nih-gov/www.ncbi.nlm.nih.gov/omim/609439

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Entry
- #609439 - DEAFNESS, AUTOSOMAL RECESSIVE 48; DFNB48
- OMIM
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<span class="h4">#609439</span>
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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/609439"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS220290"> <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="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#contributors"><strong>Contributors</strong></a>
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</span>
</div>
<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
<div class="panel-body small mim-panel-body">
<div><a href="https://clinicaltrials.gov/search?cond=(DEAFNESS, AUTOSOMAL RECESSIVE) OR (CIB2)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=12047&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>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=609439[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>
<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90636" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
<span class="small">
<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
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</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0110505" 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>
<div><a href="http://www.informatics.jax.org/disease/609439" 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>
<div><a href="https://wormbase.org/resources/disease/DOID:0110505" 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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</div>
</div>
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<span>
<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.">
&nbsp;
</span>
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</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>ORPHA:</strong> 90636<br />
<strong>DO:</strong> 0110505<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
609439
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
DEAFNESS, AUTOSOMAL RECESSIVE 48; DFNB48
</span>
</h3>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/421?start=-3&limit=10&highlight=421">
15q25.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Deafness, autosomal recessive 48
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609439"> 609439 </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">
CIB2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605564"> 605564 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
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<a href="/clinicalSynopsis/609439" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<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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<div class="btn-group">
<a href="/phenotypicSeries/PS220290" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
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<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/609439" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/609439" 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>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- 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 />
</span>
</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> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hearing loss, congenital, profound (250-8,000 Hz) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836201&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836201</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95828007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95828007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.5</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Prelingual onset <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864816&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864816</a>]</span><br /> -
Hearing loss affects all frequencies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2677639&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2677639</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the calcium- and integrin-binding protein 2 gene (CIB2, <a href="/entry/605564#0001">605564.0001</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Deafness, autosomal recessive
- <a href="/phenotypicSeries/PS220290">PS220290</a>
- 109 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/87?start=-3&limit=10&highlight=87"> 1p36.31-p36.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614414"> Deafness, autosomal recessive 96 </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614414"> 614414 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614414"> DFNB96 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614414"> 614414 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/98?start=-3&limit=10&highlight=98"> 1p36.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609006"> Deafness, neurosensory, without vestibular involvement, autosomal dominant </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/609006"> 609006 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606351"> ESPN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606351"> 606351 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/98?start=-3&limit=10&highlight=98"> 1p36.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609006"> Deafness, autosomal recessive 36 </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/609006"> 609006 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606351"> ESPN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606351"> 606351 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/423?start=-3&limit=10&highlight=423"> 1p34.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/220290"> Deafness, digenic, GJB2/GJB3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</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/220290"> 220290 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603324"> GJB3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603324"> 603324 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/683?start=-3&limit=10&highlight=683"> 1p31.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617654"> ?Deafness, autosomal recessive 108 </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/617654"> 617654 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602336"> ROR1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602336"> 602336 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/839?start=-3&limit=10&highlight=839"> 1p21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608653"> Deafness, autosomal recessive 32, with or without immotile sperm </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/608653"> 608653 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603504"> CDC14A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603504"> 603504 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1308?start=-3&limit=10&highlight=1308"> 1q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600791"> Enlarged vestibular aqueduct, digenic </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/600791"> 600791 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602208"> KCNJ10 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602208"> 602208 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1826?start=-3&limit=10&highlight=1826"> 1q43-q44 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612433"> Deafness, autosomal recessive 45 </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612433"> 612433 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612433"> DFNB45 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612433"> 612433 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/26?start=-3&limit=10&highlight=26"> 2p25.1-p24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609946"> Deafness, neurosensory, autosomal recessive 47 </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609946"> 609946 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609946"> DFNB47 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609946"> 609946 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/108?start=-3&limit=10&highlight=108"> 2p23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601071"> Auditory neuropathy, autosomal recessive, 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601071"> 601071 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603681"> OTOF </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603681"> 603681 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/108?start=-3&limit=10&highlight=108"> 2p23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601071"> Deafness, autosomal recessive 9 </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/601071"> 601071 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603681"> OTOF </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603681"> 603681 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/269?start=-3&limit=10&highlight=269"> 2p16.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614934"> Deafness, autosomal recessive 70, with or without adult-onset neurodegeneration </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/614934"> 614934 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610316"> PNPT1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610316"> 610316 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/421?start=-3&limit=10&highlight=421"> 2p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615429"> ?Deafness, autosomal recessive 88 </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/615429"> 615429 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615427"> ELMOD3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615427"> 615427 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/676?start=-3&limit=10&highlight=676"> 2q23-q31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605818"> Deafness, autosomal recessive 27 </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605818"> 605818 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605818"> DFNB27 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605818"> 605818 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/820?start=-3&limit=10&highlight=820"> 2q31.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610220"> Deafness, autosomal recessive 59 </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/610220"> 610220 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610219"> PJVK </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610219"> 610219 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/58?start=-3&limit=10&highlight=58"> 3p25.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601386"> {Deafness, autosomal recessive 12, modifier of} </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/601386"> 601386 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/108733"> ATP2B2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/108733"> 108733 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/257?start=-3&limit=10&highlight=257"> 3p21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600971"> Deafness, autosomal recessive 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">
<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/600971"> 600971 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607237"> TMIE </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607237"> 607237 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/583?start=-3&limit=10&highlight=583"> 3q13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620551"> Deafness, autosomal recessive 121 </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/620551"> 620551 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610464"> GPR156 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610464"> 610464 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/598?start=-3&limit=10&highlight=598"> 3q13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609646"> Deafness, autosomal recessive 42 </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/609646"> 609646 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609739"> ILDR1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609739"> 609739 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/116?start=-3&limit=10&highlight=116"> 4p15.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619174"> Deafness, autosomal recessive 117 </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/619174"> 619174 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618988"> CLRN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618988"> 618988 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/181?start=-3&limit=10&highlight=181"> 4p13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613285"> Deafness, autosomal recessive 25 </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/613285"> 613285 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613283"> GRXCR1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613283"> 613283 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/209?start=-3&limit=10&highlight=209"> 4q12-q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609952"> Deafness, autosomal recessive 55 </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609952"> 609952 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609952"> DFNB55 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609952"> 609952 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/578?start=-3&limit=10&highlight=578"> 4q31.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605428"> ?Deafness, autosomal recessive 26 </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/605428"> 605428 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604439"> GAB1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604439"> 604439 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/228?start=-3&limit=10&highlight=228"> 5q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610153"> Deafness, autosomal recessive 49 </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/610153"> 610153 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610572"> MARVELD2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610572"> 610572 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/236?start=-3&limit=10&highlight=236"> 5q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618257"> ?Deafness, autosomal recessive 112 </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/618257"> 618257 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607012"> BDP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607012"> 607012 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/349?start=-3&limit=10&highlight=349"> 5q21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618422"> Deafness, autosomal recessive 100 </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/618422"> 618422 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611648"> PPIP5K2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611648"> 611648 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/417?start=-3&limit=10&highlight=417"> 5q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620238"> Deafness, autosomal recessive 120 </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/620238"> 620238 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620215"> MINAR2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620215"> 620215 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/626?start=-3&limit=10&highlight=626"> 5q32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615837"> ?Deafness, autosomal recessive 101 </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/615837"> 615837 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615762"> GRXCR2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615762"> 615762 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/751?start=-3&limit=10&highlight=751"> 5q35.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600791"> Enlarged vestibular aqueduct </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/600791"> 600791 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601093"> FOXI1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601093"> 601093 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/18?start=-3&limit=10&highlight=18"> 6p25.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613453"> ?Deafness, autosomal recessive 91 </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/613453"> 613453 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/173321"> SERPINB6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/173321"> 173321 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/110?start=-3&limit=10&highlight=110"> 6p22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610212"> ?Deafness, autosomal recessive 66 </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/610212"> 610212 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605755"> DCDC2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605755"> 605755 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/119?start=-3&limit=10&highlight=119"> 6p22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616515"> ?Deafness, autosomal recessive 104 </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/616515"> 616515 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611410"> RIPOR2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611410"> 611410 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/383?start=-3&limit=10&highlight=383"> 6p21.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609706"> Deafness, autosomal recessive 53 </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/609706"> 609706 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120290"> COL11A2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120290"> 120290 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/434?start=-3&limit=10&highlight=434"> 6p21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610265"> Deafness, autosomal recessive 67 </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/610265"> 610265 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609427"> LHFPL5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609427"> 609427 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/549?start=-3&limit=10&highlight=549"> 6p21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616042"> ?Deafness, autosomal recessive 103 </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/616042"> 616042 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607293"> CLIC5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607293"> 607293 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/658?start=-3&limit=10&highlight=658"> 6q14.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607821"> Deafness, autosomal recessive 37 </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/607821"> 607821 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600970"> MYO6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600970"> 600970 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/1006?start=-3&limit=10&highlight=1006"> 6q26-q27 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608219"> Deafness, autosomal recessive 38 </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608219"> 608219 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608219"> DFNB38 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608219"> 608219 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/249?start=-3&limit=10&highlight=249"> 7p12.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610154"> ?Deafness, autosomal recessive 44 </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/610154"> 610154 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/103072"> ADCY1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/103072"> 103072 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/376?start=-3&limit=10&highlight=376"> 7q21.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608265"> Deafness, autosomal recessive 39 </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/608265"> 608265 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/142409"> HGF </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/142409"> 142409 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/558?start=-3&limit=10&highlight=558"> 7q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613865"> ?Deafness, autosomal recessive 61 </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/613865"> 613865 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604943"> SLC26A5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604943"> 604943 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/577?start=-3&limit=10&highlight=577"> 7q22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600791"> Deafness, autosomal recessive 4, with enlarged vestibular aqueduct </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/600791"> 600791 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605646"> SLC26A4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605646"> 605646 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/581?start=-3&limit=10&highlight=581"> 7q31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603678"> Deafness, autosomal recessive 14 </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603678"> 603678 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603678"> DFNB14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603678"> 603678 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/582?start=-3&limit=10&highlight=582"> 7q31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603010"> Deafness, autosomal recessive 17 </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603010"> 603010 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603010"> DFNB17 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603010"> 603010 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/604?start=-3&limit=10&highlight=604"> 7q31.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616705"> ?Deafness, autosomal recessive 97 </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/616705"> 616705 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/164860"> MET </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/164860"> 164860 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/721?start=-3&limit=10&highlight=721"> 7q34-q36 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603098"> Deafness, autosomal recessive 13 </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603098"> 603098 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603098"> DFNB13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603098"> 603098 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/66?start=-3&limit=10&highlight=66"> 8p22-p21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612789"> Deafness, autosomal recessive 71 </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612789"> 612789 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612789"> DFNB71 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612789"> 612789 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/400?start=-3&limit=10&highlight=400"> 8q22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619553"> Deafness, autosomal recessive 118, with cochlear aplasia </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="4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved"> 4 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619553"> 619553 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619553"> DFNB118 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619553"> 619553 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/412?start=-3&limit=10&highlight=412"> 8q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618013"> ?Deafness, autosomal recessive 109 </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/618013"> 618013 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612959"> ESRP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612959"> 612959 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/484?start=-3&limit=10&highlight=484"> 8q23.1-q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620794"> Deafness, autosomal recessive 124 </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/620794"> 620794 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607843"> PKHD1L1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607843"> 607843 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/45?start=-3&limit=10&highlight=45"> 9p23-p21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613685"> Deafness, autosomal recessive 83 </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613685"> 613685 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613685"> DFNB83 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613685"> 613685 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/243?start=-3&limit=10&highlight=243"> 9q21.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600974"> Deafness, autosomal recessive 7 </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/600974"> 600974 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606706"> TMC1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606706"> 606706 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/443?start=-3&limit=10&highlight=443"> 9q32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607084"> Deafness, autosomal recessive 31 </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/607084"> 607084 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607928"> WHRN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607928"> 607928 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/687?start=-3&limit=10&highlight=687"> 9q34.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613307"> Deafness, autosomal recessive 79 </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/613307"> 613307 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613354"> TPRN </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613354"> 613354 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/112?start=-3&limit=10&highlight=112"> 10p12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607101"> Deafness, autosomal recessive 30 </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/607101"> 607101 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606808"> MYO3A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606808"> 606808 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/128?start=-3&limit=10&highlight=128"> 10p11.23-q21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607239"> Deafness, autosomal recessive 33 </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607239"> 607239 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607239"> DFNB33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607239"> 607239 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/209?start=-3&limit=10&highlight=209"> 10q21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609533"> Deafness, autosomal recessive 23 </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/609533"> 609533 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605514"> PCDH15 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605514"> 605514 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/281?start=-3&limit=10&highlight=281"> 10q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601386"> Deafness, autosomal recessive 12 </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/601386"> 601386 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605516"> CDH23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605516"> 605516 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/491?start=-3&limit=10&highlight=491"> 10q24.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618003"> Deafness, autosomal recessive 57 </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/618003"> 618003 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612971"> PDZD7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612971"> 612971 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/39?start=-3&limit=10&highlight=39"> 11p15.5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617637"> Deafness autosomal recessive 106 </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/617637"> 617637 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614988"> EPS8L2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614988"> 614988 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/210?start=-3&limit=10&highlight=210"> 11p15.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602092"> Deafness, autosomal recessive 18A </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/602092"> 602092 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605242"> USH1C </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605242"> 605242 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/211?start=-3&limit=10&highlight=211"> 11p15.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614945"> Deafness, autosomal recessive 18B </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/614945"> 614945 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604487"> OTOG </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604487"> 604487 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/246?start=-3&limit=10&highlight=246"> 11p14.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620877"> ?Deafness, autosomal recessive 125 </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/620877"> 620877 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602835"> GAS2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602835"> 602835 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/273?start=-3&limit=10&highlight=273"> 11p13-p12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609941"> Deafness, autosomal recessive 51 </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609941"> 609941 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609941"> DFNB51 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609941"> 609941 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/670?start=-3&limit=10&highlight=670"> 11q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614899"> Deafness, autosomal recessive 93 </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/614899"> 614899 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607314"> CABP2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607314"> 607314 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/714?start=-3&limit=10&highlight=714"> 11q13.4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611451"> Deafness, autosomal recessive 63 </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/611451"> 611451 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612414"> LRTOMT </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612414"> 612414 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/775?start=-3&limit=10&highlight=775"> 11q13.5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600060"> Deafness, autosomal recessive 2 </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/600060"> 600060 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/276903"> MYO7A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/276903"> 276903 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/792?start=-3&limit=10&highlight=792"> 11q14.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618434"> ?Deafness, autosomal recessive 94 </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/618434"> 618434 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612803"> NARS2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612803"> 612803 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/902?start=-3&limit=10&highlight=902"> 11q22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611022"> Deafness, autosomal recessive 24 </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/611022"> 611022 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/179410"> RDX </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/179410"> 179410 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/980?start=-3&limit=10&highlight=980"> 11q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618145"> Deafness, autosomal recessive 111 </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/618145"> 618145 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604873"> MPZL2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604873"> 604873 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/1026?start=-3&limit=10&highlight=1026"> 11q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603629"> Deafness, autosomal recessive 21 </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/603629"> 603629 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602574"> TECTA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602574"> 602574 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/1096?start=-3&limit=10&highlight=1096"> 11q25-qter </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604060"> Deafness, autosomal recessive 20 </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604060"> 604060 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604060"> DFNB20 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604060"> 604060 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/133?start=-3&limit=10&highlight=133"> 12p13.2-p11.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610143"> Deafness, autosomal recessive 62 </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610143"> 610143 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610143"> DFNB62 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610143"> 610143 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/203?start=-3&limit=10&highlight=203"> 12p12.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615974"> ?Deafness, autosomal recessive 102 </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/615974"> 615974 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600206"> EPS8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600206"> 600206 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/588?start=-3&limit=10&highlight=588"> 12q14.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613718"> Deafness, autosomal recessive 74 </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/613718"> 613718 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613719"> MSRB3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613719"> 613719 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/649?start=-3&limit=10&highlight=649"> 12q21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614944"> Deafness, autosomal recessive 84B </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/614944"> 614944 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614925"> OTOGL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614925"> 614925 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/650?start=-3&limit=10&highlight=650"> 12q21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613391"> Deafness, autosomal recessive 84A </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/613391"> 613391 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603317"> PTPRQ </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603317"> 603317 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/13/15?start=-3&limit=10&highlight=15"> 13q12.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/220290"> Deafness, autosomal recessive 1A </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</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/220290"> 220290 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/121011"> GJB2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/121011"> 121011 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/13/16?start=-3&limit=10&highlight=16"> 13q12.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/220290"> Deafness, digenic GJB2/GJB6 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic dominant">DD</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/220290"> 220290 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604418"> GJB6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604418"> 604418 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/13/16?start=-3&limit=10&highlight=16"> 13q12.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612645"> Deafness, autosomal recessive 1B </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/612645"> 612645 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604418"> GJB6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604418"> 604418 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/13/288?start=-3&limit=10&highlight=288"> 13q32.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620714"> ?Deafness, autosomal recessive 122 </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/620714"> 620714 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618203"> TMTC4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618203"> 618203 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/110?start=-3&limit=10&highlight=110"> 14q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600792"> Deafness, autosomal recessive 5 </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600792"> 600792 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600792"> DFNB5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600792"> 600792 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/149?start=-3&limit=10&highlight=149"> 14q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618094"> ?Deafness, autosomal recessive 110 </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/618094"> 618094 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603196"> COCH </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603196"> 603196 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/407?start=-3&limit=10&highlight=407"> 14q24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608565"> Deafness, autosomal recessive 35 </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/608565"> 608565 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602167"> ESRRB </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602167"> 602167 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/154?start=-3&limit=10&highlight=154"> 15q15.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603720"> Deafness, autosomal recessive 16 </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/603720"> 603720 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606440"> STRC </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606440"> 606440 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/181?start=-3&limit=10&highlight=181"> 15q21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619615"> Deafness, autosomal recessive 119 </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/619615"> 619615 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619578"> AFG2B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619578"> 619578 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/421?start=-3&limit=10&highlight=421"> 15q25.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609439"> Deafness, autosomal recessive 48 </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/609439"> 609439 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605564"> CIB2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605564"> 605564 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/108?start=-3&limit=10&highlight=108"> 16p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614617"> Deafness, autosomal recessive 86 </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/614617"> 614617 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613577"> TBC1D24 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613577"> 613577 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/125?start=-3&limit=10&highlight=125"> 16p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619093"> Deafness, autosomal recessive 116 </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/619093"> 619093 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615799"> CLDN9 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615799"> 615799 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/263?start=-3&limit=10&highlight=263"> 16p12.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607039"> Deafness, autosomal recessive 22 </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/607039"> 607039 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607038"> OTOA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607038"> 607038 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/375?start=-3&limit=10&highlight=375"> 16p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620745"> ?Deafness, autosomal recessive 123 </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/620745"> 620745 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186591"> STX4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/186591"> 186591 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/655?start=-3&limit=10&highlight=655"> 16q23.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613916"> Deafness, autosomal recessive 89 </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/613916"> 613916 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601421"> KARS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601421"> 601421 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/76?start=-3&limit=10&highlight=76"> 17p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618457"> ?Deafness, autosomal recessive 115 </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/618457"> 618457 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612584"> SPNS2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612584"> 612584 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/230?start=-3&limit=10&highlight=230"> 17p12-q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613392"> Deafness, autosomal recessive 85 </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613392"> 613392 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613392"> DFNB85 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613392"> 613392 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/278?start=-3&limit=10&highlight=278"> 17p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600316"> Deafness, autosomal recessive 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/600316"> 600316 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602666"> MYO15A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602666"> 602666 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/292?start=-3&limit=10&highlight=292"> 17p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618456"> Deafness, autosomal recessive 114 </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/618456"> 618456 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604330"> GRAP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604330"> 604330 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/411?start=-3&limit=10&highlight=411"> 17q12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618481"> Deafness, autosomal recessive 99 </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/618481"> 618481 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616178"> TMEM132E </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616178"> 616178 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/955?start=-3&limit=10&highlight=955"> 17q25.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617639"> Deafness, autosomal recessive 107 </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/617639"> 617639 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606962"> WBP2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606962"> 606962 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/18/3?start=-3&limit=10&highlight=3"> 18p11.32-p11.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609647"> Deafness, autosomal recessive 46 </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609647"> 609647 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609647"> DFNB46 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609647"> 609647 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/18/162?start=-3&limit=10&highlight=162"> 18q21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613079"> Deafness, autosomal recessive 77 </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/613079"> 613079 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613072"> LOXHD1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613072"> 613072 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/110?start=-3&limit=10&highlight=110"> 19p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601869"> Deafness, autosomal recessive 15 </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/601869"> 601869 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608792"> GIPC3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608792"> 608792 </a>
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<span class="mim-font">
<a href="/geneMap/19/261?start=-3&limit=10&highlight=261"> 19p13.2 </a>
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</td>
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<span class="mim-font">
<a href="/entry/610419"> Deafness, autosomal recessive 68 </a>
</span>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
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<span class="mim-font">
<a href="/entry/610419"> 610419 </a>
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</td>
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<span class="mim-font">
<a href="/entry/605111"> S1PR2 </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/605111"> 605111 </a>
</span>
</td>
</tr>
<tr>
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<span class="mim-font">
<a href="/geneMap/19/610?start=-3&limit=10&highlight=610"> 19q13.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615540"> Deafness, autosomal recessive 76 </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>
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<span class="mim-font">
<a href="/entry/615540"> 615540 </a>
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</td>
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<span class="mim-font">
<a href="/entry/615535"> SYNE4 </a>
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<span class="mim-font">
<a href="/entry/615535"> 615535 </a>
</span>
</td>
</tr>
<tr>
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<span class="mim-font">
<a href="/geneMap/19/797?start=-3&limit=10&highlight=797"> 19q13.31-q13.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618410"> Deafness, autosomal recessive 113 </a>
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<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>
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<span class="mim-font">
<a href="/entry/618410"> 618410 </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/614591"> CEACAM16 </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/614591"> 614591 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/391?start=-3&limit=10&highlight=391"> 20q13.2-q13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610248"> Deafness, autosomal recessive 65 </a>
</span>
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<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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
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<span class="mim-font">
<a href="/entry/610248"> 610248 </a>
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<span class="mim-font">
<a href="/entry/610248"> DFNB65 </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/610248"> 610248 </a>
</span>
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</tr>
<tr>
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<span class="mim-font">
<a href="/geneMap/21/93?start=-3&limit=10&highlight=93"> 21q22.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614035"> Deafness, autosomal recessive 29 </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/614035"> 614035 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605608"> CLDN14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605608"> 605608 </a>
</span>
</td>
</tr>
<tr>
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<span class="mim-font">
<a href="/geneMap/21/134?start=-3&limit=10&highlight=134"> 21q22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601072"> Deafness, autosomal recessive 8/10 </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>
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<span class="mim-font">
<a href="/entry/601072"> 601072 </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/605511"> TMPRSS3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605511"> 605511 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/21/162?start=-3&limit=10&highlight=162"> 21q22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614861"> ?Deafness, autosomal recessive 98 </a>
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<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>
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<span class="mim-font">
<a href="/entry/614861"> 614861 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612920"> TSPEAR </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/612920"> 612920 </a>
</span>
</td>
</tr>
<tr>
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<span class="mim-font">
<a href="/geneMap/22/15?start=-3&limit=10&highlight=15"> 22q11.21-q12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608264"> Deafness, autosomal recessive 40 </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608264"> 608264 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608264"> DFNB40 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608264"> 608264 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/254?start=-3&limit=10&highlight=254"> 22q13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609823"> Deafness, autosomal recessive 28 </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/609823"> 609823 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609761"> TRIOBP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609761"> 609761 </a>
</span>
</td>
</tr>
</tbody>
</table>
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
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<a id="text" class="mim-anchor"></a>
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because autosomal recessive deafness-48 (DFNB48) is caused by homozygous mutation in the CIB2 gene (<a href="/entry/605564">605564</a>) on chromosome 15q25.</p>
</span>
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<br />
</div>
</div>
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<a id="description" class="mim-anchor"></a>
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<strong>Description</strong>
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<span class="mim-text-font">
<p>DFNB48 is an autosomal recessive form of deafness. Affected individuals have prelingual onset of severe to profound sensorineural hearing loss affecting all frequencies (summary by <a href="#3" class="mim-tip-reference" title="Riazuddin, S., Belyantseva, I. A., Giese, A. P. J., Lee, K., Indzhykulian, A. A., Nandamuri, S. P., Yousaf, R., Sinha, G. P., Lee, S., Terrell, D., Hegde, R. S., Ali, R. A., and 19 others. &lt;strong&gt;Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.&lt;/strong&gt; Nature Genet. 44: 1265-1271, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23023331/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23023331&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=23023331[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.2426&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23023331">Riazuddin et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23023331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
</div>
</div>
<div>
<a id="mapping" class="mim-anchor"></a>
<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimMappingToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
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<strong>Mapping</strong>
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<span class="mim-text-font">
<p>By linkage analysis in 5 large consanguineous Pakistani families with nonsyndromic deafness segregating as an autosomal recessive trait, <a href="#1" class="mim-tip-reference" title="Ahmad, J., Khan, S. N., Khan, S. Y., Ramzan, K., Riazuddin, S., Ahmed, Z. M., Wilcox, E. R., Friedman, T. B., Riazuddin, S. &lt;strong&gt;DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1.&lt;/strong&gt; Hum. Genet. 116: 407-412, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15711797/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15711797&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00439-004-1247-y&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15711797">Ahmad et al. (2005)</a> mapped the phenotype locus to chromosome 15q23-q25.1. Analysis in 1 of the families demonstrated linkage of the deafness locus, designated DFNB48, to D15S1005 (lod score of 8.6 at theta = 0), and a critical linkage interval of approximately 7 cM was defined between D15S216 and D15S1041. Affected individuals had bilateral profound congenital hearing loss. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15711797" 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="Ahmed, Z. M., Riazuddin, S., Khan, S. N., Friedman, P. L., Riazuddin, S., Friedman, T. B. &lt;strong&gt;USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23.&lt;/strong&gt; Clin. Genet. 75: 86-91, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18505454/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18505454&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=18505454[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2008.01038.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18505454">Ahmed et al. (2009)</a> sequenced the TLE3 gene within the DFNB48 locus but did not identify any pathogenic alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18505454" 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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</div>
<div>
<a id="molecularGenetics" class="mim-anchor"></a>
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Molecular Genetics</strong>
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<div id="mimMolecularGeneticsFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>In affected members of 54 Pakistani families with autosomal recessive deafness-48, <a href="#3" class="mim-tip-reference" title="Riazuddin, S., Belyantseva, I. A., Giese, A. P. J., Lee, K., Indzhykulian, A. A., Nandamuri, S. P., Yousaf, R., Sinha, G. P., Lee, S., Terrell, D., Hegde, R. S., Ali, R. A., and 19 others. &lt;strong&gt;Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.&lt;/strong&gt; Nature Genet. 44: 1265-1271, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23023331/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23023331&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=23023331[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.2426&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23023331">Riazuddin et al. (2012)</a> identified a homozygous mutation in the CIB2 gene (F91S; <a href="/entry/605564#0001">605564.0001</a>). Haplotype analysis indicated a founder effect. Two additional homozygous CIB2 mutations were found in other families with DFNB48 (C99W, <a href="/entry/605564#0002">605564.0002</a> and I123T, <a href="/entry/605564#0003">605564.0003</a>). Transfection of the F91S and C99W mutations in COS-7 cells decreased or abolished the ability of CIB2 to decrease ATP-induced calcium release from the cell compared to wildtype, whereas transfection of the I123T mutation increased the ability of CIB2 to decrease calcium release compared to wildtype. These findings suggested that the mutations had an effect on CIB2 calcium-binding or buffering activity, and indicated that loss of this gene results in defects in calcium regulation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23023331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Population Genetics</strong>
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<div id="mimPopulationGeneticsFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#3" class="mim-tip-reference" title="Riazuddin, S., Belyantseva, I. A., Giese, A. P. J., Lee, K., Indzhykulian, A. A., Nandamuri, S. P., Yousaf, R., Sinha, G. P., Lee, S., Terrell, D., Hegde, R. S., Ali, R. A., and 19 others. &lt;strong&gt;Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.&lt;/strong&gt; Nature Genet. 44: 1265-1271, 2012.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23023331/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;23023331&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=23023331[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng.2426&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23023331">Riazuddin et al. (2012)</a> estimated that CIB2 mutations may account for up to 7.25% of Pakistani families with autosomal recessive deafness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23023331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Ahmad2005" class="mim-anchor"></a>
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Ahmad, J., Khan, S. N., Khan, S. Y., Ramzan, K., Riazuddin, S., Ahmed, Z. M., Wilcox, E. R., Friedman, T. B., Riazuddin, S.
<strong>DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1.</strong>
Hum. Genet. 116: 407-412, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15711797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15711797</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15711797" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s00439-004-1247-y" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
<a id="Ahmed2009" class="mim-anchor"></a>
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<p class="mim-text-font">
Ahmed, Z. M., Riazuddin, S., Khan, S. N., Friedman, P. L., Riazuddin, S., Friedman, T. B.
<strong>USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23.</strong>
Clin. Genet. 75: 86-91, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18505454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18505454</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18505454[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=18505454" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.2008.01038.x" target="_blank">Full Text</a>]
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<a id="Riazuddin2012" class="mim-anchor"></a>
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Riazuddin, S., Belyantseva, I. A., Giese, A. P. J., Lee, K., Indzhykulian, A. A., Nandamuri, S. P., Yousaf, R., Sinha, G. P., Lee, S., Terrell, D., Hegde, R. S., Ali, R. A., and 19 others.
<strong>Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.</strong>
Nature Genet. 44: 1265-1271, 2012.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23023331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23023331</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23023331[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=23023331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng.2426" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Cassandra L. Kniffin - updated : 10/15/2012
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Cassandra L. Kniffin - updated : 2/25/2009
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Creation Date:
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Marla J. F. O&#x27;Neill : 6/24/2005
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carol : 06/21/2016
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terry : 11/6/2012<br>carol : 10/15/2012<br>ckniffin : 10/15/2012<br>wwang : 2/25/2009<br>carol : 6/24/2005
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<strong>#</strong> 609439
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DEAFNESS, AUTOSOMAL RECESSIVE 48; DFNB48
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<strong>ORPHA:</strong> 90636; &nbsp;
<strong>DO:</strong> 0110505; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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<th>
Phenotype
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Phenotype <br /> MIM number
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<th>
Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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15q25.1
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Deafness, autosomal recessive 48
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609439
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Autosomal recessive
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3
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CIB2
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605564
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because autosomal recessive deafness-48 (DFNB48) is caused by homozygous mutation in the CIB2 gene (605564) on chromosome 15q25.</p>
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<strong>Description</strong>
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<p>DFNB48 is an autosomal recessive form of deafness. Affected individuals have prelingual onset of severe to profound sensorineural hearing loss affecting all frequencies (summary by Riazuddin et al., 2012). </p>
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<strong>Mapping</strong>
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<p>By linkage analysis in 5 large consanguineous Pakistani families with nonsyndromic deafness segregating as an autosomal recessive trait, Ahmad et al. (2005) mapped the phenotype locus to chromosome 15q23-q25.1. Analysis in 1 of the families demonstrated linkage of the deafness locus, designated DFNB48, to D15S1005 (lod score of 8.6 at theta = 0), and a critical linkage interval of approximately 7 cM was defined between D15S216 and D15S1041. Affected individuals had bilateral profound congenital hearing loss. </p><p>Ahmed et al. (2009) sequenced the TLE3 gene within the DFNB48 locus but did not identify any pathogenic alleles. </p>
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<span class="mim-font">
<strong>Molecular Genetics</strong>
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<p>In affected members of 54 Pakistani families with autosomal recessive deafness-48, Riazuddin et al. (2012) identified a homozygous mutation in the CIB2 gene (F91S; 605564.0001). Haplotype analysis indicated a founder effect. Two additional homozygous CIB2 mutations were found in other families with DFNB48 (C99W, 605564.0002 and I123T, 605564.0003). Transfection of the F91S and C99W mutations in COS-7 cells decreased or abolished the ability of CIB2 to decrease ATP-induced calcium release from the cell compared to wildtype, whereas transfection of the I123T mutation increased the ability of CIB2 to decrease calcium release compared to wildtype. These findings suggested that the mutations had an effect on CIB2 calcium-binding or buffering activity, and indicated that loss of this gene results in defects in calcium regulation. </p>
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<span class="mim-font">
<strong>Population Genetics</strong>
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<span class="mim-text-font">
<p>Riazuddin et al. (2012) estimated that CIB2 mutations may account for up to 7.25% of Pakistani families with autosomal recessive deafness. </p>
</span>
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<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Ahmad, J., Khan, S. N., Khan, S. Y., Ramzan, K., Riazuddin, S., Ahmed, Z. M., Wilcox, E. R., Friedman, T. B., Riazuddin, S.
<strong>DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1.</strong>
Hum. Genet. 116: 407-412, 2005.
[PubMed: 15711797]
[Full Text: https://doi.org/10.1007/s00439-004-1247-y]
</p>
</li>
<li>
<p class="mim-text-font">
Ahmed, Z. M., Riazuddin, S., Khan, S. N., Friedman, P. L., Riazuddin, S., Friedman, T. B.
<strong>USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23.</strong>
Clin. Genet. 75: 86-91, 2009.
[PubMed: 18505454]
[Full Text: https://doi.org/10.1111/j.1399-0004.2008.01038.x]
</p>
</li>
<li>
<p class="mim-text-font">
Riazuddin, S., Belyantseva, I. A., Giese, A. P. J., Lee, K., Indzhykulian, A. A., Nandamuri, S. P., Yousaf, R., Sinha, G. P., Lee, S., Terrell, D., Hegde, R. S., Ali, R. A., and 19 others.
<strong>Alterations of the CIB2 calcium- and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48.</strong>
Nature Genet. 44: 1265-1271, 2012.
[PubMed: 23023331]
[Full Text: https://doi.org/10.1038/ng.2426]
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Contributors:
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Cassandra L. Kniffin - updated : 10/15/2012<br>Cassandra L. Kniffin - updated : 2/25/2009
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Marla J. F. O&#x27;Neill : 6/24/2005
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carol : 06/21/2016<br>terry : 11/6/2012<br>carol : 10/15/2012<br>ckniffin : 10/15/2012<br>wwang : 2/25/2009<br>carol : 6/24/2005
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