Horvath, G., Suri, M., Fryer, A., Jones, S. J. M., Friedman, J. M., FORGE Canada Consortium. <strong>A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.</strong> Orphanet J. Rare Dis. 9: 15, 2014. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24468074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24468074</a>] [<a href="https://doi.org/10.1186/1750-1172-9-15" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24468074">Demos et al. (2014)</a> postulated a gain-of-function effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=24468074+8733056" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a German boy with CAPOS, <a href="#4" class="mim-tip-reference" title="Rosewich, H., Weise, D., Ohlenbusch, A., Gartner, J., Brockmann, K. <strong>Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome.</strong> Neurology 83: 861-863, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25056583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25056583</a>] [<a href="https://doi.org/10.1212/WNL.0000000000000735" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25056583">Rosewich et al. (2014)</a> identified a de novo heterozygous E818K mutation in the ATP1A3 gene. Functional studies were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25056583" 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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Balestrini, S., Mikati, M. A., Alvarez-Garcia-Roves, R., Carboni, M. Hunanyan, A. S., Kherallah, B., McLean, M., Prange, L., De Grandis, E., Gagliardi, A., Pisciotta, L., Stagnaro, M., and 42 others.
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Neurology 95: e2866-e2879, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32913013/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32913013</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32913013[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32913013" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Demos, M. K., van Karnebeek, C. D. M., Ross, C. J. D., Adam, S., Shen, Y., Zhan, S. H., Shyr, C., Horvath, G., Suri, M., Fryer, A., Jones, S. J. M., Friedman, J. M., FORGE Canada Consortium.
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<strong>A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.</strong>
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Orphanet J. Rare Dis. 9: 15, 2014. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24468074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24468074</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24468074" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Nicolaides, P., Appleton, R. E., Fryer, A.
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<strong>Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome.</strong>
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J. Med. Genet. 33: 419-421, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733056</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8733056" 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/10.1136/jmg.33.5.419" target="_blank">Full Text</a>]
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Rosewich, H., Weise, D., Ohlenbusch, A., Gartner, J., Brockmann, K.
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<strong>Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome.</strong>
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Neurology 83: 861-863, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25056583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25056583</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25056583" 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.0000000000000735" target="_blank">Full Text</a>]
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Hilary J. Vernon - updated : 02/01/2021
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Cassandra L. Kniffin - updated : 2/25/2015<br>Cassandra L. Kniffin - updated : 9/29/2014
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Victor A. McKusick : 7/9/1996
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ckniffin : 01/12/2022
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carol : 02/02/2021<br>carol : 02/01/2021<br>carol : 05/11/2017<br>carol : 02/26/2015<br>mcolton : 2/25/2015<br>ckniffin : 2/25/2015<br>alopez : 9/29/2014<br>alopez : 9/29/2014<br>ckniffin : 9/29/2014<br>terry : 7/15/1996<br>mark : 7/9/1996
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CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURAL HEARING LOSS; CAPOS
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CAPOS SYNDROME
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<strong>SNOMEDCT:</strong> 720634003;
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<strong>ORPHA:</strong> 1171;
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Phenotype
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19q13.2
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CAPOS syndrome
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601338
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Autosomal dominant
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ATP1A3
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182350
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<p>A number sign (#) is used with this entry because cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) is caused by heterozygous mutation in the ATP1A3 gene (182350) on chromosome 19q13.</p><p>Heterozygous mutation in the ATP1A3 gene can also cause 2 other neurologic disorders that share some clinical features: dystonia-12 (DYT12; 128235) and alternating hemiplegia of childhood-2 (AHC2; 614820).</p>
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<p>Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) is an autosomal dominant neurologic disorder characterized by early-childhood onset of recurrent episodes of acute ataxic encephalopathy associated with febrile illnesses. These acute episodes tend to decrease with time, but the neurologic sequelae are permanent and progressive, resulting in gait and limb ataxia and areflexia. Affected individuals also develop progressive visual impairment due to optic atrophy and sensorineural hearing loss beginning in childhood. More variable features include abnormal eye movements, pes cavus, and dysphagia (summary by Demos et al., 2014). </p>
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<p>Nicolaides et al. (1996) reported the cases of a mother and a son and daughter with a relapsing, early-onset cerebellar ataxia, associated with progressive optic atrophy and sensorineural deafness. The 3 patients had areflexia (in the absence of a peripheral neuropathy) and pes cavus deformity and showed varying degrees of severity. Extensive neurologic investigations were normal. The male proband presented at the age of 16 months with a 1-day history of nonspecific febrile illness followed by generalized hypotonia and cerebellar ataxia. This episode resolved over the next few days and he made a full recovery within 3 weeks of onset. At the age of 2 years he experienced a similar febrile illness which was associated with drowsiness and lethargy that lasted for a week. He pursued a relapsing and remitting course thereafter. By the age of 6 years his gait was markedly ataxic and he had other signs of cerebellar ataxia and had developed progressive optic atrophy and sensorineural deafness. The proband's previously well sister had nonspecific febrile illness at the age of 9 months accompanied with marked hypotonia, nystagmus, ataxia, areflexia, and flexor plantar responses. She had a complete recovery over 3 days but had persisting horizontal nystagmus, mild, generalized hypotonia, areflexia, and early optic atrophy. Her hearing responses to low-frequency sounds were significantly raised. Cranial MRI for both the daughter and the son was normal. The mother, age 31 years, had mild cerebellar ataxia, absent deep tendon reflexes, pes cavus, profound sensorineural deafness, horizontal nystagmus, and bilateral optic atrophy. She had been well until the age of 18 months when she developed acute ataxia during a febrile illness. Nicolaides et al. (1996) noted that 2 maternal sibs (a brother and sister) were unaffected and the grandparents were normal on neurologic examination. Demos et al. (2014) reported follow-up of the family with CAPOS reported by Nicolaides et al. (1996). The affected individuals, aged 22, 20, and 49 years, respectively, had had no further acute episodes, but showed slow progression of all symptoms. They had variable difficulties walking due to poor balance, poor vision, and hearing loss. Cognition was unaffected and brain imaging was normal. </p><p>Demos et al. (2014) reported 2 previously unreported Caucasian families of European descent with the disorder. In 1 family, a man and his 3 children were affected. All had onset in infancy or early childhood of acute episodic ataxic encephalopathy and/or weakness triggered by a febrile illness. There was poor recovery after these episodes, with variable lingering neurologic abnormalities, including dysarthria, dysphagia, dysmetria, abnormal eye movements, nystagmus, and truncal and gait ataxia. However, the severity of the permanent neurologic sequelae varied. All eventually developed optic atrophy and sensorineural hearing loss, resulting in blindness and profound deafness in the 43-year-old father. Only 1 patient with the most severe phenotype was found to have mild cognitive dysfunction at age 10 years. A mother and her 2 children were affected in the second family. They presented with recurrent acute episodes of neurologic impairment associated with febrile illnesses beginning in the first years of life. Features included weakness, ataxia, and a progressive decline in hearing and vision. The 2 children showed signs of autistic behavior later in childhood. Brain imaging was normal in all patients studied. Among 10 individuals from 3 families, only 1 patient developed cervical dystonia at age 32 years. </p><p>Rosewich et al. (2014) reported a German boy, born of unrelated parents, with a phenotype consistent with CAPOS. After normal early development, he presented at age 20 months with neurologic impairment associated with a febrile illness. He had strabismus, anarthria, hypotonia, and weakness of the right arm. Marked ataxia as well as paresis and dystonia of the arm persisted after the episode. Several subsequent febrile episodes were accompanied by motor deterioration with rapid recovery, but with some residual deficits. He had no further episodes after age 6 years. Examination at age 12 years showed dysarthria, postural instability, bradykinesia, ataxia, hypotonia, dystonia, areflexia, impaired vision with partial optic atrophy, and moderate hearing impairment requiring hearing aids. Rosewich et al. (2014) noted the phenotypic overlap of CAPOS and AHC2 in this patient. </p><p>Balestrini et al. (2020) evaluated the cardiac phenotype in 110 patients with ATP1A3-related disorders, including 98 with AHC2, 9 with DYT12, and 3 with CAPOS; 22 of the AHC2 patients were previously reported, whereas all of the DYT12 and CAPOS patients were newly reported. Seizures were reported in 58 patients, status epilepticus in 21, and autonomic dysfunction in 60. Syncope, which was the only reported symptom related to cardiac function, was seen in 3 patients. Resting electrocardiogram abnormalities were seen in 1 patient with CAPOS. No abnormalities were seen in Holter monitoring in the 2 patients with CAPOS who were tested. There was no difference in prevalence of 12-lead ECG abnormalities between patients with AHC2, DYT12, or CAPOS. </p>
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<p>Balestrini et al. (2020) recommended that all individuals with the ATP1A3-related disorders DYT12, AHC2, and CAPOS undergo a baseline ECG, cardiac ultrasound, and Holter monitoring. They further recommended annual 12-lead ECGs for all patients, and additional studies (e.g., Holter monitoring) as needed based on patient symptoms. </p>
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<p>The transmission pattern of CAPOS in the family reported by Nicolaides et al. (1996) was consistent with autosomal dominant inheritance. </p>
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<p>In 10 patients from 3 unrelated families with CAPOS, including the original family reported by Nicolaides et al. (1996), Demos et al. (2014) identified the same heterozygous missense mutation in the ATP1A3 gene (E818K; 182350.0014). The mutation was found by whole-exome sequencing of 2 of the families. The mutation was demonstrated to have occurred de novo in the oldest affected generation of 1 family, but haplotype analysis could not rule out the possibility of a remote relationship between the other 2 families. Functional studies of the E818K variant were not performed, but Demos et al. (2014) postulated a gain-of-function effect. </p><p>In a German boy with CAPOS, Rosewich et al. (2014) identified a de novo heterozygous E818K mutation in the ATP1A3 gene. Functional studies were not performed. </p>
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<strong>REFERENCES</strong>
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Balestrini, S., Mikati, M. A., Alvarez-Garcia-Roves, R., Carboni, M. Hunanyan, A. S., Kherallah, B., McLean, M., Prange, L., De Grandis, E., Gagliardi, A., Pisciotta, L., Stagnaro, M., and 42 others.
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<strong>Cardiac phenotype in ATP1A3-related syndromes: a multicenter study.</strong>
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Neurology 95: e2866-e2879, 2020.
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[PubMed: 32913013]
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[Full Text: https://doi.org/10.1212/WNL.0000000000010794]
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Demos, M. K., van Karnebeek, C. D. M., Ross, C. J. D., Adam, S., Shen, Y., Zhan, S. H., Shyr, C., Horvath, G., Suri, M., Fryer, A., Jones, S. J. M., Friedman, J. M., FORGE Canada Consortium.
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<strong>A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.</strong>
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Orphanet J. Rare Dis. 9: 15, 2014. Note: Electronic Article.
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[PubMed: 24468074]
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[Full Text: https://doi.org/10.1186/1750-1172-9-15]
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Nicolaides, P., Appleton, R. E., Fryer, A.
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<strong>Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome.</strong>
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J. Med. Genet. 33: 419-421, 1996.
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[PubMed: 8733056]
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[Full Text: https://doi.org/10.1136/jmg.33.5.419]
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Rosewich, H., Weise, D., Ohlenbusch, A., Gartner, J., Brockmann, K.
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<strong>Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome.</strong>
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Neurology 83: 861-863, 2014.
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[PubMed: 25056583]
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[Full Text: https://doi.org/10.1212/WNL.0000000000000735]
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Hilary J. Vernon - updated : 02/01/2021<br>Cassandra L. Kniffin - updated : 2/25/2015<br>Cassandra L. Kniffin - updated : 9/29/2014
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Victor A. McKusick : 7/9/1996
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ckniffin : 01/12/2022<br>carol : 02/02/2021<br>carol : 02/01/2021<br>carol : 05/11/2017<br>carol : 02/26/2015<br>mcolton : 2/25/2015<br>ckniffin : 2/25/2015<br>alopez : 9/29/2014<br>alopez : 9/29/2014<br>ckniffin : 9/29/2014<br>terry : 7/15/1996<br>mark : 7/9/1996
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