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Entry
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- #610313 - CRISPONI/COLD-INDUCED SWEATING SYNDROME 2; CISS2
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- OMIM
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<p>
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<span class="h4">#610313</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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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/610313"><strong>Clinical Synopsis</strong></a>
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<li role="presentation">
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<a href="/phenotypicSeries/PS272430"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</h4>
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<div 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><a href="https://clinicaltrials.gov/search?cond=CRISPONI/COLD-INDUCED SWEATING SYNDROME" 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=17149&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/NBK52917/" 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/8001" 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=610313[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=157820" 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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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0080330" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/610313" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 157820<br />
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<strong>DO:</strong> 0080330<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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610313
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</span>
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</span>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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CRISPONI/COLD-INDUCED SWEATING SYNDROME 2; CISS2
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</h3>
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</div>
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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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/11/658?start=-3&limit=10&highlight=658">
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11q13.2
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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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Cold-induced sweating syndrome 2
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/610313"> 610313 </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 recessive">AR</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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</span>
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</td>
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<td>
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<span class="mim-font">
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CLCF1
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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/607672"> 607672 </a>
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</span>
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</td>
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</tbody>
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</table>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/610313" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="sr-only">Toggle Dropdown</span>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS272430" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', '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 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/610313" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/610313" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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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> HEAD & NECK </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Face </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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- Mild facial weakness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837243&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837243</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95666008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95666008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R29.810" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R29.810</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.83</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/781.94" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">781.94</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030319</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> Ears </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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- Prominent ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/275478007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">275478007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1305420&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1305420</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000411" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000411</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000411" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000411</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> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- High-arched palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27272007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27272007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q38.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q38.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240635</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> SKELETAL </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> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Thoracolumbar scoliosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0749379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0749379</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002944" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002944</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002944" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002944</a>]</span><br /> -
|
|
Lumbar lordosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/313471000119104" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">313471000119104</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1184923&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1184923</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002938</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002938</a>]</span><br />
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|
|
</span>
|
|
</div>
|
|
</div>
|
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cubitus valgus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54583007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54583007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70123009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70123009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.01</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265611&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265611</a>, <a href="https://bioportal.bioontology.org/search?q=C0158465&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158465</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002967" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002967</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002967" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002967</a>]</span><br /> -
|
|
Limited elbow extension <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867103&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867103</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001377" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001377</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001377" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001377</a>]</span><br />
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|
|
</span>
|
|
</div>
|
|
</div>
|
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|
|
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Clinodactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17268007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17268007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551485&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551485</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030084" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030084</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030084" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030084</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6c6553591f42fb5585fec835d3e3bab3" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Clinodactyly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6c6553591f42fb5585fec835d3e3bab3" 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>
|
|
</div>
|
|
</div>
|
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|
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|
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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">
|
|
|
|
- Clinodactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17268007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17268007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551485&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551485</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030084" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030084</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030084" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030084</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6c6553591f42fb5585fec835d3e3bab3" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Clinodactyly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6c6553591f42fb5585fec835d3e3bab3" 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 /> -
|
|
Syndactyly, bilateral (2nd and 3rd toes) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674605&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674605</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/373413006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">373413006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.1</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001159</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=bcc47de729f2f227ecf8427f5adf6d12" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Foot,Osseous_Syndactyly_of-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=bcc47de729f2f227ecf8427f5adf6d12" 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>
|
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> SKIN, NAILS, & HAIR </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Skin </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Paradoxical sweating response (sweating induced by cold exposure, inability to sweat in hot weather) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3149829&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3149829</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> NEUROLOGIC </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> 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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- Sensorimotor peripheral neuropathy, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674604&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674604</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007141" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007141</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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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Feeding difficulties in infancy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2674608&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2674608</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008872" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008872</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008872" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008872</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the cardiotrophin-like cytokine gene (CLCF1, <a href="/entry/607672#0001">607672.0001</a>)<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 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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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small">
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<div class="row">
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<h5>
|
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Cold-induced sweating syndrome
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- <a href="/phenotypicSeries/PS272430">PS272430</a>
|
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- 3 Entries
|
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</h5>
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</div>
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</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
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<thead>
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<tr>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Location</strong>
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</th>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
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<strong>Phenotype</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Inheritance</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Phenotype<br />mapping key</strong>
|
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</th>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Phenotype<br />MIM number</strong>
|
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</th>
|
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Gene/Locus</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
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<strong>Gene/Locus<br />MIM number</strong>
|
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</th>
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</tr>
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</thead>
|
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<tbody>
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<tr>
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<td>
|
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<span class="mim-font">
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|
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<a href="/geneMap/7/111?start=-3&limit=10&highlight=111"> 7p15.3 </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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<a href="/entry/617055"> PERCHING syndrome </a>
|
|
</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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|
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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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|
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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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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617055"> 617055 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611119"> KLHL7 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611119"> 611119 </a>
|
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</span>
|
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</td>
|
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</tr>
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<tr>
|
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<td>
|
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<span class="mim-font">
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|
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<a href="/geneMap/11/658?start=-3&limit=10&highlight=658"> 11q13.2 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610313"> Cold-induced sweating syndrome 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
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</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610313"> 610313 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607672"> CLCF1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607672"> 607672 </a>
|
|
</span>
|
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</td>
|
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</tr>
|
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|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/470?start=-3&limit=10&highlight=470"> 19p13.11 </a>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/272430"> Cold-induced sweating syndrome 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/272430"> 272430 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604237"> CRLF1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604237"> 604237 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
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|
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</tbody>
|
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</table>
|
|
</div>
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|
|
<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
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</div>
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<div>
|
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<br />
|
|
</div>
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<div>
|
|
<a id="text" class="mim-anchor"></a>
|
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|
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
|
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<span class="mim-font">
|
|
<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.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
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</h4>
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<div id="mimTextFold" class="collapse in ">
|
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<span class="mim-text-font">
|
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<p>A number sign (#) is used with this entry because of evidence that Crisponi/cold-induced sweating syndrome-2 (CISS2) is caused by compound heterozygous mutation in the CLCF1 gene (<a href="/entry/607672">607672</a>) on chromosome 11q13.</p>
|
|
</span>
|
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<div>
|
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<br />
|
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</div>
|
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</div>
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<div>
|
|
<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
|
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<p>Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by <a href="#2" class="mim-tip-reference" title="Hahn, A. F., Waaler, P. E., Kvistad, P. H., Bamforth, J. S., Miles, J. H., McLeod, J. G., Knappskog, P. M., Boman, H. <strong>Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood: four new cases.</strong> J. Neurol. Sci. 293: 68-75, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20400119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20400119</a>] [<a href="https://doi.org/10.1016/j.jns.2010.02.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20400119">Hahn et al., 2010</a>). <a href="#1" class="mim-tip-reference" title="Buers, I., Persico, I., Schoning, L., Nitschke, Y., Di Rocco, M., Loi, A., Sahi, P. K., Utine, G. E., Bayraktar-Tanyeri, B., Zampino, G., Cripsoni, G., Rutsch, F., Crisponi, L. <strong>Crisponi-cold-induced sweating syndrome: differential diagnosis, pathogenesis and treatment concepts.</strong> Clin. Genet. 97: 209-221, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31497877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31497877</a>] [<a href="https://doi.org/10.1111/cge.13639" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31497877">Buers et al. (2020)</a> provided a detailed review of Crisponi/CISS, including clinical features and evolution of the disease, noting that signs and symptoms in infancy can be severe and result in early death; clinical and genetic diagnoses. The authors also discussed pathogenesis, differential diagnosis, and recommended management and treatment. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20400119+31497877" 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="Buers, I., Persico, I., Schoning, L., Nitschke, Y., Di Rocco, M., Loi, A., Sahi, P. K., Utine, G. E., Bayraktar-Tanyeri, B., Zampino, G., Cripsoni, G., Rutsch, F., Crisponi, L. <strong>Crisponi-cold-induced sweating syndrome: differential diagnosis, pathogenesis and treatment concepts.</strong> Clin. Genet. 97: 209-221, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31497877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31497877</a>] [<a href="https://doi.org/10.1111/cge.13639" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31497877">Buers et al. (2020)</a> provided a detailed review of Crisponi/CISS, including clinical features, diagnosis, and evolution of the disease, differential diagnosis, pathogenesis, and recommended management and treatment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31497877" 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>For a discussion of genetic heterogeneity of Crisponi/cold-induced sweating syndrome, see CISS1 (<a href="/entry/272430">272430</a>).</p>
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</span>
|
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<div>
|
|
<br />
|
|
</div>
|
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</div>
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<div>
|
|
<a id="clinicalFeatures" class="mim-anchor"></a>
|
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Clinical Features</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#3" class="mim-tip-reference" title="Rousseau, F., Gauchat, J.-F., McLeod, J. G., Chevalier, S., Guillet, C., Guilhot, F., Cognet, I., Froger, J., Hahn, A. F., Knappskog, P. M., Gascan, H., Boman, H. <strong>Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient.</strong> Proc. Nat. Acad. Sci. 103: 10068-10073, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16782820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16782820</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16782820[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/10.1073/pnas.0509598103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16782820">Rousseau et al. (2006)</a> reported an Australian man, first examined when he was 46 years of age, who stated that he had feeding difficulties as an infant and suffered all his life from profuse sweating on the face, trunk, and upper limbs when cold in addition to inability to sweat in hot weather. Thermoregulatory sweat tests confirmed the paradoxical sweating response; detailed autonomic studies revealed no other abnormalities. There was no family history of the condition and no parental consanguinity; his sister, 4 children, and grandchildren were unaffected. He displayed congenital physical abnormalities including mild facial weakness, ears set at right angles to the skull, high-arched palate, valgus deformity of the elbows and inability to extend them fully, clinodactyly of the fingers and toes, syndactyly of second and third toes of both feet, thoracolumbar scoliosis and lumbar lordosis, and degenerative disease of the cervical and lumbar spine. There was clinical and electrophysiologic evidence of mild sensorimotor peripheral neuropathy, and CT scan and MRI of the brain were normal. He was reviewed neurologically at 74 years of age, at which time he had undergone surgical fusion of the lumbar spine, bilateral knee replacements, and a nephrectomy for renal carcinoma. He was able to stand and walk but used an electric wheelchair when out of doors. There was no progression of his congenital abnormalities; nerve conduction studies confirmed the presence of a mild, predominantly sensory, neuropathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16782820" 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="Hahn, A. F., Waaler, P. E., Kvistad, P. H., Bamforth, J. S., Miles, J. H., McLeod, J. G., Knappskog, P. M., Boman, H. <strong>Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood: four new cases.</strong> J. Neurol. Sci. 293: 68-75, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20400119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20400119</a>] [<a href="https://doi.org/10.1016/j.jns.2010.02.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20400119">Hahn et al. (2010)</a> reported 2 Hungarian sisters, born of nonconsanguineous parents, who presented in their early twenties with disabling sweating of the upper body in response to cold temperatures or nervousness. Onset of symptoms occurred around age 10 years. Both patients had difficulty sweating during hot weather and often became overheated in such situations. However, heat-induced mild sweating localized primarily to the lumbar region, groin, and legs. Detailed histories revealed that both had severe feeding difficulties in infancy due to poor sucking and swallowing and required nasogastric feeding or gastrostomy tube. When crying or touched, they assumed an opisthotonus-like posture and developed facial muscle contractions with trismus and hypersalivation. Apnea occurred during some of these episodes. One sister had episodes of unexplained fevers, but records for the younger sister were not as detailed. These features abated during the first 2 years of life, and both showed normal psychomotor development, although there was some residual facial muscle weakness. There were mild dysmorphic features apparent from birth, including round face, depressed nasal bridge, anteverted nostrils, long philtrum, high-arched palate, micrognathia, camptodactyly, contractures of the elbows, and dry, scaly skin. Both patients developed scoliosis later in childhood. Neurologic examination as adults showed decreased pain and temperature sensation in the fingers; there were no signs of autonomic dysfunction. The cold-induced sweating abnormalities were alleviated by treatment with clonidine, a central alpha-2-adrenoreceptor agonist that blocks central sympathetic activity by inhibiting noradrenaline release via a feedback mechanism. The effect was lasting with addition of amitriptyline. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20400119" 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="#2" class="mim-tip-reference" title="Hahn, A. F., Waaler, P. E., Kvistad, P. H., Bamforth, J. S., Miles, J. H., McLeod, J. G., Knappskog, P. M., Boman, H. <strong>Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood: four new cases.</strong> J. Neurol. Sci. 293: 68-75, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20400119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20400119</a>] [<a href="https://doi.org/10.1016/j.jns.2010.02.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20400119">Hahn et al. (2010)</a> reviewed and summarized recent findings in the pathogenesis of abnormal sweating in CISS. Sweating is controlled by the sympathetic nervous system, and mature eccrine sweat glands are normally innervated by cholinergic postsynaptic sympathetic neurons. However, during development, the innervating postganglionic sympathetic neurons express a noradrenergic transmitter phenotype. Thus, these sweat gland-innervating neurons normally undergo a process of neurokine-dependent transdifferentiation in response to a retrogradely acting signal secreted from the sweat glands as they become active and mature after birth. This sweat gland-derived signal has been shown to be a member of the IL6 cytokine family. Both CLCF1 and CRLF1 have been shown to be expressed in sweat glands, and the CLCF1/CRLF1 complex has been shown to induce cholinergic differentiation of sympathetic neurons in culture (<a href="#4" class="mim-tip-reference" title="Stanke, M., Duong, C. V., Pape, M., Geissen, M., Burbach, G., Deller, T., Gascan, H., Otto, C., Parlato, R., Schutz, G., Rohrer, H. <strong>Target-dependent specification of the neurotransmitter phenotype: cholinergic differentiation of sympathetic neurons is mediated in vivo by gp 130 signaling.</strong> Development 133: 141-150, 2006. Note: Erratum: Development 133: 383 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16319110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16319110</a>] [<a href="https://doi.org/10.1242/dev.02189" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16319110">Stanke et al., 2006</a>). Thus, mutation in either of these genes is predicted to result in severely reduced or loss of function of the cytokine complex, causing a defect in cholinergic differentiation in sweat glands during development. The distribution of abnormal sweating in affected individuals reflects a complex pattern of functional connections between pre- and post-ganglionic sympathetic neurons along the rostrocaudal axis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20400119+16319110" 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 a 74-year-old Australian man with CISS2, <a href="#3" class="mim-tip-reference" title="Rousseau, F., Gauchat, J.-F., McLeod, J. G., Chevalier, S., Guillet, C., Guilhot, F., Cognet, I., Froger, J., Hahn, A. F., Knappskog, P. M., Gascan, H., Boman, H. <strong>Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient.</strong> Proc. Nat. Acad. Sci. 103: 10068-10073, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16782820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16782820</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16782820[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/10.1073/pnas.0509598103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16782820">Rousseau et al. (2006)</a> identified compound heterozygosity for a truncating (<a href="/entry/607672#0001">607672.0001</a>) and a missense mutation (<a href="/entry/607672#0002">607672.0002</a>) in the CLCF1 gene. The mutations were not found in 140 control chromosomes, and no disease-related mutations were identified in several other genes involved in the ciliary neurotrophic factor (CNTF; <a href="/entry/118945">118945</a>) pathway. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16782820" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 Hungarian sisters with CISS2, <a href="#2" class="mim-tip-reference" title="Hahn, A. F., Waaler, P. E., Kvistad, P. H., Bamforth, J. S., Miles, J. H., McLeod, J. G., Knappskog, P. M., Boman, H. <strong>Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood: four new cases.</strong> J. Neurol. Sci. 293: 68-75, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20400119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20400119</a>] [<a href="https://doi.org/10.1016/j.jns.2010.02.028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20400119">Hahn et al. (2010)</a> identified compound heterozygous mutations in the CLCF1 gene (<a href="/entry/607672#0003">607672.0003</a> and <a href="/entry/607672#0004">607672.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20400119" 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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Buers, I., Persico, I., Schoning, L., Nitschke, Y., Di Rocco, M., Loi, A., Sahi, P. K., Utine, G. E., Bayraktar-Tanyeri, B., Zampino, G., Cripsoni, G., Rutsch, F., Crisponi, L.
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<strong>Crisponi-cold-induced sweating syndrome: differential diagnosis, pathogenesis and treatment concepts.</strong>
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Clin. Genet. 97: 209-221, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31497877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31497877</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31497877" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/cge.13639" target="_blank">Full Text</a>]
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Hahn, A. F., Waaler, P. E., Kvistad, P. H., Bamforth, J. S., Miles, J. H., McLeod, J. G., Knappskog, P. M., Boman, H.
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J. Neurol. Sci. 293: 68-75, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20400119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20400119</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20400119" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Rousseau, F., Gauchat, J.-F., McLeod, J. G., Chevalier, S., Guillet, C., Guilhot, F., Cognet, I., Froger, J., Hahn, A. F., Knappskog, P. M., Gascan, H., Boman, H.
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<strong>Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient.</strong>
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Proc. Nat. Acad. Sci. 103: 10068-10073, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16782820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16782820</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16782820[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=16782820" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Stanke, M., Duong, C. V., Pape, M., Geissen, M., Burbach, G., Deller, T., Gascan, H., Otto, C., Parlato, R., Schutz, G., Rohrer, H.
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<strong>Target-dependent specification of the neurotransmitter phenotype: cholinergic differentiation of sympathetic neurons is mediated in vivo by gp 130 signaling.</strong>
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Development 133: 141-150, 2006. Note: Erratum: Development 133: 383 only, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16319110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16319110</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16319110" 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/10.1242/dev.02189" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 01/06/2020
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ckniffin : 01/06/2020<br>joanna : 05/09/2018<br>carol : 05/01/2018<br>carol : 04/18/2017<br>carol : 08/11/2014<br>carol : 1/11/2013<br>ckniffin : 1/9/2013<br>wwang : 8/15/2006<br>wwang : 8/14/2006<br>wwang : 8/14/2006
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<strong>#</strong> 610313
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CRISPONI/COLD-INDUCED SWEATING SYNDROME 2; CISS2
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<strong>ORPHA:</strong> 157820;
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<strong>DO:</strong> 0080330;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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11q13.2
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Cold-induced sweating syndrome 2
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610313
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Autosomal recessive
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3
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CLCF1
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607672
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Crisponi/cold-induced sweating syndrome-2 (CISS2) is caused by compound heterozygous mutation in the CLCF1 gene (607672) on chromosome 11q13.</p>
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<strong>Description</strong>
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<p>Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010). Buers et al. (2020) provided a detailed review of Crisponi/CISS, including clinical features and evolution of the disease, noting that signs and symptoms in infancy can be severe and result in early death; clinical and genetic diagnoses. The authors also discussed pathogenesis, differential diagnosis, and recommended management and treatment. </p><p>Buers et al. (2020) provided a detailed review of Crisponi/CISS, including clinical features, diagnosis, and evolution of the disease, differential diagnosis, pathogenesis, and recommended management and treatment. </p><p>For a discussion of genetic heterogeneity of Crisponi/cold-induced sweating syndrome, see CISS1 (272430).</p>
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<strong>Clinical Features</strong>
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<p>Rousseau et al. (2006) reported an Australian man, first examined when he was 46 years of age, who stated that he had feeding difficulties as an infant and suffered all his life from profuse sweating on the face, trunk, and upper limbs when cold in addition to inability to sweat in hot weather. Thermoregulatory sweat tests confirmed the paradoxical sweating response; detailed autonomic studies revealed no other abnormalities. There was no family history of the condition and no parental consanguinity; his sister, 4 children, and grandchildren were unaffected. He displayed congenital physical abnormalities including mild facial weakness, ears set at right angles to the skull, high-arched palate, valgus deformity of the elbows and inability to extend them fully, clinodactyly of the fingers and toes, syndactyly of second and third toes of both feet, thoracolumbar scoliosis and lumbar lordosis, and degenerative disease of the cervical and lumbar spine. There was clinical and electrophysiologic evidence of mild sensorimotor peripheral neuropathy, and CT scan and MRI of the brain were normal. He was reviewed neurologically at 74 years of age, at which time he had undergone surgical fusion of the lumbar spine, bilateral knee replacements, and a nephrectomy for renal carcinoma. He was able to stand and walk but used an electric wheelchair when out of doors. There was no progression of his congenital abnormalities; nerve conduction studies confirmed the presence of a mild, predominantly sensory, neuropathy. </p><p>Hahn et al. (2010) reported 2 Hungarian sisters, born of nonconsanguineous parents, who presented in their early twenties with disabling sweating of the upper body in response to cold temperatures or nervousness. Onset of symptoms occurred around age 10 years. Both patients had difficulty sweating during hot weather and often became overheated in such situations. However, heat-induced mild sweating localized primarily to the lumbar region, groin, and legs. Detailed histories revealed that both had severe feeding difficulties in infancy due to poor sucking and swallowing and required nasogastric feeding or gastrostomy tube. When crying or touched, they assumed an opisthotonus-like posture and developed facial muscle contractions with trismus and hypersalivation. Apnea occurred during some of these episodes. One sister had episodes of unexplained fevers, but records for the younger sister were not as detailed. These features abated during the first 2 years of life, and both showed normal psychomotor development, although there was some residual facial muscle weakness. There were mild dysmorphic features apparent from birth, including round face, depressed nasal bridge, anteverted nostrils, long philtrum, high-arched palate, micrognathia, camptodactyly, contractures of the elbows, and dry, scaly skin. Both patients developed scoliosis later in childhood. Neurologic examination as adults showed decreased pain and temperature sensation in the fingers; there were no signs of autonomic dysfunction. The cold-induced sweating abnormalities were alleviated by treatment with clonidine, a central alpha-2-adrenoreceptor agonist that blocks central sympathetic activity by inhibiting noradrenaline release via a feedback mechanism. The effect was lasting with addition of amitriptyline. </p>
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<strong>Pathogenesis</strong>
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<p>Hahn et al. (2010) reviewed and summarized recent findings in the pathogenesis of abnormal sweating in CISS. Sweating is controlled by the sympathetic nervous system, and mature eccrine sweat glands are normally innervated by cholinergic postsynaptic sympathetic neurons. However, during development, the innervating postganglionic sympathetic neurons express a noradrenergic transmitter phenotype. Thus, these sweat gland-innervating neurons normally undergo a process of neurokine-dependent transdifferentiation in response to a retrogradely acting signal secreted from the sweat glands as they become active and mature after birth. This sweat gland-derived signal has been shown to be a member of the IL6 cytokine family. Both CLCF1 and CRLF1 have been shown to be expressed in sweat glands, and the CLCF1/CRLF1 complex has been shown to induce cholinergic differentiation of sympathetic neurons in culture (Stanke et al., 2006). Thus, mutation in either of these genes is predicted to result in severely reduced or loss of function of the cytokine complex, causing a defect in cholinergic differentiation in sweat glands during development. The distribution of abnormal sweating in affected individuals reflects a complex pattern of functional connections between pre- and post-ganglionic sympathetic neurons along the rostrocaudal axis. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>In a 74-year-old Australian man with CISS2, Rousseau et al. (2006) identified compound heterozygosity for a truncating (607672.0001) and a missense mutation (607672.0002) in the CLCF1 gene. The mutations were not found in 140 control chromosomes, and no disease-related mutations were identified in several other genes involved in the ciliary neurotrophic factor (CNTF; 118945) pathway. </p><p>In 2 Hungarian sisters with CISS2, Hahn et al. (2010) identified compound heterozygous mutations in the CLCF1 gene (607672.0003 and 607672.0004). </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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Buers, I., Persico, I., Schoning, L., Nitschke, Y., Di Rocco, M., Loi, A., Sahi, P. K., Utine, G. E., Bayraktar-Tanyeri, B., Zampino, G., Cripsoni, G., Rutsch, F., Crisponi, L.
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<strong>Crisponi-cold-induced sweating syndrome: differential diagnosis, pathogenesis and treatment concepts.</strong>
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Clin. Genet. 97: 209-221, 2020.
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[PubMed: 31497877]
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[Full Text: https://doi.org/10.1111/cge.13639]
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Hahn, A. F., Waaler, P. E., Kvistad, P. H., Bamforth, J. S., Miles, J. H., McLeod, J. G., Knappskog, P. M., Boman, H.
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<strong>Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood: four new cases.</strong>
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J. Neurol. Sci. 293: 68-75, 2010.
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[PubMed: 20400119]
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[Full Text: https://doi.org/10.1016/j.jns.2010.02.028]
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Rousseau, F., Gauchat, J.-F., McLeod, J. G., Chevalier, S., Guillet, C., Guilhot, F., Cognet, I., Froger, J., Hahn, A. F., Knappskog, P. M., Gascan, H., Boman, H.
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<strong>Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient.</strong>
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Proc. Nat. Acad. Sci. 103: 10068-10073, 2006.
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[PubMed: 16782820]
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[Full Text: https://doi.org/10.1073/pnas.0509598103]
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Stanke, M., Duong, C. V., Pape, M., Geissen, M., Burbach, G., Deller, T., Gascan, H., Otto, C., Parlato, R., Schutz, G., Rohrer, H.
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<strong>Target-dependent specification of the neurotransmitter phenotype: cholinergic differentiation of sympathetic neurons is mediated in vivo by gp 130 signaling.</strong>
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Development 133: 141-150, 2006. Note: Erratum: Development 133: 383 only, 2006.
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[PubMed: 16319110]
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[Full Text: https://doi.org/10.1242/dev.02189]
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 01/06/2020
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill : 8/14/2006
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Edit History:
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carol : 01/08/2020<br>ckniffin : 01/06/2020<br>joanna : 05/09/2018<br>carol : 05/01/2018<br>carol : 04/18/2017<br>carol : 08/11/2014<br>carol : 1/11/2013<br>ckniffin : 1/9/2013<br>wwang : 8/15/2006<br>wwang : 8/14/2006<br>wwang : 8/14/2006
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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