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Entry
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- #614129 - PERRAULT SYNDROME 3; PRLTS3
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- OMIM
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<p>
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<span class="h4">#614129</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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<a href="/clinicalSynopsis/614129"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS233400"> <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="#mapping">Mapping</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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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=PERRAULT 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=2589&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/NBK242617/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=614129[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=2855" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div style="display: table-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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</a>
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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:0050857" 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/614129" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0050857" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<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>ORPHA:</strong> 2855<br />
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<strong>DO:</strong> 0050857<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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614129
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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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PERRAULT SYNDROME 3; PRLTS3
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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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DEAFNESS, AUTOSOMAL RECESSIVE 81, FORMERLY; DFNB81, FORMERLY
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/19/176?start=-3&limit=10&highlight=176">
|
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19p13.3
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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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Perrault syndrome 3
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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/614129"> 614129 </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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<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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<span class="mim-font">
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CLPP
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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/601119"> 601119 </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/614129" 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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<a href="/phenotypicSeries/PS233400" 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>
|
|
</div>
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|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/614129" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/614129" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
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</div>
|
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|
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
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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>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short stature (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
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|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Head </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Microcephaly (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551563</a>, <a href="https://bioportal.bioontology.org/search?q=C0025958&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025958</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Microcephaly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hearing loss, congenital sensorineural, severe to profound <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3808417&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3808417</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/700453005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">700453005</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008527" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008527</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
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|
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|
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|
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|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Internal Genitalia (Female) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Ovarian failure, premature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/65846009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">65846009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237788002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237788002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E28.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E28.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085215&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085215</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008209</a>]</span><br /> -
|
|
Small ovaries <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/289837004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">289837004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0567252&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0567252</a>]</span><br /> -
|
|
Streak ovaries <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70550008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70550008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q50.32" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q50.32</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266371&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266371</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010464" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010464</a>]</span><br /> -
|
|
Rudimentary uterus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35850006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35850006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q51.811" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q51.811</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.32" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.32</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266399&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266399</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000013</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000013</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
|
|
|
|
|
|
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|
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|
|
|
|
|
|
|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Seizures (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
|
|
Learning and developmental delay (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3808416&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3808416</a>]</span><br /> -
|
|
Ataxia, cerebellar (in some patients) <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><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
|
|
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|
|
</div>
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|
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ENDOCRINE FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Increased gonadotropin levels (in female patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151678&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151678</a>]</span><br />
|
|
|
|
</span>
|
|
</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 homolog of the E. coli ATP-dependent protease ClpAP, proteolytic subunit gene (CLPP, <a href="/entry/601119#0001">601119.0001</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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Perrault syndrome
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- <a href="/phenotypicSeries/PS233400">PS233400</a>
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- 7 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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<a href="/geneMap/1/1228?start=-3&limit=10&highlight=1228"> 1q22 </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/621101"> Perrault syndrome 7 </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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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/621101"> 621101 </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/602074"> DAP3 </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/602074"> 602074 </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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<a href="/geneMap/3/238?start=-3&limit=10&highlight=238"> 3p21.31 </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/615300"> Perrault syndrome 4 </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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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/615300"> 615300 </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/604544"> LARS2 </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/604544"> 604544 </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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<a href="/geneMap/5/392?start=-3&limit=10&highlight=392"> 5q23.1 </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/233400"> Perrault syndrome 1 </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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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/233400"> 233400 </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/601860"> HSD17B4 </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/601860"> 601860 </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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<a href="/geneMap/5/545?start=-3&limit=10&highlight=545"> 5q31.3 </a>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/614926"> Perrault syndrome 2 </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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|
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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>
|
|
<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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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614926"> 614926 </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/600783"> HARS2 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600783"> 600783 </a>
|
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</span>
|
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</td>
|
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</tr>
|
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|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
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|
|
<a href="/geneMap/10/489?start=-3&limit=10&highlight=489"> 10q24.31 </a>
|
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|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616138"> Perrault syndrome 5 </a>
|
|
</span>
|
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</td>
|
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<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>
|
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</td>
|
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<td>
|
|
<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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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616138"> 616138 </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/606075"> TWNK </a>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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<a href="/entry/606075"> 606075 </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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|
|
<a href="/geneMap/17/353?start=-3&limit=10&highlight=353"> 17q11.2 </a>
|
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|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617565"> Perrault syndrome 6 </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">
|
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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>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617565"> 617565 </a>
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607435"> ERAL1 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607435"> 607435 </a>
|
|
</span>
|
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</td>
|
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</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/19/176?start=-3&limit=10&highlight=176"> 19p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614129"> Perrault syndrome 3 </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/614129"> 614129 </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/601119"> CLPP </a>
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601119"> 601119 </a>
|
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</span>
|
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</td>
|
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</tr>
|
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|
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</tbody>
|
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</table>
|
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</div>
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<div class="text-right small">
|
|
<a href="#mimPhenotypicSeriesFold" 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>
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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="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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|
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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.">
|
|
<strong>TEXT</strong>
|
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</span>
|
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</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 Perrault syndrome-3 (PRLTS3) is caused by homozygous or compound heterozygous mutation in the CLPP gene (<a href="/entry/601119">601119</a>) on chromosome 19p13.</p>
|
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</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>
|
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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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</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>Perrault syndrome (PRLTS) is an autosomal recessive disorder characterized by sensorineural hearing loss (SNHL) and premature ovarian failure (POF) secondary to ovarian dysgenesis. Affected males have SNHL but show normal pubertal development. A spectrum of additional clinical features, including cerebellar ataxia, learning disability, and peripheral neuropathy, have been described in some affected individuals (summary by <a href="#4" class="mim-tip-reference" title="Jenkinson, E. M., Rehman, A. U., Walsh, T., Clayton-Smith, J., Lee, K., Morell, R. J., Drummond, M. C., Khan, S. N., Asif Naeem, M., Rauf, B., Billington, N., Schultz, J. M., and 20 others. <strong>Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.</strong> Am. J. Hum. Genet. 92: 605-613, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23541340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23541340</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23541340[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/10.1016/j.ajhg.2013.02.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23541340">Jenkinson et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23541340" 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 Perrault syndrome, see PRLTS1 (<a href="/entry/233400">233400</a>).</p>
|
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</span>
|
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<div>
|
|
<br />
|
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</div>
|
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</div>
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<div>
|
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<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="#1" class="mim-tip-reference" title="Ain, Q., Nazli, S., Riazuddin, S., Jaleel, A., Riazuddin, S. A., Zafar, A. U., Khan, S. N., Husnain, T., Griffith, A. J., Ahmed, Z. M., Friedman, T. B., Riazuddin, S. <strong>The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3.</strong> Hum. Genet. 122: 445-450, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17690910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17690910</a>] [<a href="https://doi.org/10.1007/s00439-007-0418-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17690910">Ain et al. (2007)</a> reported a consanguineous Pakistani family (PKDF291) in which 4 sisters had profound prelingual hearing loss. Reevaluation of this family by <a href="#4" class="mim-tip-reference" title="Jenkinson, E. M., Rehman, A. U., Walsh, T., Clayton-Smith, J., Lee, K., Morell, R. J., Drummond, M. C., Khan, S. N., Asif Naeem, M., Rauf, B., Billington, N., Schultz, J. M., and 20 others. <strong>Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.</strong> Am. J. Hum. Genet. 92: 605-613, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23541340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23541340</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23541340[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/10.1016/j.ajhg.2013.02.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23541340">Jenkinson et al. (2013)</a> revealed that all 4 affected sisters also had primary amenorrhea with hormone profiles indicative of hypergonadotropic hypogonadism. The 3 oldest affected sibs each had a rudimentary uterus and small ovaries on pelvic ultrasonography, whereas the youngest affected sib had a small uterus and normal sized ovaries at 15 years of age. An unaffected sister had normal imaging of her uterus and ovaries. There was no evidence of learning disability, microcephaly, short stature, epilepsy, or neurologic deficit in this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23541340+17690910" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Jenkinson, E. M., Clayton-Smith, J., Mehta, S., Bennett, C., Reardon, W., Green, A., Pearce, S. H. S., De Michele, G., Conway, G. S., Cilliers, D., Moreton, N., Davis, J. R. E., Trump, D., Newman, W. G. <strong>Perrault syndrome: further evidence for genetic heterogeneity.</strong> J. Neurol. 259: 974-976, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22037954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22037954</a>] [<a href="https://doi.org/10.1007/s00415-011-6285-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22037954">Jenkinson et al. (2012)</a> studied a consanguineous British Pakistani family (P1) in which 3 sisters had sensorineural hearing loss, ovarian dysgenesis and premature ovarian failure, as well as growth retardation, microcephaly, and neurologic features that included seizures, learning and developmental delay, ataxia, and spastic paraplegia. <a href="#4" class="mim-tip-reference" title="Jenkinson, E. M., Rehman, A. U., Walsh, T., Clayton-Smith, J., Lee, K., Morell, R. J., Drummond, M. C., Khan, S. N., Asif Naeem, M., Rauf, B., Billington, N., Schultz, J. M., and 20 others. <strong>Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.</strong> Am. J. Hum. Genet. 92: 605-613, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23541340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23541340</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23541340[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/10.1016/j.ajhg.2013.02.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23541340">Jenkinson et al. (2013)</a> provided additional clinical features of this family, which they designated PDF1. All 3 affected sisters had profound congenital SNHL, with a greater than 90-decibel hearing level at all test frequencies. The youngest sister was evaluated for delayed puberty at 15 years of age, at which time pelvic ultrasonography showed streak ovaries and hormone profile was consistent with hypergonadotropic hypogonadism. <a href="#4" class="mim-tip-reference" title="Jenkinson, E. M., Rehman, A. U., Walsh, T., Clayton-Smith, J., Lee, K., Morell, R. J., Drummond, M. C., Khan, S. N., Asif Naeem, M., Rauf, B., Billington, N., Schultz, J. M., and 20 others. <strong>Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.</strong> Am. J. Hum. Genet. 92: 605-613, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23541340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23541340</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23541340[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/10.1016/j.ajhg.2013.02.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23541340">Jenkinson et al. (2013)</a> noted that the oldest sister had given birth to 2 healthy sons despite the fact that only 1 ovary was detectable on pelvic ultrasound at 22 years of age, demonstrating significant prior ovarian reserve. The sisters also exhibited truncal and cerebellar ataxia, with signs of lower limb spasticity. MRI brain scan of the oldest sister showed abnormally high signal intensity in the deep white matter and corticospinal tract. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22037954+23541340" 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="Dursun, F., Mohamoud, H. S. A., Karim, N., Naeem, M., Jelani, M., Kirmizibekmez, H. <strong>A novel missense mutation in the CLPP gene causing Perrault syndrome type 3 in a Turkish family.</strong> J. Clin. Res. Pediat. Endocr. 8: 472-477, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27087618/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27087618</a>] [<a href="https://doi.org/10.4274/jcrpe.2717" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27087618">Dursun et al. (2016)</a> reported an affected brother and sister from a Turkish family in which the parents came from the same village. The proband was a 16-year-old hearing-impaired girl with secondary amenorrhea. Examination revealed the presence of axillary hair, Tanner stage 5 pubic hair, and breast development at Tanner stage 3. Neurologic evaluation and brain MRI were normal. Pelvic ultrasound showed a small uterus, and ovaries could not be detected; hormone studies revealed hypergonadotropic hypogonadism. Her 21-year-old brother was also hearing-impaired, and exhibited Tanner stage 5 of puberty. Neurologic examination was normal, but he was under treatment for attention-deficit disorder. Neither patient exhibited dysmorphic features. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27087618" 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>By linkage studies in family PKDF291 with deafness, <a href="#1" class="mim-tip-reference" title="Ain, Q., Nazli, S., Riazuddin, S., Jaleel, A., Riazuddin, S. A., Zafar, A. U., Khan, S. N., Husnain, T., Griffith, A. J., Ahmed, Z. M., Friedman, T. B., Riazuddin, S. <strong>The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3.</strong> Hum. Genet. 122: 445-450, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17690910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17690910</a>] [<a href="https://doi.org/10.1007/s00439-007-0418-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17690910">Ain et al. (2007)</a> localized the hearing loss to chromosome 19p13 (maximum 2-point lod score of 3.01 at D19S1034). Linkage analysis of family PKDF291 by <a href="#5" class="mim-tip-reference" title="Rehman, A. U., Gul, K., Morell, R. J., Lee, K., Ahmed, Z. M., Riazuddin, S., Ali, R. A., Shahzad, M., Jaleel, A., Andrade, P. B., Khan, S. N., Khan, S., Brewer, C. C., Ahmad, W., Leal, S. M., Riazuddin, S., Friedman, T. B. <strong>Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.</strong> Hum. Genet. 130: 759-765, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21660509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21660509</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21660509[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/10.1007/s00439-011-1018-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21660509">Rehman et al. (2011)</a> obtained a maximum multipoint lod score of 3.35 at D19S391, within a 4.08-Mb interval between D19S216 and D19S916 containing 104 genes. They designated this locus DFNB81. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17690910+21660509" 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 3 affected sisters and 1 unaffected sister from family PDF1 with Perrault syndrome, <a href="#4" class="mim-tip-reference" title="Jenkinson, E. M., Rehman, A. U., Walsh, T., Clayton-Smith, J., Lee, K., Morell, R. J., Drummond, M. C., Khan, S. N., Asif Naeem, M., Rauf, B., Billington, N., Schultz, J. M., and 20 others. <strong>Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.</strong> Am. J. Hum. Genet. 92: 605-613, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23541340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23541340</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23541340[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/10.1016/j.ajhg.2013.02.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23541340">Jenkinson et al. (2013)</a> performed genomewide homozygosity mapping and found a single region of homozygosity greater than 1 Mb that was shared by the affected sibs but not their unaffected sister: chr19:5,765,869-16,392,163 (GRCh37), a 10.63-Mb interval flanked by SNPs <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs4366824;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs4366824</a> and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs3852916;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs3852916</a> at 19p13.3-p13.11. In another consanguineous Pakistani family (DEM4395) in which a brother and 2 sisters had profound congenital sensorineural hearing loss, <a href="#4" class="mim-tip-reference" title="Jenkinson, E. M., Rehman, A. U., Walsh, T., Clayton-Smith, J., Lee, K., Morell, R. J., Drummond, M. C., Khan, S. N., Asif Naeem, M., Rauf, B., Billington, N., Schultz, J. M., and 20 others. <strong>Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.</strong> Am. J. Hum. Genet. 92: 605-613, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23541340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23541340</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23541340[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/10.1016/j.ajhg.2013.02.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23541340">Jenkinson et al. (2013)</a> performed genotyping of DNA samples from 5 family members and found a 15.64-Mb homozygous locus flanked by 19pter and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1273522;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1273522</a>, with a maximum multipoint lod score of 2.53. The authors noted that the 2 affected sisters reportedly had normal menstrual cycles at ages 22 and 28 years, respectively, although formal evaluation of hormone profiles was not available; no additional medical problems were self-reported by this family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23541340" 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="Dursun, F., Mohamoud, H. S. A., Karim, N., Naeem, M., Jelani, M., Kirmizibekmez, H. <strong>A novel missense mutation in the CLPP gene causing Perrault syndrome type 3 in a Turkish family.</strong> J. Clin. Res. Pediat. Endocr. 8: 472-477, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27087618/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27087618</a>] [<a href="https://doi.org/10.4274/jcrpe.2717" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27087618">Dursun et al. (2016)</a> performed genomewide homozygosity mapping in a Turkish family with Perrault syndrome and identified a 2-Mb region on chromosome 19p13 (chr19:5,469,832-7,472,041) that was homozygous in the 2 affected individuals and heterozygous in their parents. The region contained 64 genes, including CLPP. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27087618" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Jenkinson, E. M., Rehman, A. U., Walsh, T., Clayton-Smith, J., Lee, K., Morell, R. J., Drummond, M. C., Khan, S. N., Asif Naeem, M., Rauf, B., Billington, N., Schultz, J. M., and 20 others. <strong>Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.</strong> Am. J. Hum. Genet. 92: 605-613, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23541340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23541340</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23541340[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/10.1016/j.ajhg.2013.02.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23541340">Jenkinson et al. (2013)</a> performed exome sequencing in affected individuals with features of Perrault syndrome from 3 unrelated Pakistani families, including a family (PKDF291) reported by <a href="#1" class="mim-tip-reference" title="Ain, Q., Nazli, S., Riazuddin, S., Jaleel, A., Riazuddin, S. A., Zafar, A. U., Khan, S. N., Husnain, T., Griffith, A. J., Ahmed, Z. M., Friedman, T. B., Riazuddin, S. <strong>The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3.</strong> Hum. Genet. 122: 445-450, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17690910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17690910</a>] [<a href="https://doi.org/10.1007/s00439-007-0418-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17690910">Ain et al. (2007)</a> and another (PDF1) reported by <a href="#3" class="mim-tip-reference" title="Jenkinson, E. M., Clayton-Smith, J., Mehta, S., Bennett, C., Reardon, W., Green, A., Pearce, S. H. S., De Michele, G., Conway, G. S., Cilliers, D., Moreton, N., Davis, J. R. E., Trump, D., Newman, W. G. <strong>Perrault syndrome: further evidence for genetic heterogeneity.</strong> J. Neurol. 259: 974-976, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22037954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22037954</a>] [<a href="https://doi.org/10.1007/s00415-011-6285-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22037954">Jenkinson et al. (2012)</a>. The mapped loci at chromosome 19p13 overlapped in the 3 families, and all 3 were found to be homozygous for mutations in the CLPP gene (<a href="/entry/601119">601119</a>) that were not present in the NHLBI Exome Variant Server: affected members of families PDF1 and PKDF291 were homozygous for missense mutations in CLPP (T145P, <a href="/entry/601119#0001">601119.0001</a>; and C147S, <a href="/entry/601119#0002">601119.0002</a>, respectively), whereas the 3 affected sibs in family DEM4395 were homozygous for a splice site mutation (<a href="/entry/601119#0003">601119.0003</a>). Sanger sequencing of the CLPP gene in 20 additional families with Perrault syndrome did not reveal any mutations. <a href="#4" class="mim-tip-reference" title="Jenkinson, E. M., Rehman, A. U., Walsh, T., Clayton-Smith, J., Lee, K., Morell, R. J., Drummond, M. C., Khan, S. N., Asif Naeem, M., Rauf, B., Billington, N., Schultz, J. M., and 20 others. <strong>Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.</strong> Am. J. Hum. Genet. 92: 605-613, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23541340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23541340</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23541340[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/10.1016/j.ajhg.2013.02.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23541340">Jenkinson et al. (2013)</a> noted that severe to profound hearing loss was present in all affected individuals from the 3 families with mutations in CLPP, in contrast to the more variable hearing loss described in families with Perrault syndrome due to mutation in the HSD17B4 gene (<a href="/entry/601860">601860</a>; see PRLTS1, <a href="/entry/233400">233400</a>) or the HARS2 gene (<a href="/entry/600783">600783</a>; see PRLTS2, <a href="/entry/614926">614926</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22037954+23541340+17690910" 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 Turkish family in which 2 sibs had Perrault syndrome mapping to chromosome 19p13, <a href="#2" class="mim-tip-reference" title="Dursun, F., Mohamoud, H. S. A., Karim, N., Naeem, M., Jelani, M., Kirmizibekmez, H. <strong>A novel missense mutation in the CLPP gene causing Perrault syndrome type 3 in a Turkish family.</strong> J. Clin. Res. Pediat. Endocr. 8: 472-477, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27087618/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27087618</a>] [<a href="https://doi.org/10.4274/jcrpe.2717" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27087618">Dursun et al. (2016)</a> sequenced the candidate gene CLPP and identified homozygosity for a missense mutation (I208M; <a href="/entry/601119#0004">601119.0004</a>) that segregated with disease and was not found in controls or in public variant databases. The authors noted that these patients appeared to have a milder phenotype, without neurologic findings. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27087618" 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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<a id="Ain2007" class="mim-anchor"></a>
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Ain, Q., Nazli, S., Riazuddin, S., Jaleel, A., Riazuddin, S. A., Zafar, A. U., Khan, S. N., Husnain, T., Griffith, A. J., Ahmed, Z. M., Friedman, T. B., Riazuddin, S.
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<strong>The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3.</strong>
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Hum. Genet. 122: 445-450, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17690910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17690910</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17690910" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00439-007-0418-z" target="_blank">Full Text</a>]
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<a id="Dursun2016" class="mim-anchor"></a>
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Dursun, F., Mohamoud, H. S. A., Karim, N., Naeem, M., Jelani, M., Kirmizibekmez, H.
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<strong>A novel missense mutation in the CLPP gene causing Perrault syndrome type 3 in a Turkish family.</strong>
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J. Clin. Res. Pediat. Endocr. 8: 472-477, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27087618/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27087618</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27087618" 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/10.4274/jcrpe.2717" target="_blank">Full Text</a>]
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Jenkinson, E. M., Clayton-Smith, J., Mehta, S., Bennett, C., Reardon, W., Green, A., Pearce, S. H. S., De Michele, G., Conway, G. S., Cilliers, D., Moreton, N., Davis, J. R. E., Trump, D., Newman, W. G.
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<strong>Perrault syndrome: further evidence for genetic heterogeneity.</strong>
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J. Neurol. 259: 974-976, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22037954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22037954</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22037954" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00415-011-6285-5" target="_blank">Full Text</a>]
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Jenkinson, E. M., Rehman, A. U., Walsh, T., Clayton-Smith, J., Lee, K., Morell, R. J., Drummond, M. C., Khan, S. N., Asif Naeem, M., Rauf, B., Billington, N., Schultz, J. M., and 20 others.
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<strong>Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.</strong>
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Am. J. Hum. Genet. 92: 605-613, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23541340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23541340</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23541340[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=23541340" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2013.02.013" target="_blank">Full Text</a>]
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Rehman, A. U., Gul, K., Morell, R. J., Lee, K., Ahmed, Z. M., Riazuddin, S., Ali, R. A., Shahzad, M., Jaleel, A., Andrade, P. B., Khan, S. N., Khan, S., Brewer, C. C., Ahmad, W., Leal, S. M., Riazuddin, S., Friedman, T. B.
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<strong>Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.</strong>
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Hum. Genet. 130: 759-765, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21660509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21660509</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21660509[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=21660509" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00439-011-1018-5" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 06/12/2018
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Marla J. F. O'Neill - updated : 7/10/2013
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Cassandra L. Kniffin : 7/27/2011
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alopez : 10/27/2014<br>carol : 7/11/2013<br>carol : 7/10/2013<br>carol : 11/23/2011<br>wwang : 7/28/2011<br>ckniffin : 7/27/2011
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<strong>#</strong> 614129
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PERRAULT SYNDROME 3; PRLTS3
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DEAFNESS, AUTOSOMAL RECESSIVE 81, FORMERLY; DFNB81, FORMERLY
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<strong>ORPHA:</strong> 2855;
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<strong>DO:</strong> 0050857;
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<strong>Phenotype-Gene Relationships</strong>
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Phenotype
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Inheritance
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19p13.3
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Perrault syndrome 3
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614129
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Autosomal recessive
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3
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CLPP
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601119
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because Perrault syndrome-3 (PRLTS3) is caused by homozygous or compound heterozygous mutation in the CLPP gene (601119) on chromosome 19p13.</p>
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<strong>Description</strong>
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<p>Perrault syndrome (PRLTS) is an autosomal recessive disorder characterized by sensorineural hearing loss (SNHL) and premature ovarian failure (POF) secondary to ovarian dysgenesis. Affected males have SNHL but show normal pubertal development. A spectrum of additional clinical features, including cerebellar ataxia, learning disability, and peripheral neuropathy, have been described in some affected individuals (summary by Jenkinson et al., 2013). </p><p>For a discussion of genetic heterogeneity of Perrault syndrome, see PRLTS1 (233400).</p>
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<strong>Clinical Features</strong>
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<p>Ain et al. (2007) reported a consanguineous Pakistani family (PKDF291) in which 4 sisters had profound prelingual hearing loss. Reevaluation of this family by Jenkinson et al. (2013) revealed that all 4 affected sisters also had primary amenorrhea with hormone profiles indicative of hypergonadotropic hypogonadism. The 3 oldest affected sibs each had a rudimentary uterus and small ovaries on pelvic ultrasonography, whereas the youngest affected sib had a small uterus and normal sized ovaries at 15 years of age. An unaffected sister had normal imaging of her uterus and ovaries. There was no evidence of learning disability, microcephaly, short stature, epilepsy, or neurologic deficit in this family. </p><p>Jenkinson et al. (2012) studied a consanguineous British Pakistani family (P1) in which 3 sisters had sensorineural hearing loss, ovarian dysgenesis and premature ovarian failure, as well as growth retardation, microcephaly, and neurologic features that included seizures, learning and developmental delay, ataxia, and spastic paraplegia. Jenkinson et al. (2013) provided additional clinical features of this family, which they designated PDF1. All 3 affected sisters had profound congenital SNHL, with a greater than 90-decibel hearing level at all test frequencies. The youngest sister was evaluated for delayed puberty at 15 years of age, at which time pelvic ultrasonography showed streak ovaries and hormone profile was consistent with hypergonadotropic hypogonadism. Jenkinson et al. (2013) noted that the oldest sister had given birth to 2 healthy sons despite the fact that only 1 ovary was detectable on pelvic ultrasound at 22 years of age, demonstrating significant prior ovarian reserve. The sisters also exhibited truncal and cerebellar ataxia, with signs of lower limb spasticity. MRI brain scan of the oldest sister showed abnormally high signal intensity in the deep white matter and corticospinal tract. </p><p>Dursun et al. (2016) reported an affected brother and sister from a Turkish family in which the parents came from the same village. The proband was a 16-year-old hearing-impaired girl with secondary amenorrhea. Examination revealed the presence of axillary hair, Tanner stage 5 pubic hair, and breast development at Tanner stage 3. Neurologic evaluation and brain MRI were normal. Pelvic ultrasound showed a small uterus, and ovaries could not be detected; hormone studies revealed hypergonadotropic hypogonadism. Her 21-year-old brother was also hearing-impaired, and exhibited Tanner stage 5 of puberty. Neurologic examination was normal, but he was under treatment for attention-deficit disorder. Neither patient exhibited dysmorphic features. </p>
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<strong>Mapping</strong>
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<p>By linkage studies in family PKDF291 with deafness, Ain et al. (2007) localized the hearing loss to chromosome 19p13 (maximum 2-point lod score of 3.01 at D19S1034). Linkage analysis of family PKDF291 by Rehman et al. (2011) obtained a maximum multipoint lod score of 3.35 at D19S391, within a 4.08-Mb interval between D19S216 and D19S916 containing 104 genes. They designated this locus DFNB81. </p><p>In 3 affected sisters and 1 unaffected sister from family PDF1 with Perrault syndrome, Jenkinson et al. (2013) performed genomewide homozygosity mapping and found a single region of homozygosity greater than 1 Mb that was shared by the affected sibs but not their unaffected sister: chr19:5,765,869-16,392,163 (GRCh37), a 10.63-Mb interval flanked by SNPs rs4366824 and rs3852916 at 19p13.3-p13.11. In another consanguineous Pakistani family (DEM4395) in which a brother and 2 sisters had profound congenital sensorineural hearing loss, Jenkinson et al. (2013) performed genotyping of DNA samples from 5 family members and found a 15.64-Mb homozygous locus flanked by 19pter and rs1273522, with a maximum multipoint lod score of 2.53. The authors noted that the 2 affected sisters reportedly had normal menstrual cycles at ages 22 and 28 years, respectively, although formal evaluation of hormone profiles was not available; no additional medical problems were self-reported by this family. </p><p>Dursun et al. (2016) performed genomewide homozygosity mapping in a Turkish family with Perrault syndrome and identified a 2-Mb region on chromosome 19p13 (chr19:5,469,832-7,472,041) that was homozygous in the 2 affected individuals and heterozygous in their parents. The region contained 64 genes, including CLPP. </p>
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<strong>Molecular Genetics</strong>
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<p>Jenkinson et al. (2013) performed exome sequencing in affected individuals with features of Perrault syndrome from 3 unrelated Pakistani families, including a family (PKDF291) reported by Ain et al. (2007) and another (PDF1) reported by Jenkinson et al. (2012). The mapped loci at chromosome 19p13 overlapped in the 3 families, and all 3 were found to be homozygous for mutations in the CLPP gene (601119) that were not present in the NHLBI Exome Variant Server: affected members of families PDF1 and PKDF291 were homozygous for missense mutations in CLPP (T145P, 601119.0001; and C147S, 601119.0002, respectively), whereas the 3 affected sibs in family DEM4395 were homozygous for a splice site mutation (601119.0003). Sanger sequencing of the CLPP gene in 20 additional families with Perrault syndrome did not reveal any mutations. Jenkinson et al. (2013) noted that severe to profound hearing loss was present in all affected individuals from the 3 families with mutations in CLPP, in contrast to the more variable hearing loss described in families with Perrault syndrome due to mutation in the HSD17B4 gene (601860; see PRLTS1, 233400) or the HARS2 gene (600783; see PRLTS2, 614926). </p><p>In a Turkish family in which 2 sibs had Perrault syndrome mapping to chromosome 19p13, Dursun et al. (2016) sequenced the candidate gene CLPP and identified homozygosity for a missense mutation (I208M; 601119.0004) that segregated with disease and was not found in controls or in public variant databases. The authors noted that these patients appeared to have a milder phenotype, without neurologic findings. </p>
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<strong>REFERENCES</strong>
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Ain, Q., Nazli, S., Riazuddin, S., Jaleel, A., Riazuddin, S. A., Zafar, A. U., Khan, S. N., Husnain, T., Griffith, A. J., Ahmed, Z. M., Friedman, T. B., Riazuddin, S.
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<strong>The autosomal recessive nonsyndromic deafness locus DFNB72 is located on chromosome 19p13.3.</strong>
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Hum. Genet. 122: 445-450, 2007.
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[PubMed: 17690910]
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[Full Text: https://doi.org/10.1007/s00439-007-0418-z]
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Dursun, F., Mohamoud, H. S. A., Karim, N., Naeem, M., Jelani, M., Kirmizibekmez, H.
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<strong>A novel missense mutation in the CLPP gene causing Perrault syndrome type 3 in a Turkish family.</strong>
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J. Clin. Res. Pediat. Endocr. 8: 472-477, 2016.
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[PubMed: 27087618]
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[Full Text: https://doi.org/10.4274/jcrpe.2717]
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Jenkinson, E. M., Clayton-Smith, J., Mehta, S., Bennett, C., Reardon, W., Green, A., Pearce, S. H. S., De Michele, G., Conway, G. S., Cilliers, D., Moreton, N., Davis, J. R. E., Trump, D., Newman, W. G.
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<strong>Perrault syndrome: further evidence for genetic heterogeneity.</strong>
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J. Neurol. 259: 974-976, 2012.
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[PubMed: 22037954]
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[Full Text: https://doi.org/10.1007/s00415-011-6285-5]
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Jenkinson, E. M., Rehman, A. U., Walsh, T., Clayton-Smith, J., Lee, K., Morell, R. J., Drummond, M. C., Khan, S. N., Asif Naeem, M., Rauf, B., Billington, N., Schultz, J. M., and 20 others.
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<strong>Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.</strong>
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Am. J. Hum. Genet. 92: 605-613, 2013.
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[PubMed: 23541340]
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[Full Text: https://doi.org/10.1016/j.ajhg.2013.02.013]
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Rehman, A. U., Gul, K., Morell, R. J., Lee, K., Ahmed, Z. M., Riazuddin, S., Ali, R. A., Shahzad, M., Jaleel, A., Andrade, P. B., Khan, S. N., Khan, S., Brewer, C. C., Ahmad, W., Leal, S. M., Riazuddin, S., Friedman, T. B.
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<strong>Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p.</strong>
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Hum. Genet. 130: 759-765, 2011.
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[PubMed: 21660509]
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[Full Text: https://doi.org/10.1007/s00439-011-1018-5]
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Marla J. F. O'Neill - updated : 06/12/2018<br>Marla J. F. O'Neill - updated : 7/10/2013
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