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Entry
- #600316 - DEAFNESS, AUTOSOMAL RECESSIVE 3; DFNB3
- OMIM
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<span class="h4">#600316</span>
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<strong>Table of Contents</strong>
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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/600316"><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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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#populationGenetics">Population Genetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(DEAFNESS, AUTOSOMAL RECESSIVE) OR (MYO15A)" 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/books/NBK1434/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
<div><a href="https://www.diseaseinfosearch.org/x/8169" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=600316[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 style="display: table-cell;">Animal Models</div>
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<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0110488" 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/600316" 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:0110488" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span 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;
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<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> 0110488<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>
600316
</span>
</span>
</div>
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<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
DEAFNESS, AUTOSOMAL RECESSIVE 3; DFNB3
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
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<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
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<h4>
<span class="mim-font">
NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3; NSRD3
</span>
</h4>
</div>
</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/17/278?start=-3&limit=10&highlight=278">
17p11.2
</a>
</span>
</td>
<td>
<span class="mim-font">
Deafness, autosomal recessive 3
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600316"> 600316 </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">
MYO15A
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602666"> 602666 </a>
</span>
</td>
</tr>
</tbody>
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<a href="/clinicalSynopsis/600316" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<li><a href="/graph/linear/600316" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/600316" 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 />
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
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<div>
<span class="h5 mim-font">
<strong> Ears </strong>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Profound, congenital, neurosensory, nonsyndromal deafness<br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> Inheritance </strong>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Autosomal recessive (17p12-q12) <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>
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<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
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<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, 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/1/98?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/1/423?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/1/682?start=-3&limit=10&highlight=682"> 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/1/838?start=-3&limit=10&highlight=838"> 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/1/1307?start=-3&limit=10&highlight=1307"> 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/1/1825?start=-3&limit=10&highlight=1825"> 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"> 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/2/108?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/2/269?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/3/582?start=-3&limit=10&highlight=582"> 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/3/597?start=-3&limit=10&highlight=597"> 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>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/261?start=-3&limit=10&highlight=261"> 19p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610419"> Deafness, autosomal recessive 68 </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/610419"> 610419 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605111"> S1PR2 </a>
</span>
</td>
<td>
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<a href="/entry/605111"> 605111 </a>
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<a href="/geneMap/19/610?start=-3&limit=10&highlight=610"> 19q13.12 </a>
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<span class="mim-font">
<a href="/entry/615540"> Deafness, autosomal recessive 76 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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>
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<span class="mim-font">
<a href="/entry/615540"> 615540 </a>
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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>
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<span class="mim-font">
<a href="/geneMap/19/797?start=-3&limit=10&highlight=797"> 19q13.31-q13.32 </a>
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<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>
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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>
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<span class="mim-font">
<a href="/entry/618410"> 618410 </a>
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<a href="/entry/614591"> CEACAM16 </a>
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<span class="mim-font">
<a href="/entry/614591"> 614591 </a>
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<span class="mim-font">
<a href="/geneMap/20/391?start=-3&limit=10&highlight=391"> 20q13.2-q13.3 </a>
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<span class="mim-font">
<a href="/entry/610248"> Deafness, autosomal recessive 65 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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<a href="/entry/610248"> 610248 </a>
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<a href="/entry/610248"> DFNB65 </a>
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<span class="mim-font">
<a href="/entry/610248"> 610248 </a>
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<a href="/geneMap/21/93?start=-3&limit=10&highlight=93"> 21q22.13 </a>
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<span class="mim-font">
<a href="/entry/614035"> Deafness, autosomal recessive 29 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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/614035"> 614035 </a>
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<span class="mim-font">
<a href="/entry/605608"> CLDN14 </a>
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<span class="mim-font">
<a href="/entry/605608"> 605608 </a>
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<span class="mim-font">
<a href="/geneMap/21/134?start=-3&limit=10&highlight=134"> 21q22.3 </a>
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<span class="mim-font">
<a href="/entry/601072"> Deafness, autosomal recessive 8/10 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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>
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<span class="mim-font">
<a href="/entry/601072"> 601072 </a>
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<span class="mim-font">
<a href="/entry/605511"> TMPRSS3 </a>
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<span class="mim-font">
<a href="/entry/605511"> 605511 </a>
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<span class="mim-font">
<a href="/geneMap/21/162?start=-3&limit=10&highlight=162"> 21q22.3 </a>
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<span class="mim-font">
<a href="/entry/614861"> ?Deafness, autosomal recessive 98 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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>
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<span class="mim-font">
<a href="/entry/614861"> 614861 </a>
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<span class="mim-font">
<a href="/entry/612920"> TSPEAR </a>
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<span class="mim-font">
<a href="/entry/612920"> 612920 </a>
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<span class="mim-font">
<a href="/geneMap/22/15?start=-3&limit=10&highlight=15"> 22q11.21-q12.1 </a>
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<span class="mim-font">
<a href="/entry/608264"> Deafness, autosomal recessive 40 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
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<span class="mim-font">
<a href="/entry/608264"> 608264 </a>
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<span class="mim-font">
<a href="/entry/608264"> DFNB40 </a>
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<span class="mim-font">
<a href="/entry/608264"> 608264 </a>
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<span class="mim-font">
<a href="/geneMap/22/254?start=-3&limit=10&highlight=254"> 22q13.1 </a>
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<span class="mim-font">
<a href="/entry/609823"> Deafness, autosomal recessive 28 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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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/609823"> 609823 </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/609761"> TRIOBP </a>
</span>
</td>
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<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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<p>A number sign (#) is used with this entry because of evidence that autosomal recessive deafness-3 (DFNB3) is caused by homozygous or compound heterozygous mutation in the gene encoding unconventional myosin XVA (MYO15A; <a href="/entry/602666">602666</a>) on chromosome 17p11.</p>
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<a id="description" class="mim-anchor"></a>
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<strong>Description</strong>
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<p>Autosomal recessive deafness-3 (DFNB3) is a congenital, profound, neurosensory deafness. There are no apparent vestibular abnormalities or dysmorphic features (<a href="#3" class="mim-tip-reference" title="Friedman, T. B., Liang, Y., Weber, J. L., Hinnant, J. T., Barber, T. D., Winata, S., Arhya, I. N., Asher, J. H., Jr. &lt;strong&gt;A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17.&lt;/strong&gt; Nature Genet. 9: 86-91, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7704031/&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;7704031&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0195-86&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="7704031">Friedman et al., 1995</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7704031" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Clinical Features</strong>
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<p><a href="#3" class="mim-tip-reference" title="Friedman, T. B., Liang, Y., Weber, J. L., Hinnant, J. T., Barber, T. D., Winata, S., Arhya, I. N., Asher, J. H., Jr. &lt;strong&gt;A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17.&lt;/strong&gt; Nature Genet. 9: 86-91, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7704031/&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;7704031&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0195-86&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="7704031">Friedman et al. (1995)</a> reported that 2% of the residents of Bengkala, an Indonesian village on the north shore of Bali, have profound, congenital, neurosensory, nonsyndromal deafness due to an autosomal recessive mutation at a locus designated DFNB3 (for the third autosomal recessive, nonsyndromic deafness locus to be mapped). This remote village dates to at least the 13th century as documented by charters inscribed in Sanskrit on metallic plates. Of the 2,185 residents, 47 had profound deafness of the type described. As an adaptation to the high percentage of deaf individuals, the citizens of Bengkala had developed a unique sign language used by most of the hearing persons as well as the deaf villagers. Deaf couples produced all deaf progeny. In 4- and 5-generation Bengkala kindreds, 2 of which were illustrated, there were no consanguineous marriages. The deaf individuals had no apparent vestibular abnormalities or dysmorphic features. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7704031" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="inheritance" class="mim-anchor"></a>
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<strong>Inheritance</strong>
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</h4>
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<p>The transmission pattern of DFNB3 in the families reported by <a href="#9" class="mim-tip-reference" title="Wang, A., Liang, Y., Fridell, R. A., Probst, F. J., Wilcox, E. R., Touchman, J. W., Morton, C. C., Morell, R. J., Noben-Trauth, K., Camper, S. A., Friedman, T. B. &lt;strong&gt;Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.&lt;/strong&gt; Science 280: 1447-1451, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9603736/&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;9603736&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.280.5368.1447&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="9603736">Wang et al. (1998)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9603736" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="mapping" class="mim-anchor"></a>
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<strong>Mapping</strong>
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<p><a href="#3" class="mim-tip-reference" title="Friedman, T. B., Liang, Y., Weber, J. L., Hinnant, J. T., Barber, T. D., Winata, S., Arhya, I. N., Asher, J. H., Jr. &lt;strong&gt;A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17.&lt;/strong&gt; Nature Genet. 9: 86-91, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7704031/&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;7704031&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0195-86&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="7704031">Friedman et al. (1995)</a> used a direct genomewide disequilibrium search strategy, allele-frequency-dependent homozygosity mapping (AHM), and analysis of historical recombinants to map DFNB3 and position the locus relative to flanking markers. They found that DFNB3 maps to chromosome 17. In individuals homozygous for DFNB3, historical recombinant phenotypes for the flanking markers D17S122 and D17S783 placed DFNB3 in a 5.3-cM interval of the pericentromeric region of chromosome 17 (17p12-q12). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7704031" 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>With new short tandem repeats (STRs) from the DFNB3 region and additional DNA samples from affected individuals from Bengkala, Bali, Liang et al. (<a href="#5" class="mim-tip-reference" title="Liang, Y., Wang, A., Morell, R., Wilcox, E., Jain, P., Li, X. C., Negrini, C., Deshmukh, D., Lupski, J. R., Chen, K.-S., Hinnant, J. T., Barber, T., Winata, S., Arhya, I. N., Moeljopawiro, S., Friedman, T. B. &lt;strong&gt;Nonsyndromic recessive deafness segregating with different haplotypes in families from Bali and India mapped to the 4 cM DFNB3 region of 17p11.2. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 61 (suppl.): A282 only, 1997."None>1997</a>, <a href="#6" class="mim-tip-reference" title="Liang, Y., Wang, A., Probst, F. J., Arhya, I. N., Barber, T. D., Chen, K.-S., Deshmukh, D., Dolan, D. F., Hinnant, J. T., Carter, L. E., Jain, P. K., Lalwani, A. K., and 9 others. &lt;strong&gt;Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2.&lt;/strong&gt; Am. J. Hum. Genet. 62: 904-915, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9529344/&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;9529344&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/301786&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="9529344">1998</a>) found 2 historical recombinants for marker D17S953 from the telomeric side of 17p11.2 and 5 historical recombinants for marker D17S2201 on the centromeric side of 17p11.2. These recombinants further delimited the DFNB3 critical region to less than 4 cM within the Smith-Magenis syndrome common deletion region (<a href="/entry/182290">182290</a>), for which there were good physical maps. Liang et al. (<a href="#5" class="mim-tip-reference" title="Liang, Y., Wang, A., Morell, R., Wilcox, E., Jain, P., Li, X. C., Negrini, C., Deshmukh, D., Lupski, J. R., Chen, K.-S., Hinnant, J. T., Barber, T., Winata, S., Arhya, I. N., Moeljopawiro, S., Friedman, T. B. &lt;strong&gt;Nonsyndromic recessive deafness segregating with different haplotypes in families from Bali and India mapped to the 4 cM DFNB3 region of 17p11.2. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 61 (suppl.): A282 only, 1997."None>1997</a>, <a href="#6" class="mim-tip-reference" title="Liang, Y., Wang, A., Probst, F. J., Arhya, I. N., Barber, T. D., Chen, K.-S., Deshmukh, D., Dolan, D. F., Hinnant, J. T., Carter, L. E., Jain, P. K., Lalwani, A. K., and 9 others. &lt;strong&gt;Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2.&lt;/strong&gt; Am. J. Hum. Genet. 62: 904-915, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9529344/&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;9529344&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/301786&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="9529344">1998</a>) also had evidence that mutations in DFNB3 are responsible for recessive deafness outside of Bali. Nonsyndromic congenital recessive deafness in 2 unrelated consanguineous families in India were also linked to the DFNB3 region. The haplotypes of affected individuals in these 2 Indian families were different from each other and different from the Bengkala haplotype, suggesting that these 3 DFNB3 mutations arose independently. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9529344" 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>
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<p><a href="#10" class="mim-tip-reference" title="Winata, S., Arhya, I. N., Moeljopawiro, S., Hinnant, J. T., Liang, Y., Friedman, T. B., Asher, J. H., Jr. &lt;strong&gt;Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village.&lt;/strong&gt; J. Med. Genet. 32: 336-343, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7616538/&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;7616538&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.32.5.336&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="7616538">Winata et al. (1995)</a> studied further the congenital deafness prevalent in the Bengkala village population. They estimated the frequency of the DFNB3 mutant allele to be 9.4% among hearing people, who have a 17.2% chance of being heterozygotes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7616538" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected individuals from a kindred in Bengkala, Bali, with autosomal recessive deafness-3, <a href="#9" class="mim-tip-reference" title="Wang, A., Liang, Y., Fridell, R. A., Probst, F. J., Wilcox, E. R., Touchman, J. W., Morton, C. C., Morell, R. J., Noben-Trauth, K., Camper, S. A., Friedman, T. B. &lt;strong&gt;Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.&lt;/strong&gt; Science 280: 1447-1451, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9603736/&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;9603736&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.280.5368.1447&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="9603736">Wang et al. (1998)</a> identified homozygosity for a missense mutation (I892F; <a href="/entry/602666#0001">602666.0001</a>) in the MYO15 gene. In 2 unrelated Indian families, <a href="#9" class="mim-tip-reference" title="Wang, A., Liang, Y., Fridell, R. A., Probst, F. J., Wilcox, E. R., Touchman, J. W., Morton, C. C., Morell, R. J., Noben-Trauth, K., Camper, S. A., Friedman, T. B. &lt;strong&gt;Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.&lt;/strong&gt; Science 280: 1447-1451, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9603736/&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;9603736&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.280.5368.1447&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="9603736">Wang et al. (1998)</a> identified a homozygous missense (N890Y; <a href="/entry/602666#0002">602666.0002</a>) and nonsense (K1300X; <a href="/entry/602666#0003">602666.0003</a>) mutation, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9603736" 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><strong><em>Intrafamilial Heterogeneity</em></strong></p><p>
In a large multigenerational consanguineous Brazilian pedigree with prelingual severe to profound sensorineural deafness, negative for mutations in the deafness-associated GJB2 (<a href="/entry/121011">121011</a>) and GJB6 (<a href="/entry/604418">604418</a>) genes and for the A1555G mitochondrial mutation in the MTRNR1 gene (<a href="/entry/561000#0001">561000.0001</a>), <a href="#4" class="mim-tip-reference" title="Lezirovitz, K., Pardono, E., de Mello Auricchio, M. T. B., de Carvalho e Silva, F. L., Lopes, J. J., Abreu-Silva, R. S., Romanos, J., Batissoco, A. C., Mingroni-Netto, R. C. &lt;strong&gt;Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness.&lt;/strong&gt; Europ. J. Hum. Genet. 16: 89-96, 2008. Note: Erratum: Europ. J. Hum. Genet. 16: 660 only, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17851452/&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;17851452&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/sj.ejhg.5201917&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="17851452">Lezirovitz et al. (2008)</a> identified unexpected genetic heterogeneity: 15 affected individuals from 'branch 2' of the family were homozygous for a 1-bp deletion (10573delA; <a href="/entry/602666#0012">602666.0012</a>) in the MYO15A gene, whereas 4 affected sibs from 'branch 1' and 1 individual from 'branch 2' were compound heterozygous for 10573delA and a 4-bp deletion (<a href="/entry/602666#0013">602666.0013</a>) in MYO15A. In 1 patient, only the 10573delA mutation could be identified. No mutations in MYO15A were identified in 5 patients from 2 additional branches of the family: the 3 mutation-negative patients from 'branch 4' of the family had a distinct clinical presentation, with 2 having mental retardation and 1 a mixed hearing loss, whereas the 2 mutation-negative patients from 'branch 3' had a phenotype similar to that of their mutation-positive relatives. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17851452" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a consanguineous Turkish family (family 2450) in which 2 brothers and a sister had bilateral profound prelingual hearing loss and were negative for mutation in GJB2, <a href="#8" class="mim-tip-reference" title="Ramzan, M., Zafeer, M. F., Abad, C., Guo, S., Owrang, D., Alper, O., Mutlu, A., Atik, T., Duman, D., Bademci, G., Vona, B., Kalcioglu, M. T., Walz, K., Tekin, M. &lt;strong&gt;Genetic heterogeneity in hereditary hearing loss: potential role of kinociliary protein TOGARAM2.&lt;/strong&gt; Europ. J. Hum. Genet. 32: 639-646, 2024.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/38374469/&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;38374469&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/s41431-024-01562-6&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="38374469">Ramzan et al. (2024)</a> identified homozygosity for a missense mutation (S1481P) in the MYO15A gene in 2 of the affected sibs (II-1 and II-3). However, the other affected sib (II-2) did not carry the MYO15A variant, but was found to be homozygous for a nonsense mutation in the TOGARAM2 gene (Q515X; <a href="/entry/620949">620949</a>); sib II-1 was heterozygous for the Q515X variant, whereas II-3 did not carry the TOGARAM2 variant. Their unaffected parents were first cousins; their father was heterozygous for both mutations, but the mutation status of their mother was not reported. The authors noted that the same MYO15A S1481P mutation previously had been identified in a Turkish family with autosomal recessive nonsyndromic sensorineural deafness by <a href="#2" class="mim-tip-reference" title="Cengiz, F. B., Duman, D., Sirmaci, A., Tokgoz-Yilmaz, S., Erbek, S., Ozturkmen-Akay, H., Incesulu, A., Edwards, Y. J. K., Ozdag, H., Liu, X. Z., Tekin, M. &lt;strong&gt;Recurrent and private MYO15A mutations are associated with deafness in the Turkish population.&lt;/strong&gt; Genet. Test. Molec. Biomarkers 14: 543-550, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20642360/&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;20642360&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1089/gtmb.2010.0039&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="20642360">Cengiz et al. (2010)</a>. <a href="#8" class="mim-tip-reference" title="Ramzan, M., Zafeer, M. F., Abad, C., Guo, S., Owrang, D., Alper, O., Mutlu, A., Atik, T., Duman, D., Bademci, G., Vona, B., Kalcioglu, M. T., Walz, K., Tekin, M. &lt;strong&gt;Genetic heterogeneity in hereditary hearing loss: potential role of kinociliary protein TOGARAM2.&lt;/strong&gt; Europ. J. Hum. Genet. 32: 639-646, 2024.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/38374469/&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;38374469&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/s41431-024-01562-6&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="38374469">Ramzan et al. (2024)</a> concluded that variants in a single deafness-associated gene may not explain hearing loss in all affected members of a family, and that affected individuals may need to be analyzed separately. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=38374469+20642360" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Liang, Y., Wang, A., Probst, F. J., Arhya, I. N., Barber, T. D., Chen, K.-S., Deshmukh, D., Dolan, D. F., Hinnant, J. T., Carter, L. E., Jain, P. K., Lalwani, A. K., and 9 others. &lt;strong&gt;Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2.&lt;/strong&gt; Am. J. Hum. Genet. 62: 904-915, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9529344/&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;9529344&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/301786&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="9529344">Liang et al. (1998)</a> proposed, on the basis of conserved synteny, that the recessive mouse deafness mutations 'shaker-2' (sh2) and sh2(j) are models of DFNB3. Genetic mapping of sh2 refined the location to a 0.6-cM interval of mouse chromosome 11. Three homologous genes map within the sh2 and DFNB3 intervals, suggesting that sh2 is the homolog of DFNB3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9529344" 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="#7" class="mim-tip-reference" title="Probst, F. J., Fridell, R. A., Raphael, Y., Saunders, T. L., Wang, A., Liang, Y., Morell, R. J., Touchman, J. W., Lyons, R. H., Noben-Trauth, K., Friedman, T. B., Camper, S. A. &lt;strong&gt;Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene.&lt;/strong&gt; Science 280: 1444-1447, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9603735/&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;9603735&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.280.5368.1444&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="9603735">Probst et al. (1998)</a> demonstrated that deafness in shaker-2 mice was corrected by a bacterial artificial chromosome (BAC) transgene containing the unconventional myosin XVA (MYO15A; <a href="/entry/602666">602666</a>). Because of its location in a region of homology of synteny to 17p, shaker-2 was thought to be the homolog of DFNB3. <a href="#9" class="mim-tip-reference" title="Wang, A., Liang, Y., Fridell, R. A., Probst, F. J., Wilcox, E. R., Touchman, J. W., Morton, C. C., Morell, R. J., Noben-Trauth, K., Camper, S. A., Friedman, T. B. &lt;strong&gt;Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.&lt;/strong&gt; Science 280: 1447-1451, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9603736/&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;9603736&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1126/science.280.5368.1447&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="9603736">Wang et al. (1998)</a> demonstrated that this was indeed the case by finding mutations of MYO15A in consanguineous Bengkala and Indian families. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9603735+9603736" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Anderson, D. W., Probst, F. J., Belyantseva, I. A., Fridell, R. A., Beyer, L., Martin, D. M., Wu, D., Kachar, B., Friedman, T. B., Raphael, Y., Camper, S. A. &lt;strong&gt;The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells.&lt;/strong&gt; Hum. Molec. Genet. 9: 1729-1738, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10915760/&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;10915760&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/9.12.1729&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="10915760">Anderson et al. (2000)</a> described the shaker-2(J) lesion, which is a 14.7-kb deletion that removes the last 6 exons from the 3-prime terminus of the Myo15 transcript. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10915760" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="1" class="mim-anchor"></a>
<a id="Anderson2000" class="mim-anchor"></a>
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Anderson, D. W., Probst, F. J., Belyantseva, I. A., Fridell, R. A., Beyer, L., Martin, D. M., Wu, D., Kachar, B., Friedman, T. B., Raphael, Y., Camper, S. A.
<strong>The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells.</strong>
Hum. Molec. Genet. 9: 1729-1738, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10915760/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10915760</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10915760" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/9.12.1729" target="_blank">Full Text</a>]
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<a id="Cengiz2010" class="mim-anchor"></a>
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Cengiz, F. B., Duman, D., Sirmaci, A., Tokgoz-Yilmaz, S., Erbek, S., Ozturkmen-Akay, H., Incesulu, A., Edwards, Y. J. K., Ozdag, H., Liu, X. Z., Tekin, M.
<strong>Recurrent and private MYO15A mutations are associated with deafness in the Turkish population.</strong>
Genet. Test. Molec. Biomarkers 14: 543-550, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20642360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20642360</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20642360" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1089/gtmb.2010.0039" target="_blank">Full Text</a>]
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Friedman, T. B., Liang, Y., Weber, J. L., Hinnant, J. T., Barber, T. D., Winata, S., Arhya, I. N., Asher, J. H., Jr.
<strong>A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17.</strong>
Nature Genet. 9: 86-91, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7704031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7704031</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7704031" 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/ng0195-86" target="_blank">Full Text</a>]
</p>
</div>
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<a id="4" class="mim-anchor"></a>
<a id="Lezirovitz2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lezirovitz, K., Pardono, E., de Mello Auricchio, M. T. B., de Carvalho e Silva, F. L., Lopes, J. J., Abreu-Silva, R. S., Romanos, J., Batissoco, A. C., Mingroni-Netto, R. C.
<strong>Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness.</strong>
Europ. J. Hum. Genet. 16: 89-96, 2008. Note: Erratum: Europ. J. Hum. Genet. 16: 660 only, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17851452/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17851452</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17851452" 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/sj.ejhg.5201917" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
<a id="Liang1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Liang, Y., Wang, A., Morell, R., Wilcox, E., Jain, P., Li, X. C., Negrini, C., Deshmukh, D., Lupski, J. R., Chen, K.-S., Hinnant, J. T., Barber, T., Winata, S., Arhya, I. N., Moeljopawiro, S., Friedman, T. B.
<strong>Nonsyndromic recessive deafness segregating with different haplotypes in families from Bali and India mapped to the 4 cM DFNB3 region of 17p11.2. (Abstract)</strong>
Am. J. Hum. Genet. 61 (suppl.): A282 only, 1997.
</p>
</div>
</li>
<li>
<a id="6" class="mim-anchor"></a>
<a id="Liang1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Liang, Y., Wang, A., Probst, F. J., Arhya, I. N., Barber, T. D., Chen, K.-S., Deshmukh, D., Dolan, D. F., Hinnant, J. T., Carter, L. E., Jain, P. K., Lalwani, A. K., and 9 others.
<strong>Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2.</strong>
Am. J. Hum. Genet. 62: 904-915, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9529344/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9529344</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9529344" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/301786" target="_blank">Full Text</a>]
</p>
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<a id="7" class="mim-anchor"></a>
<a id="Probst1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Probst, F. J., Fridell, R. A., Raphael, Y., Saunders, T. L., Wang, A., Liang, Y., Morell, R. J., Touchman, J. W., Lyons, R. H., Noben-Trauth, K., Friedman, T. B., Camper, S. A.
<strong>Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene.</strong>
Science 280: 1444-1447, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9603735/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9603735</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9603735" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1126/science.280.5368.1444" target="_blank">Full Text</a>]
</p>
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<a id="8" class="mim-anchor"></a>
<a id="Ramzan2024" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ramzan, M., Zafeer, M. F., Abad, C., Guo, S., Owrang, D., Alper, O., Mutlu, A., Atik, T., Duman, D., Bademci, G., Vona, B., Kalcioglu, M. T., Walz, K., Tekin, M.
<strong>Genetic heterogeneity in hereditary hearing loss: potential role of kinociliary protein TOGARAM2.</strong>
Europ. J. Hum. Genet. 32: 639-646, 2024.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/38374469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">38374469</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=38374469" 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/s41431-024-01562-6" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="9" class="mim-anchor"></a>
<a id="Wang1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wang, A., Liang, Y., Fridell, R. A., Probst, F. J., Wilcox, E. R., Touchman, J. W., Morton, C. C., Morell, R. J., Noben-Trauth, K., Camper, S. A., Friedman, T. B.
<strong>Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.</strong>
Science 280: 1447-1451, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9603736/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9603736</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9603736" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1126/science.280.5368.1447" target="_blank">Full Text</a>]
</p>
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<a id="10" class="mim-anchor"></a>
<a id="Winata1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Winata, S., Arhya, I. N., Moeljopawiro, S., Hinnant, J. T., Liang, Y., Friedman, T. B., Asher, J. H., Jr.
<strong>Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village.</strong>
J. Med. Genet. 32: 336-343, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7616538/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7616538</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7616538" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.32.5.336" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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Marla J. F. O'Neill - updated : 11/25/2024
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Marla J. F. O'Neill - updated : 5/6/2008<br>George E. Tiller - updated : 9/21/2000<br>Victor A. McKusick - updated : 5/26/1998<br>Victor A. McKusick - updated : 5/13/1998<br>Victor A. McKusick - updated : 11/4/1997
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Creation Date:
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Victor A. McKusick : 1/20/1995
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alopez : 11/25/2024
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alopez : 06/20/2024<br>alopez : 05/01/2024<br>carol : 07/11/2023<br>carol : 04/28/2022<br>carol : 06/21/2016<br>terry : 8/9/2012<br>carol : 1/10/2011<br>alopez : 6/25/2009<br>terry : 12/12/2008<br>carol : 5/7/2008<br>terry : 5/6/2008<br>carol : 6/14/2001<br>alopez : 9/21/2000<br>alopez : 9/21/2000<br>dkim : 12/10/1998<br>dkim : 10/12/1998<br>alopez : 5/28/1998<br>terry : 5/26/1998<br>alopez : 5/20/1998<br>terry : 5/13/1998<br>terry : 5/13/1998<br>mark : 11/4/1997<br>terry : 11/4/1997<br>terry : 11/4/1997<br>joanna : 8/14/1997<br>alopez : 7/30/1997<br>alopez : 7/8/1997<br>alopez : 3/19/1997<br>mimadm : 9/23/1995<br>mark : 6/21/1995<br>carol : 1/20/1995
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<h3>
<span class="mim-font">
<strong>#</strong> 600316
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DEAFNESS, AUTOSOMAL RECESSIVE 3; DFNB3
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<em>Alternative titles; symbols</em>
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NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 3; NSRD3
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<strong>ORPHA:</strong> 90636; &nbsp;
<strong>DO:</strong> 0110488; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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17p11.2
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Deafness, autosomal recessive 3
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600316
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Autosomal recessive
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3
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MYO15A
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602666
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that autosomal recessive deafness-3 (DFNB3) is caused by homozygous or compound heterozygous mutation in the gene encoding unconventional myosin XVA (MYO15A; 602666) on chromosome 17p11.</p>
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<strong>Description</strong>
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<p>Autosomal recessive deafness-3 (DFNB3) is a congenital, profound, neurosensory deafness. There are no apparent vestibular abnormalities or dysmorphic features (Friedman et al., 1995). </p>
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<strong>Clinical Features</strong>
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<p>Friedman et al. (1995) reported that 2% of the residents of Bengkala, an Indonesian village on the north shore of Bali, have profound, congenital, neurosensory, nonsyndromal deafness due to an autosomal recessive mutation at a locus designated DFNB3 (for the third autosomal recessive, nonsyndromic deafness locus to be mapped). This remote village dates to at least the 13th century as documented by charters inscribed in Sanskrit on metallic plates. Of the 2,185 residents, 47 had profound deafness of the type described. As an adaptation to the high percentage of deaf individuals, the citizens of Bengkala had developed a unique sign language used by most of the hearing persons as well as the deaf villagers. Deaf couples produced all deaf progeny. In 4- and 5-generation Bengkala kindreds, 2 of which were illustrated, there were no consanguineous marriages. The deaf individuals had no apparent vestibular abnormalities or dysmorphic features. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of DFNB3 in the families reported by Wang et al. (1998) was consistent with autosomal recessive inheritance. </p>
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<strong>Mapping</strong>
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<p>Friedman et al. (1995) used a direct genomewide disequilibrium search strategy, allele-frequency-dependent homozygosity mapping (AHM), and analysis of historical recombinants to map DFNB3 and position the locus relative to flanking markers. They found that DFNB3 maps to chromosome 17. In individuals homozygous for DFNB3, historical recombinant phenotypes for the flanking markers D17S122 and D17S783 placed DFNB3 in a 5.3-cM interval of the pericentromeric region of chromosome 17 (17p12-q12). </p><p>With new short tandem repeats (STRs) from the DFNB3 region and additional DNA samples from affected individuals from Bengkala, Bali, Liang et al. (1997, 1998) found 2 historical recombinants for marker D17S953 from the telomeric side of 17p11.2 and 5 historical recombinants for marker D17S2201 on the centromeric side of 17p11.2. These recombinants further delimited the DFNB3 critical region to less than 4 cM within the Smith-Magenis syndrome common deletion region (182290), for which there were good physical maps. Liang et al. (1997, 1998) also had evidence that mutations in DFNB3 are responsible for recessive deafness outside of Bali. Nonsyndromic congenital recessive deafness in 2 unrelated consanguineous families in India were also linked to the DFNB3 region. The haplotypes of affected individuals in these 2 Indian families were different from each other and different from the Bengkala haplotype, suggesting that these 3 DFNB3 mutations arose independently. </p>
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<h4>
<span class="mim-font">
<strong>Population Genetics</strong>
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<p>Winata et al. (1995) studied further the congenital deafness prevalent in the Bengkala village population. They estimated the frequency of the DFNB3 mutant allele to be 9.4% among hearing people, who have a 17.2% chance of being heterozygotes. </p>
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<span class="mim-font">
<strong>Molecular Genetics</strong>
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<p>In affected individuals from a kindred in Bengkala, Bali, with autosomal recessive deafness-3, Wang et al. (1998) identified homozygosity for a missense mutation (I892F; 602666.0001) in the MYO15 gene. In 2 unrelated Indian families, Wang et al. (1998) identified a homozygous missense (N890Y; 602666.0002) and nonsense (K1300X; 602666.0003) mutation, respectively. </p><p><strong><em>Intrafamilial Heterogeneity</em></strong></p><p>
In a large multigenerational consanguineous Brazilian pedigree with prelingual severe to profound sensorineural deafness, negative for mutations in the deafness-associated GJB2 (121011) and GJB6 (604418) genes and for the A1555G mitochondrial mutation in the MTRNR1 gene (561000.0001), Lezirovitz et al. (2008) identified unexpected genetic heterogeneity: 15 affected individuals from 'branch 2' of the family were homozygous for a 1-bp deletion (10573delA; 602666.0012) in the MYO15A gene, whereas 4 affected sibs from 'branch 1' and 1 individual from 'branch 2' were compound heterozygous for 10573delA and a 4-bp deletion (602666.0013) in MYO15A. In 1 patient, only the 10573delA mutation could be identified. No mutations in MYO15A were identified in 5 patients from 2 additional branches of the family: the 3 mutation-negative patients from 'branch 4' of the family had a distinct clinical presentation, with 2 having mental retardation and 1 a mixed hearing loss, whereas the 2 mutation-negative patients from 'branch 3' had a phenotype similar to that of their mutation-positive relatives. </p><p>In a consanguineous Turkish family (family 2450) in which 2 brothers and a sister had bilateral profound prelingual hearing loss and were negative for mutation in GJB2, Ramzan et al. (2024) identified homozygosity for a missense mutation (S1481P) in the MYO15A gene in 2 of the affected sibs (II-1 and II-3). However, the other affected sib (II-2) did not carry the MYO15A variant, but was found to be homozygous for a nonsense mutation in the TOGARAM2 gene (Q515X; 620949); sib II-1 was heterozygous for the Q515X variant, whereas II-3 did not carry the TOGARAM2 variant. Their unaffected parents were first cousins; their father was heterozygous for both mutations, but the mutation status of their mother was not reported. The authors noted that the same MYO15A S1481P mutation previously had been identified in a Turkish family with autosomal recessive nonsyndromic sensorineural deafness by Cengiz et al. (2010). Ramzan et al. (2024) concluded that variants in a single deafness-associated gene may not explain hearing loss in all affected members of a family, and that affected individuals may need to be analyzed separately. </p>
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<h4>
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<strong>Animal Model</strong>
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<p>Liang et al. (1998) proposed, on the basis of conserved synteny, that the recessive mouse deafness mutations 'shaker-2' (sh2) and sh2(j) are models of DFNB3. Genetic mapping of sh2 refined the location to a 0.6-cM interval of mouse chromosome 11. Three homologous genes map within the sh2 and DFNB3 intervals, suggesting that sh2 is the homolog of DFNB3. </p><p>Probst et al. (1998) demonstrated that deafness in shaker-2 mice was corrected by a bacterial artificial chromosome (BAC) transgene containing the unconventional myosin XVA (MYO15A; 602666). Because of its location in a region of homology of synteny to 17p, shaker-2 was thought to be the homolog of DFNB3. Wang et al. (1998) demonstrated that this was indeed the case by finding mutations of MYO15A in consanguineous Bengkala and Indian families. </p><p>Anderson et al. (2000) described the shaker-2(J) lesion, which is a 14.7-kb deletion that removes the last 6 exons from the 3-prime terminus of the Myo15 transcript. </p>
</span>
<div>
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</div>
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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">
Anderson, D. W., Probst, F. J., Belyantseva, I. A., Fridell, R. A., Beyer, L., Martin, D. M., Wu, D., Kachar, B., Friedman, T. B., Raphael, Y., Camper, S. A.
<strong>The motor and tail regions of myosin XV are critical for normal structure and function of auditory and vestibular hair cells.</strong>
Hum. Molec. Genet. 9: 1729-1738, 2000.
[PubMed: 10915760]
[Full Text: https://doi.org/10.1093/hmg/9.12.1729]
</p>
</li>
<li>
<p class="mim-text-font">
Cengiz, F. B., Duman, D., Sirmaci, A., Tokgoz-Yilmaz, S., Erbek, S., Ozturkmen-Akay, H., Incesulu, A., Edwards, Y. J. K., Ozdag, H., Liu, X. Z., Tekin, M.
<strong>Recurrent and private MYO15A mutations are associated with deafness in the Turkish population.</strong>
Genet. Test. Molec. Biomarkers 14: 543-550, 2010.
[PubMed: 20642360]
[Full Text: https://doi.org/10.1089/gtmb.2010.0039]
</p>
</li>
<li>
<p class="mim-text-font">
Friedman, T. B., Liang, Y., Weber, J. L., Hinnant, J. T., Barber, T. D., Winata, S., Arhya, I. N., Asher, J. H., Jr.
<strong>A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17.</strong>
Nature Genet. 9: 86-91, 1995.
[PubMed: 7704031]
[Full Text: https://doi.org/10.1038/ng0195-86]
</p>
</li>
<li>
<p class="mim-text-font">
Lezirovitz, K., Pardono, E., de Mello Auricchio, M. T. B., de Carvalho e Silva, F. L., Lopes, J. J., Abreu-Silva, R. S., Romanos, J., Batissoco, A. C., Mingroni-Netto, R. C.
<strong>Unexpected genetic heterogeneity in a large consanguineous Brazilian pedigree presenting deafness.</strong>
Europ. J. Hum. Genet. 16: 89-96, 2008. Note: Erratum: Europ. J. Hum. Genet. 16: 660 only, 2008.
[PubMed: 17851452]
[Full Text: https://doi.org/10.1038/sj.ejhg.5201917]
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</li>
<li>
<p class="mim-text-font">
Liang, Y., Wang, A., Morell, R., Wilcox, E., Jain, P., Li, X. C., Negrini, C., Deshmukh, D., Lupski, J. R., Chen, K.-S., Hinnant, J. T., Barber, T., Winata, S., Arhya, I. N., Moeljopawiro, S., Friedman, T. B.
<strong>Nonsyndromic recessive deafness segregating with different haplotypes in families from Bali and India mapped to the 4 cM DFNB3 region of 17p11.2. (Abstract)</strong>
Am. J. Hum. Genet. 61 (suppl.): A282 only, 1997.
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<p class="mim-text-font">
Liang, Y., Wang, A., Probst, F. J., Arhya, I. N., Barber, T. D., Chen, K.-S., Deshmukh, D., Dolan, D. F., Hinnant, J. T., Carter, L. E., Jain, P. K., Lalwani, A. K., and 9 others.
<strong>Genetic mapping refines DFNB3 to 17p11.2, suggests multiple alleles of DFNB3, and supports homology to the mouse model shaker-2.</strong>
Am. J. Hum. Genet. 62: 904-915, 1998.
[PubMed: 9529344]
[Full Text: https://doi.org/10.1086/301786]
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Probst, F. J., Fridell, R. A., Raphael, Y., Saunders, T. L., Wang, A., Liang, Y., Morell, R. J., Touchman, J. W., Lyons, R. H., Noben-Trauth, K., Friedman, T. B., Camper, S. A.
<strong>Correction of deafness in shaker-2 mice by an unconventional myosin in a BAC transgene.</strong>
Science 280: 1444-1447, 1998.
[PubMed: 9603735]
[Full Text: https://doi.org/10.1126/science.280.5368.1444]
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Ramzan, M., Zafeer, M. F., Abad, C., Guo, S., Owrang, D., Alper, O., Mutlu, A., Atik, T., Duman, D., Bademci, G., Vona, B., Kalcioglu, M. T., Walz, K., Tekin, M.
<strong>Genetic heterogeneity in hereditary hearing loss: potential role of kinociliary protein TOGARAM2.</strong>
Europ. J. Hum. Genet. 32: 639-646, 2024.
[PubMed: 38374469]
[Full Text: https://doi.org/10.1038/s41431-024-01562-6]
</p>
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<li>
<p class="mim-text-font">
Wang, A., Liang, Y., Fridell, R. A., Probst, F. J., Wilcox, E. R., Touchman, J. W., Morton, C. C., Morell, R. J., Noben-Trauth, K., Camper, S. A., Friedman, T. B.
<strong>Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3.</strong>
Science 280: 1447-1451, 1998.
[PubMed: 9603736]
[Full Text: https://doi.org/10.1126/science.280.5368.1447]
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<li>
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Winata, S., Arhya, I. N., Moeljopawiro, S., Hinnant, J. T., Liang, Y., Friedman, T. B., Asher, J. H., Jr.
<strong>Congenital non-syndromal autosomal recessive deafness in Bengkala, an isolated Balinese village.</strong>
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[PubMed: 7616538]
[Full Text: https://doi.org/10.1136/jmg.32.5.336]
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Marla J. F. O&#x27;Neill - updated : 11/25/2024<br>Marla J. F. O&#x27;Neill - updated : 5/6/2008<br>George E. Tiller - updated : 9/21/2000<br>Victor A. McKusick - updated : 5/26/1998<br>Victor A. McKusick - updated : 5/13/1998<br>Victor A. McKusick - updated : 11/4/1997
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