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- #113650 - BRANCHIOOTORENAL SYNDROME 1; BOR1
- OMIM
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<span class="h4">#113650</span>
<br />
<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/113650"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS113650"> <strong>Phenotypic Series</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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<a href="#diagnosis">Diagnosis</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=BRANCHIOOTORENAL SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0111423" 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/113650" 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:0111423" 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>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
</span>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 290006<br />
<strong>ORPHA:</strong> 107<br />
<strong>DO:</strong> 0111423<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>
113650
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
BRANCHIOOTORENAL SYNDROME 1; BOR1
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
BRANCHIOOTORENAL DYSPLASIA<br />
MELNICK-FRASER SYNDROME
</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/8/335?start=-3&limit=10&highlight=335">
8q13.3
</a>
</span>
</td>
<td>
<span class="mim-font">
Branchiootorenal syndrome 1, with or without cataracts
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/113650"> 113650 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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">
EYA1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601653"> 601653 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/113650" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS113650" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
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</div>
&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/113650" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/113650" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Long, narrow face <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865567&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865567</a>]</span><br /> -
Facial nerve paralysis (10% of patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/280816001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">280816001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193093009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193093009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G51.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G51.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/351.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">351.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0376175&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0376175</a>, <a href="https://bioportal.bioontology.org/search?q=C0015469&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015469</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007209</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0010628" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010628</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010628" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010628</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hearing loss (95% of patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/103276001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">103276001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/343087000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">343087000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15188001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15188001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H91.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011053&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011053</a>, <a href="https://bioportal.bioontology.org/search?q=C0018772&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018772</a>, <a href="https://bioportal.bioontology.org/search?q=C1384666&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1384666</a>, <a href="https://bioportal.bioontology.org/search?q=C3887873&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887873</a>, <a href="https://bioportal.bioontology.org/search?q=C2029884&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2029884</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</a>]</span><br /> -
Sensorineural hearing loss (20% of patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60700002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60700002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018784&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018784</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span><br /> -
Conductive hearing loss (30% of patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44057004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44057004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018777&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018777</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000405" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000405</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000405" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000405</a>]</span><br /> -
Mixed hearing loss (50% of patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/77507001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">77507001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.8</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.20</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0155552&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0155552</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000410" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000410</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000410" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000410</a>]</span><br /> -
Preauricular pits (70-80% of patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1955003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1955003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266610&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266610</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004467" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004467</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004467" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004467</a>]</span><br /> -
Microtia (30-60% of patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35045004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35045004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/744.23" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">744.23</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0152423&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152423</a>, <a href="https://bioportal.bioontology.org/search?q=C1657142&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1657142</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008551" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008551</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008551" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008551</a>]</span><br /> -
Cup-shaped ears (30-60% of patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845447&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845447</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000378" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000378</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000378" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000378</a>]</span><br /> -
Malformed pinnae (30-60% of patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846460&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846460</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000356" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000356</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000356" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000356</a>]</span><br /> -
Hypoplastic pinnae (30-60% of patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35045004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35045004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/744.23" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">744.23</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0152423&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152423</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008551" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008551</a>]</span><br /> -
Narrowed external ear canal (30% of patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676971&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676971</a>]</span><br /> -
Unconnected or fused stapes and incus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676972&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676972</a>]</span><br /> -
Stapes fixation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861326&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861326</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000381" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000381</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000381" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000381</a>]</span><br /> -
Bulbous internal auditory canal <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676973&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676973</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004458" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004458</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004458" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004458</a>]</span><br /> -
Cochlear malformation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862050&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862050</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008554" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008554</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008554" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008554</a>]</span><br /> -
Hypoplastic cochlea <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676974&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676974</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008586" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008586</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008586" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008586</a>]</span><br /> -
Mondini malformation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857078</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000376" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000376</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000376" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000376</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Lacrimal duct aplasia or stenosis (25% of patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676062&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676062</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- High, arched palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27272007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27272007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q38.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q38.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240635</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span><br /> -
Cleft palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63567004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63567004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87979003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87979003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837218</a>, <a href="https://bioportal.bioontology.org/search?q=C2981150&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2981150</a>, <a href="https://bioportal.bioontology.org/search?q=C2240378&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2240378</a>, <a href="https://bioportal.bioontology.org/search?q=C0008925&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008925</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span><br /> -
Bifid uvula <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18910001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18910001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551488&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551488</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000193" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000193</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000193" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000193</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=3c22579bdef4e88303964de87353ca6f" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Uvula,Cleft-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=3c22579bdef4e88303964de87353ca6f&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Overbite <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63783001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63783001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/109501002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">109501002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60476005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60476005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/251293001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">251293001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.29" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.29</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.212" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.212</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.22" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.22</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266063&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266063</a>, <a href="https://bioportal.bioontology.org/search?q=C3714535&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714535</a>, <a href="https://bioportal.bioontology.org/search?q=C1305740&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1305740</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011094" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011094</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011094" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011094</a>]</span><br /> -
Gustatory lacrimation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862052&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862052</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100274" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100274</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100274" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100274</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Neck </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Branchial cleft fistulas or cysts, usually bilateral (50 to 60% of patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862053&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862053</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Kidneys </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Renal anomalies (67% of patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44513007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44513007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q63.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q63.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266292&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266292</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000077" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000077</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000077" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000077</a>]</span><br /> -
Renal dysplasia/aplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862048&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862048</a>]</span><br /> -
Renal collecting system anomalies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1851303&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1851303</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004742" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004742</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004742" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004742</a>]</span><br /> -
Polycystic kidneys <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/82525005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">82525005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q61.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q61.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/753.12" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">753.12</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1567435&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1567435</a>, <a href="https://bioportal.bioontology.org/search?q=C0022680&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022680</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000113" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000113</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000113" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000113</a>]</span><br /> -
Abnormal rotation of the kidneys <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/49008000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">49008000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q63.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q63.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0238210&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0238210</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004712" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004712</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004712" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004712</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ureters </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Vesicoureteric reflux <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197811007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197811007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.70</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/593.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">593.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042580&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042580</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000076" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000076</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000076" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000076</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Variable expressivity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861403&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861403</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span><br /> -
Incomplete penetrance <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836598</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003829</a>]</span><br /> -
Genetic heterogeneity (BOR2, <a href="/entry/610896">610896</a>) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242960&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242960</a>]</span><br /> -
Onset of hearing loss ranges from childhood to young adulthood<br /> -
Prevalence of 1 in 40,000<br /> -
Allelic disorder to branchiootic syndrome (BOS1, <a href="/entry/602588">602588</a>) and otofaciocervical syndrome (<a href="/entry/166780">166780</a>)<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the EYA transcriptional coactivator and phosphatase 1 gene (EYA1, <a href="/entry/601653#0001">601653.0001</a>)<br />
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<h5>
Branchiootorenal syndrome
- <a href="/phenotypicSeries/PS113650">PS113650</a>
- 2 Entries
</h5>
</div>
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<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>
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<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/8/335?start=-3&limit=10&highlight=335"> 8q13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/113650"> Branchiootorenal syndrome 1, with or without cataracts </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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/113650"> 113650 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601653"> EYA1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601653"> 601653 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/832?start=-3&limit=10&highlight=832"> 19q13.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610896"> Branchiootorenal syndrome 2 </a>
</span>
</td>
<td>
<span class="mim-font">
</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/610896"> 610896 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600963"> SIX5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600963"> 600963 </a>
</span>
</td>
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because branchiootorenal syndrome-1 (BOR1) is caused by heterozygous mutation in the EYA1 gene (<a href="/entry/601653">601653</a>) on chromosome 8q13.</p>
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<strong>Description</strong>
</span>
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<p>Branchiootorenal syndrome is an autosomal dominant disorder characterized by sensorineural, conductive, or mixed hearing loss, structural defects of the outer, middle, and inner ear, branchial fistulas or cysts, and renal abnormalities ranging from mild hypoplasia to complete absence. Reduced penetrance and variable expressivity has been observed (<a href="#10" class="mim-tip-reference" title="Fraser, F. C., Ling, D., Clogg, D., Nogrady, B. &lt;strong&gt;Genetic aspects of the BOR syndrome--branchial fistulas, ear pits, hearing loss, and renal anomalies.&lt;/strong&gt; Am. J. Med. Genet. 2: 241-252, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/263442/&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;263442&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320020305&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="263442">Fraser et al., 1978</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=263442" 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>Genetic Heterogeneity of Branchiootorenal Syndrome</em></strong></p><p>
See also BOR2 (<a href="/entry/610896">610896</a>), caused by mutation in the SIX5 gene (<a href="/entry/600963">600963</a>) on chromosome 19q13. <a href="#31" class="mim-tip-reference" title="Sanchez-Valle, A., Wang, X., Potocki, L., Xia, Z., Kang, S.-H. L., Carlin, M. E., Michel, D., Williams, P., Cabrera-Meza, G., Brundage, E. K., Eifert, A. L., Stankiewicz, P., Cheung, S. W., Lalani, S. R. &lt;strong&gt;HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome.&lt;/strong&gt; Am. J. Med. Genet. 152A: 2854-2860, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20979191/&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;20979191&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=20979191[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33686&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="20979191">Sanchez-Valle et al. (2010)</a> stated that approximately 40% of patients with BOR have mutations in the EYA1 gene and 5% have mutations in the SIX5 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20979191" 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>See also branchiootic (BO) syndrome-1 (BOS1; <a href="/entry/602588">602588</a>) and the otofaciocervical syndrome (OFC; <a href="/entry/166780">166780</a>), allelic disorders showing overlapping phenotypes but without renal anomalies. See also <a href="/entry/600257">600257</a> for a discussion of the BOR-Duane-hydrocephalus contiguous gene syndrome as described by <a href="#35" class="mim-tip-reference" title="Vincent, C., Kalatzis, V., Compain, S., Levilliers, J., Slim, R., Graia, F., de Lurdes Pereira, M., Nivelon, A., Croquette, M.-F., Lacombe, D., Vigneron, J., Helias, J., Broyer, M., Callen, D. F., Haan, E. A., Weissenbach, J., Lacroix, B., Bellane-Chantelot, C., Le Paslier, D., Cohen, D., Petit, C. &lt;strong&gt;A proposed new contiguous gene syndrome on 8q consists of branchio-oto-renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene.&lt;/strong&gt; Hum. Molec. Genet. 3: 1859-1866, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7849713/&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;7849713&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/3.10.1859&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="7849713">Vincent et al. (1994)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7849713" 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>Although <a href="#25" class="mim-tip-reference" title="Melnick, M., Hodes, M. E., Nance, W. E., Yune, H., Sweeney, A. &lt;strong&gt;Branchio-oto-renal dysplasia and branchio-oto dysplasia: two distinct autosomal dominant disorders.&lt;/strong&gt; Clin. Genet. 13: 425-442, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/657583/&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;657583&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1978.tb04142.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="657583">Melnick et al. (1978)</a> maintained that the BOR syndrome is distinct from the BO syndrome because in the latter condition renal anomaly is absent and deafness is not a constant feature, <a href="#6" class="mim-tip-reference" title="Cremers, C. W. R. J., Fikkers-van Noord, M. &lt;strong&gt;The earpits-deafness syndrome: clinical and genetic aspects.&lt;/strong&gt; Int. J. Pediat. Otorhinolaryng. 2: 309-322, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6964893/&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;6964893&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0165-5876(80)90036-1&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="6964893">Cremers and Fikkers-van Noord (1980)</a> concluded that the 2 syndromes are in fact a single entity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=657583+6964893" 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>Melnick et al. (<a href="#24" class="mim-tip-reference" title="Melnick, M., Bixler, D., Silk, K., Yune, H., Nance, W. E. &lt;strong&gt;Autosomal dominant branchiootorenal dysplasia.&lt;/strong&gt; Birth Defects Orig. Art. Ser. XI(5): 121-128, 1975."None>1975</a>, <a href="#23" class="mim-tip-reference" title="Melnick, M., Bixler, D., Nance, W. E., Silk, K., Yune, H. &lt;strong&gt;Familial branchio-oto-renal dysplasia: a new addition to the branchial arch syndromes.&lt;/strong&gt; Clin. Genet. 9: 25-34, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1248162/&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;1248162&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1976.tb01546.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1248162">1976</a>) described a family in which the father and 3 of 6 living children (a son and 2 daughters) had mixed hearing loss associated with a Mondini-type cochlear malformation (hypoplasia of cochlear apex shown by tomography) and stapes fixation, cup-shaped, anteverted pinnae, bilateral prehelical pits, bilateral branchial cleft fistulas, and bilateral renal dysplasia with anomalies of the collecting system. The father and affected son also had aplasia of the lacrimal ducts. A fourth child, who died at 5 months of age, was said to have had branchial cleft fistulas and bilateral polycystic kidneys. Conditions in the same nosoembryologic community were discussed. <a href="#8" class="mim-tip-reference" title="Fitch, N., Srolovitz, H. &lt;strong&gt;Severe renal dysplasia produced by a dominant gene.&lt;/strong&gt; Am. J. Dis. Child. 130: 1356-1357, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/998578/&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;998578&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archpedi.1976.02120130062012&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="998578">Fitch and Srolovitz (1976)</a> reported a woman with preauricular pits, cervical fistulas, and partial deafness who gave birth to 2 children with preauricular pits and severe renal dysgenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1248162+998578" 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="#10" class="mim-tip-reference" title="Fraser, F. C., Ling, D., Clogg, D., Nogrady, B. &lt;strong&gt;Genetic aspects of the BOR syndrome--branchial fistulas, ear pits, hearing loss, and renal anomalies.&lt;/strong&gt; Am. J. Med. Genet. 2: 241-252, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/263442/&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;263442&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320020305&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="263442">Fraser et al. (1978)</a> reported a kindred with the BOR syndrome. Clinical features included preauricular pits, branchial fistulas, sensorineural, conductive, or mixed hearing loss, lacrimal stenosis, and malformed external ears. Radiographic studies showed hypoplastic and malformed external ear canals, ossicles, and cochlea. Radiographic studies of the urinary tract showed minor anomalies, including partially distorted pelvicalyceal systems, narrow pelviureteric junctions, and renal dysplasia. Not all features were expressed in those affected. <a href="#10" class="mim-tip-reference" title="Fraser, F. C., Ling, D., Clogg, D., Nogrady, B. &lt;strong&gt;Genetic aspects of the BOR syndrome--branchial fistulas, ear pits, hearing loss, and renal anomalies.&lt;/strong&gt; Am. J. Med. Genet. 2: 241-252, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/263442/&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;263442&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320020305&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="263442">Fraser et al. (1978)</a> also provided a review of previously reported cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=263442" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Carmi, R., Binshtock, M., Abeliovich, D., Bar-Ziv, J. &lt;strong&gt;The branchio-oto-renal (BOR) syndrome: report of bilateral renal agenesis in three sibs.&lt;/strong&gt; Am. J. Med. Genet. 14: 625-627, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6846397/&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;6846397&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320140405&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="6846397">Carmi et al. (1983)</a> observed a man with the BOR syndrome and crossed renal ectopia who fathered 3 children born with bilateral renal agenesis and the Potter syndrome. <a href="#29" class="mim-tip-reference" title="Preisch, J. W., Bixler, D., Ellis, F. D. &lt;strong&gt;Gustatory lacrimation in association with the branchio-oto-renal syndrome.&lt;/strong&gt; Clin. Genet. 27: 506-509, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4006277/&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;4006277&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1985.tb00240.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4006277">Preisch et al. (1985)</a> reported affected father, son, and daughter. The father and daughter showed unilateral tearing with eating, i.e., gustatory lacrimation. Another family reportedly showed the same phenomenon. Gustatory lacrimation, sometimes described as 'crocodile tears,' was noted by <a href="#13" class="mim-tip-reference" title="Gorlin, R. J. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Minneapolis, Minn. 1976."None>Gorlin (1976)</a> to have been observed in over 100 cases but never in multiple members of families. Most cases are unilateral and often follow facial trauma or surgery but can occur as a congenital defect in innervation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4006277+6846397" 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="#9" class="mim-tip-reference" title="Fraser, F. C., Ayme, S., Halal, F., Sproule, J. &lt;strong&gt;Autosomal dominant duplication of the renal collection system, hearing loss, and external ear anomalies: a new syndrome.&lt;/strong&gt; Am. J. Med. Genet. 14: 473-478, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6859100/&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;6859100&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320140311&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="6859100">Fraser et al. (1983)</a> reported 2 families in which the propositi had bilateral sensorineural hearing loss, preauricular pit or tag, and duplication of the ureters or bifid renal pelvises. Other relatives had 1 or more of these anomalies in a pattern suggesting autosomal dominant inheritance with reduced penetrance and variable expressivity. <a href="#9" class="mim-tip-reference" title="Fraser, F. C., Ayme, S., Halal, F., Sproule, J. &lt;strong&gt;Autosomal dominant duplication of the renal collection system, hearing loss, and external ear anomalies: a new syndrome.&lt;/strong&gt; Am. J. Med. Genet. 14: 473-478, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6859100/&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;6859100&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320140311&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="6859100">Fraser et al. (1983)</a> suggested the term 'branchiootoureteral syndrome.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6859100" 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="#15" class="mim-tip-reference" title="Heimler, A., Lieber, E. &lt;strong&gt;Branchio-oto-renal syndrome: reduced penetrance and variable expressivity in four generations of a large kindred.&lt;/strong&gt; Am. J. Med. Genet. 25: 15-27, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3799714/&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;3799714&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320250104&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="3799714">Heimler and Lieber (1986)</a> described a large, 4-generation kindred with branchiootorenal syndrome containing 16 individuals with confirmed manifestations of the disorder. Of these, only 4 had abnormalities in all 3 systems, whereas 7 had branchial arch and/or hearing defects but no reported renal abnormalities. However, because only 1 of these individuals had undergone detailed renal evaluation, it is possible that the incidents of renal defects in this kindred was higher than reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3799714" 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="#19" class="mim-tip-reference" title="Legius, E., Fryns, J. P., Van Den Berghe, H. &lt;strong&gt;Dominant branchial cleft syndrome with characteristics of both branchio-oto-renal and branchio-oculo-facial syndrome.&lt;/strong&gt; Clin. Genet. 37: 347-350, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2354548/&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;2354548&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1990.tb03517.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2354548">Legius et al. (1990)</a> described father and son with a branchial cleft syndrome mixing characteristics of the BOR syndrome with those of the branchiooculofacial syndrome (BOFS; <a href="/entry/113620">113620</a>). The 2 subjects showed several anomalies common to both syndromes, namely, abnormally shaped ears with deafness, cervical fistulas, preauricular ear pits, and lacrimal duct stenosis. Unilateral renal hypoplasia and dysplasia in the son were typical of the BOR syndrome. On the other hand, cleft palate and mild 'mental problems' in the father, and bilateral microphthalmia and high-arched palate in the son were more characteristic of BOFS. Neither the father nor the son showed the usual findings of BOFS, such as lip 'pseudoclefts,' abnormal nose, premature graying, or skin abnormalities. The father had been operated on for arteria lusoria (left subclavian artery passing behind the esophagus) causing dysphagia. He had also had unexplained atrial fibrillation. <a href="#21" class="mim-tip-reference" title="Lin, A. E., Doherty, R., Lea, D. &lt;strong&gt;Branchio-oculo-facial and branchio-oto-renal syndromes are distinct entities. (Letter)&lt;/strong&gt; Clin. Genet. 41: 221-222, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1576761/&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;1576761&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1992.tb03667.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1576761">Lin et al. (1992)</a> concluded that the patients of <a href="#19" class="mim-tip-reference" title="Legius, E., Fryns, J. P., Van Den Berghe, H. &lt;strong&gt;Dominant branchial cleft syndrome with characteristics of both branchio-oto-renal and branchio-oculo-facial syndrome.&lt;/strong&gt; Clin. Genet. 37: 347-350, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2354548/&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;2354548&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1990.tb03517.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2354548">Legius et al. (1990)</a> indeed had the BOF syndrome and that this entity is distinct from the BOR syndrome. <a href="#20" class="mim-tip-reference" title="Legius, E., Fryns, J.-P. &lt;strong&gt;Reply to Dr. Lin. (Letter)&lt;/strong&gt; Clin. Genet. 41: 223, 1992."None>Legius and Fryns (1992)</a> remained dubious of a distinction. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1576761+2354548" 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="#5" class="mim-tip-reference" title="Chitayat, D., Hodgkinson, K. A., Chen, M.-F., Haber, G. D., Nakishima, S., Sando, I. &lt;strong&gt;Branchio-oto-renal syndrome: further delineation of an underdiagnosed syndrome.&lt;/strong&gt; Am. J. Med. Genet. 43: 970-975, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1415348/&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;1415348&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320430613&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="1415348">Chitayat et al. (1992)</a> made the diagnosis of BOR syndrome in a woman who had had 2 pregnancies complicated by oligohydramnios due to renal hypoplasia and agenesis. Both babies died neonatally of pulmonary hypoplasia. Histopathology of the temporal bones of the second child showed marked immaturity of the middle ear cleft, ossicles, facial nerve and canal, and cochlear nerve. The mother's renal ultrasound study was normal although intravenous pyelography indicated renal hypoplasia. The mother had a hearing problem first recognized at age 5 when abnormality of the right ossicular mass and antral region was found. A preauricular pit on the right in the mother was pictured. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1415348" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Chen, A., Francis, M., Ni, L., Cremers, C. W. R. J., Kimberling, W. J., Sato, Y., Phelps, P. D., Bellman, S. C., Wagner, M. J., Pembrey, M., Smith, R. J. H. &lt;strong&gt;Phenotypic manifestations of branchiootorenal syndrome.&lt;/strong&gt; Am. J. Med. Genet. 58: 365-370, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8533848/&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;8533848&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320580413&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="8533848">Chen et al. (1995)</a> described 45 individuals with the BOR syndrome, highlighting differences and similarities to findings reported by others. Characteristic temporal bone findings included hypoplasia of the cochlea, which was four-fifths of normal size with only 2 turns, dilation of the vestibular aqueduct, bulbous internal auditory canals, deep posterior fossa, and acutely angled promontories. They pictured a 3-generation family with various manifestations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8533848" 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="#14" class="mim-tip-reference" title="Graham, G. E., Allanson, J. E. &lt;strong&gt;Congenital cholesteatoma and malformations of the facial nerve: rare manifestations of the BOR syndrome.&lt;/strong&gt; Am. J. Med. Genet. 86: 20-26, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10440824/&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;10440824&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19990903)86:1&lt;20::aid-ajmg5&gt;3.0.co;2-h&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="10440824">Graham and Allanson (1999)</a> described a 14-month-old girl with unilateral congenital cholesteatoma (<a href="/entry/604183">604183</a>) and anomalies of the facial nerve, in addition to the branchial arch, otic, and renal malformations that comprise the BOR syndrome. The mother also had the BOR syndrome and unilateral duplication of the facial nerve. This was said to be the first study of a BOR patient with congenital cholesteatoma and the second family in which cholesteatoma and anomalies of the facial nerve were described in patients with BO/BOR syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10440824" 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 the branchiootorenal syndrome, renal defects, which are estimated to be severe in only 6% of patients, can include collecting system duplication, hypoplasia, cystic dysplasia, hydronephrosis, and agenesis (<a href="#16" class="mim-tip-reference" title="Izzedine, H., Tankere, F., Launay-Vacher, V., Deray, G. &lt;strong&gt;Ear and kidney syndromes: molecular versus clinical approach.&lt;/strong&gt; Kidney Int. 65: 369-385, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14717907/&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;14717907&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1523-1755.2004.00390.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14717907">Izzedine et al., 2004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14717907" 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="#27" class="mim-tip-reference" title="Olavarrieta, L., Morales-Angulo, C., del Castillo, I., Moreno, F., Moreno-Pelayo, M. A. &lt;strong&gt;Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes.&lt;/strong&gt; Clin. Genet. 73: 262-267, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18177466/&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;18177466&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2007.00947.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18177466">Olavarrieta et al. (2008)</a> reported an unusual Spanish family in which the male proband had BOR1 syndrome, associated with a heterozygous de novo mutation in the EYA1 gene (<a href="/entry/601653#0015">601653.0015</a>), and Stickler syndrome type I (STL1; <a href="/entry/108300">108300</a>), associated with a heterozygous mutation in the COL2A1 gene (<a href="/entry/120140">120140</a>). The patient's mother and brother, both of whom had Stickler syndrome and the COL2A1 mutation, did not carry the EYA1 mutation. All 3 patients had myopia, vitreous anomaly, and flat face, characteristic of Stickler syndrome; the brothers had cleft palate. The proband also had branchial fistulas, preauricular pits, renal agenesis, and mixed hearing loss consistent with BOR1 syndrome. The brother with Stickler syndrome had conductive hearing loss due to infection and surgery. <a href="#27" class="mim-tip-reference" title="Olavarrieta, L., Morales-Angulo, C., del Castillo, I., Moreno, F., Moreno-Pelayo, M. A. &lt;strong&gt;Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes.&lt;/strong&gt; Clin. Genet. 73: 262-267, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18177466/&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;18177466&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2007.00947.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18177466">Olavarrieta et al. (2008)</a> emphasized that both disorders show phenotypic variability as well as overlapping features, which can complicate a precise diagnosis. Thorough clinical evaluation is necessary to identify coexisting genetic syndromes in the same patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18177466" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of BOR1 in 6 families reported by <a href="#33" class="mim-tip-reference" title="Stockley, T. L., Mendoza-Londono, R., Propst, E. J., Sodhi, S., Dupuis, L., Papsin, B. C. &lt;strong&gt;A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: implications for molecular diagnostics and disease mechanism.&lt;/strong&gt; Am. J. Med. Genet. 149A: 322-327, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19206155/&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;19206155&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32679&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="19206155">Stockley et al. (2009)</a> was consistent with autosomal dominant inheritance. The heterozygous mutations in the EYA1 gene that were identified in 5 patients with BOR1 by <a href="#33" class="mim-tip-reference" title="Stockley, T. L., Mendoza-Londono, R., Propst, E. J., Sodhi, S., Dupuis, L., Papsin, B. C. &lt;strong&gt;A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: implications for molecular diagnostics and disease mechanism.&lt;/strong&gt; Am. J. Med. Genet. 149A: 322-327, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19206155/&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;19206155&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32679&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="19206155">Stockley et al. (2009)</a> occurred de novo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19206155" 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="#3" class="mim-tip-reference" title="Chang, E. H., Menezes, M., Meyer, N. C., Cucci, R. A., Vervoort, V. S., Schwartz, C. E., Smith, R. J. H. &lt;strong&gt;Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences.&lt;/strong&gt; Hum. Mutat. 23: 582-589, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15146463/&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;15146463&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.20048&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="15146463">Chang et al. (2004)</a> sought to refine the clinical diagnosis of the BOR syndrome by analyzing phenotypic data from families segregating EYA1 disease-causing mutations. They presented diagnostic criteria in the form of a list of major and minor criteria and suggested that an affected individual must have at least 3 major criteria, 2 major criteria and at least 2 minor criteria, or 1 major criterion and an affected first-degree relative meeting criteria for BOR syndrome. Major criteria included branchial anomalies, deafness, preauricular pits, and renal anomalies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15146463" 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="#17" class="mim-tip-reference" title="Kumar, S., Kimberling, W. J., Kenyon, J. B., Smith, R. J. H., Marres, E. H. M. A., Cremers, C. W. R. J. &lt;strong&gt;Autosomal dominant branchio-oto-renal syndrome--localization of a disease gene to chromosome 8q by linkage in a Dutch family.&lt;/strong&gt; Hum. Molec. Genet. 1: 491-495, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1307249/&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;1307249&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/1.7.491&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="1307249">Kumar et al. (1992)</a> found linkage to genetic markers on chromosome 8q in a 4-generation family with BOR syndrome (maximum lod score of 4.0 at theta = 0.05 with marker D8S165). By multipoint analysis in 2 affected BOR families, <a href="#32" class="mim-tip-reference" title="Smith, R. J. H., Coppage, K. B., Ankerstjerne, J. K. B., Capper, D. T., Kumar, S., Kenyon, J., Tinley, S., Comeau, K., Kimberling, W. J. &lt;strong&gt;Localization of the gene for branchiootorenal syndrome to chromosome 8q.&lt;/strong&gt; Genomics 14: 841-844, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1478663/&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;1478663&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0888-7543(05)80102-8&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="1478663">Smith et al. (1992)</a> found linkage to a marker telomeric to 8q12-q13 (maximum lod score of 3.79 at theta = 0.084). The diagnosis of BOR syndrome was based on the presence of at least 2 of the following features: preauricular pits, lop-ear deformity, branchial fistulas, hearing loss, and renal anomalies. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1478663+1307249" 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="#36" class="mim-tip-reference" title="Wang, Y., Treat, K., Schroer, R. J., O&#x27;Brien, J. E., Stevenson, R. E., Schwartz, C. E. &lt;strong&gt;Localization of branchio-oto-renal (BOR) syndrome to a 3 Mb region of chromosome 8q.&lt;/strong&gt; Am. J. Med. Genet. 51: 169-175, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8092198/&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;8092198&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320510221&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="8092198">Wang et al. (1994)</a>, who referred to this disorder alternatively as the 'Melnick-Fraser syndrome,' used multipoint linkage analysis based on microsatellite markers (<a href="#37" class="mim-tip-reference" title="Weissenbach, J., Gyapay, G., Dib, C., Vignal, A., Morissette, J., Millasseau, P., Vaysseix, G., Lathrop, M. &lt;strong&gt;A second-generation linkage map of the human genome.&lt;/strong&gt; Nature 359: 794-801, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1436057/&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;1436057&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/359794a0&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="1436057">Weissenbach et al., 1992</a>) to map the BOR locus to a 6-cM region of 8q flanked by D8S543 and D8S84. <a href="#26" class="mim-tip-reference" title="Ni, L., Wagner, M. J., Kimberling, W. J., Pembrey, M. E., Grundfast, K. M., Kumar, S., Daiger, S. P., Wells, D. E., Johnson, K., Smith, R. J. H. &lt;strong&gt;Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis.&lt;/strong&gt; Am. J. Med. Genet. 51: 176-184, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8092199/&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;8092199&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320510222&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="8092199">Ni et al. (1994)</a> concluded that BOR is flanked by D8S530 and D8S279. Based on multipoint analysis using a set of 13 polymorphic markers from the BOR region in 2 large, clinically well-characterized families, <a href="#18" class="mim-tip-reference" title="Kumar, S., Kimberling, W. J., Lanyi, A., Sumegi, J., Pinnt, J., Ing, P., Tinley, S., Marres, H. A. M., Cremers, C. W. R. J. &lt;strong&gt;Narrowing the genetic interval and yeast artificial chromosome map in the branchio-oto-renal region on chromosome 8q.&lt;/strong&gt; Genomics 31: 71-79, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8808282/&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;8808282&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/geno.1996.0011&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="8808282">Kumar et al. (1996)</a> concluded that the BOR locus is within a 2-cM region between markers D8S543 and D8S530. They identified YACs that map in the critical region and characterized them by fluorescence in situ hybridization and pulsed field gel electrophoresis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8808282+8092199+1436057+8092198" 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="molecularGenetics" class="mim-anchor"></a>
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<strong>Molecular Genetics</strong>
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<p>In patients with the BOR syndrome, <a href="#1" class="mim-tip-reference" title="Abdelhak, S., Kalatzis, V., Heilig, R., Compain, S., Samson, D., Vincent, C., Weil, D., Cruaud, C., Sahly, I., Leibovici, M., Bitner-Glindzicz, M., Francis, M., Lacombe, D., Vigneron, J., Charachon, R., Boven, K., Bedbeder, P., Van Regemorter, N., Weissenbach, J., Petit, C. &lt;strong&gt;A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family.&lt;/strong&gt; Nature Genet. 15: 157-164, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9020840/&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;9020840&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0297-157&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="9020840">Abdelhak et al. (1997)</a> identified a large deletion and 7 different mutations in the EYA1 gene (see, e.g., <a href="/entry/601653#0001">601653.0001</a>; <a href="/entry/601653#0002">601653.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9020840" 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="#30" class="mim-tip-reference" title="Rickard, S., Boxer, M., Trompeter, R., Bitner-Glindzicz, M. &lt;strong&gt;Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes. (Letter)&lt;/strong&gt; J. Med. Genet. 37: 623-627, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10991693/&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;10991693&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.37.8.623&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="10991693">Rickard et al. (2000)</a> studied 32 individuals with BOR syndrome or an overlapping phenotype. Eighteen of the cases had what the authors classified as classic BOR syndrome, exhibiting at least 3 of the major features: hearing loss, branchial defects, ear pits, and renal anomalies. Twelve cases had 1 or 2 major clinical features and were designated as having an atypical form of the condition. Two cases had otofaciocervical syndrome (<a href="/entry/166780">166780</a>). Mutations in the EYA1 gene were found in 11 of 18 cases of classic BOR syndrome (see, e.g., <a href="/entry/601653#0011">601653.0011</a>). There were no apparent clinical differences between those with and those without EYA1 mutations. No mutations were detected in any subjects with atypical BOR syndrome or OFC syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10991693" 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="#34" class="mim-tip-reference" title="Vervoort, V. S., Smith, R. J. H., O&#x27;Brien, J., Schroer, R., Abbott, A., Stevenson, R. E., Schwartz, C. E. &lt;strong&gt;Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome.&lt;/strong&gt; Europ. J. Hum. Genet. 10: 757-766, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12404110/&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;12404110&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/sj.ejhg.5200877&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="12404110">Vervoort et al. (2002)</a> noted that in up to one-half of reported cases of BOR syndrome, EYA1 screening was negative, suggesting genetic heterogeneity. Using SSCP and direct sequencing, they screened the coding region of the EYA1 gene in a panel of BOR families linked to chromosome 8. Only 1 point mutation in 5 probands was detected. However, using Southern blot analysis, complex rearrangements such as inversions and large deletions were identified in the other 4 patients. <a href="#34" class="mim-tip-reference" title="Vervoort, V. S., Smith, R. J. H., O&#x27;Brien, J., Schroer, R., Abbott, A., Stevenson, R. E., Schwartz, C. E. &lt;strong&gt;Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome.&lt;/strong&gt; Europ. J. Hum. Genet. 10: 757-766, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12404110/&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;12404110&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/sj.ejhg.5200877&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="12404110">Vervoort et al. (2002)</a> concluded that more complex rearrangements may have been missed in earlier studies, which commonly used only SSCP and sequencing for mutation detection. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12404110" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Chang, E. H., Menezes, M., Meyer, N. C., Cucci, R. A., Vervoort, V. S., Schwartz, C. E., Smith, R. J. H. &lt;strong&gt;Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences.&lt;/strong&gt; Hum. Mutat. 23: 582-589, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15146463/&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;15146463&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.20048&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="15146463">Chang et al. (2004)</a> stated that 51 different mutations in the EYA1 gene had been associated with the BOR syndrome. There was no single common mutation; the majority of mutations were unique to individual families. About 20% of cases had complex rearrangements of EYA1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15146463" 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="#28" class="mim-tip-reference" title="Orten, D. J., Fischer, S. M., Sorensen, J. L., Radhakrishna, U., Cremers, C. W. R. J., Marres, H. A. M., Van Camp, G., Welch, K. O., Smith, R. J. H., Kimberling, W. J. &lt;strong&gt;Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.&lt;/strong&gt; Hum. Mutat. 29: 537-544, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18220287/&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;18220287&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.20691&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="18220287">Orten et al. (2008)</a> identified 70 different EYA1 mutations in 89 of 435 families with BOR or a related phenotype. EYA1 mutations were found in 76 (31%) of 248 families fitting established clinical criteria for BOR and 13 (7%) of 187 families with a questionable BOR phenotype. Most of the mutations were private, and there were no apparent genotype/phenotype correlations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18220287" 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="#33" class="mim-tip-reference" title="Stockley, T. L., Mendoza-Londono, R., Propst, E. J., Sodhi, S., Dupuis, L., Papsin, B. C. &lt;strong&gt;A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: implications for molecular diagnostics and disease mechanism.&lt;/strong&gt; Am. J. Med. Genet. 149A: 322-327, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19206155/&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;19206155&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32679&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="19206155">Stockley et al. (2009)</a> identified EYA1 mutations (see, e.g., <a href="/entry/601653#0016">601653.0016</a>) in 14 (82%) of 17 unrelated probands with BOR syndrome. De novo mutations were confirmed in 45% of the patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19206155" 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="cytogenetics" class="mim-anchor"></a>
<h4 href="#mimCytogeneticsFold" id="mimCytogeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimCytogeneticsToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
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<strong>Cytogenetics</strong>
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<p><a href="#31" class="mim-tip-reference" title="Sanchez-Valle, A., Wang, X., Potocki, L., Xia, Z., Kang, S.-H. L., Carlin, M. E., Michel, D., Williams, P., Cabrera-Meza, G., Brundage, E. K., Eifert, A. L., Stankiewicz, P., Cheung, S. W., Lalani, S. R. &lt;strong&gt;HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome.&lt;/strong&gt; Am. J. Med. Genet. 152A: 2854-2860, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20979191/&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;20979191&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=20979191[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33686&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="20979191">Sanchez-Valle et al. (2010)</a> reported 3 unrelated patients with variable manifestations of BOR syndrome associated with heterozygous nonrecurrent genomic deletions of chromosome 8q13 including the EYA1 gene and other genes. Two of the deletions were proven to occur de novo. All patients had a clinical diagnosis of BOR, including ear and facial anomalies, hearing loss, and renal anomalies or dysfunction. Two had mild developmental delay and 1 had severe developmental delay. The deletions ranged in size from 2.7 to 8.7 Mb, and involved at least 6 genes in addition to EYA1; the patient with the most severe phenotype had the largest deletion. Although all had short stature, none had the typical facies or musculoskeletal features characteristic of otofaciocervical syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20979191" 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="populationGenetics" class="mim-anchor"></a>
<h4 href="#mimPopulationGeneticsFold" id="mimPopulationGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Population Genetics</strong>
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<p><a href="#11" class="mim-tip-reference" title="Fraser, F. C., Sproule, J. R., Halal, F. &lt;strong&gt;Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss.&lt;/strong&gt; Am. J. Med. Genet. 7: 341-349, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7468659/&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;7468659&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320070316&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="7468659">Fraser et al. (1980)</a> suggested that the frequency of the BOR syndrome may be higher than generally realized. Among 421 white children in Montreal schools for the deaf, 19 (4.5%) of 421 deaf children had preauricular pits, compared to 0.7% of newborn white infants. The BOR syndrome was identified in 4 of the 9 families that agreed to family investigations, including audiograms and intravenous pyelograms. The authors estimated that 6% of heterozygotes have severe renal dysplasia and that a preauricular pit at birth suggests that the child has at least 1 chance in 200 of severe hearing loss. <a href="#11" class="mim-tip-reference" title="Fraser, F. C., Sproule, J. R., Halal, F. &lt;strong&gt;Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss.&lt;/strong&gt; Am. J. Med. Genet. 7: 341-349, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7468659/&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;7468659&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320070316&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="7468659">Fraser et al. (1980)</a> estimated the frequency of the BOR syndrome to be 1 in 40,000. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7468659" 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="seeAlso" class="mim-anchor"></a>
<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span class="mim-font">
<span id="mimSeeAlsoToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>See Also:</strong>
</span>
</h4>
<div id="mimSeeAlsoFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<a href="#Cremers1981" class="mim-tip-reference" title="Cremers, C. W. R. J., Thijssen, H. O. M., Fischer, A. J. E. M., Marres, E. H. M. A. &lt;strong&gt;Otological aspects of the earpit-deafness syndrome.&lt;/strong&gt; ORL 43: 223-239, 1981.">Cremers et al. (1981)</a>; <a href="#Gimsing1986" class="mim-tip-reference" title="Gimsing, S., Dyrmose, J. &lt;strong&gt;Branchio-oto-renal dysplasia in three families.&lt;/strong&gt; Ann. Otol. Rhinol. Laryng. 95: 421-426, 1986.">Gimsing and Dyrmose (1986)</a>; <a href="#Lindsay1978" class="mim-tip-reference" title="Lindsay, J. R., Hinojosa, R. &lt;strong&gt;Ear anomalies associated with renal dysplasia and immunodeficiency disease: a histopathological study.&lt;/strong&gt; Ann. Otol. 87: 10-17, 1978.">Lindsay and
Hinojosa (1978)</a>
</span>
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</div>
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<div>
<a id="references"class="mim-anchor"></a>
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span class="mim-font">
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
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</h4>
<div>
<p />
</div>
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
<ol>
<li>
<a id="1" class="mim-anchor"></a>
<a id="Abdelhak1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Abdelhak, S., Kalatzis, V., Heilig, R., Compain, S., Samson, D., Vincent, C., Weil, D., Cruaud, C., Sahly, I., Leibovici, M., Bitner-Glindzicz, M., Francis, M., Lacombe, D., Vigneron, J., Charachon, R., Boven, K., Bedbeder, P., Van Regemorter, N., Weissenbach, J., Petit, C.
<strong>A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family.</strong>
Nature Genet. 15: 157-164, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9020840/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9020840</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9020840" 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/ng0297-157" target="_blank">Full Text</a>]
</p>
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<a id="2" class="mim-anchor"></a>
<a id="Carmi1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Carmi, R., Binshtock, M., Abeliovich, D., Bar-Ziv, J.
<strong>The branchio-oto-renal (BOR) syndrome: report of bilateral renal agenesis in three sibs.</strong>
Am. J. Med. Genet. 14: 625-627, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6846397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6846397</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6846397" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320140405" target="_blank">Full Text</a>]
</p>
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<a id="3" class="mim-anchor"></a>
<a id="Chang2004" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Chang, E. H., Menezes, M., Meyer, N. C., Cucci, R. A., Vervoort, V. S., Schwartz, C. E., Smith, R. J. H.
<strong>Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences.</strong>
Hum. Mutat. 23: 582-589, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15146463/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15146463</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15146463" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/humu.20048" target="_blank">Full Text</a>]
</p>
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<a id="4" class="mim-anchor"></a>
<a id="Chen1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Chen, A., Francis, M., Ni, L., Cremers, C. W. R. J., Kimberling, W. J., Sato, Y., Phelps, P. D., Bellman, S. C., Wagner, M. J., Pembrey, M., Smith, R. J. H.
<strong>Phenotypic manifestations of branchiootorenal syndrome.</strong>
Am. J. Med. Genet. 58: 365-370, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8533848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8533848</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8533848" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320580413" target="_blank">Full Text</a>]
</p>
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<li>
<a id="5" class="mim-anchor"></a>
<a id="Chitayat1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Chitayat, D., Hodgkinson, K. A., Chen, M.-F., Haber, G. D., Nakishima, S., Sando, I.
<strong>Branchio-oto-renal syndrome: further delineation of an underdiagnosed syndrome.</strong>
Am. J. Med. Genet. 43: 970-975, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1415348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1415348</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1415348" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320430613" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="6" class="mim-anchor"></a>
<a id="Cremers1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Cremers, C. W. R. J., Fikkers-van Noord, M.
<strong>The earpits-deafness syndrome: clinical and genetic aspects.</strong>
Int. J. Pediat. Otorhinolaryng. 2: 309-322, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6964893/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6964893</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6964893" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0165-5876(80)90036-1" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="7" class="mim-anchor"></a>
<a id="Cremers1981" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Cremers, C. W. R. J., Thijssen, H. O. M., Fischer, A. J. E. M., Marres, E. H. M. A.
<strong>Otological aspects of the earpit-deafness syndrome.</strong>
ORL 43: 223-239, 1981.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6973119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6973119</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6973119" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1159/000275541" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="8" class="mim-anchor"></a>
<a id="Fitch1976" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fitch, N., Srolovitz, H.
<strong>Severe renal dysplasia produced by a dominant gene.</strong>
Am. J. Dis. Child. 130: 1356-1357, 1976.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/998578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">998578</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=998578" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archpedi.1976.02120130062012" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="9" class="mim-anchor"></a>
<a id="Fraser1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fraser, F. C., Ayme, S., Halal, F., Sproule, J.
<strong>Autosomal dominant duplication of the renal collection system, hearing loss, and external ear anomalies: a new syndrome.</strong>
Am. J. Med. Genet. 14: 473-478, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6859100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6859100</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6859100" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320140311" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="10" class="mim-anchor"></a>
<a id="Fraser1978" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fraser, F. C., Ling, D., Clogg, D., Nogrady, B.
<strong>Genetic aspects of the BOR syndrome--branchial fistulas, ear pits, hearing loss, and renal anomalies.</strong>
Am. J. Med. Genet. 2: 241-252, 1978.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/263442/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">263442</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=263442" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320020305" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="11" class="mim-anchor"></a>
<a id="Fraser1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fraser, F. C., Sproule, J. R., Halal, F.
<strong>Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss.</strong>
Am. J. Med. Genet. 7: 341-349, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7468659/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7468659</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7468659" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320070316" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="12" class="mim-anchor"></a>
<a id="Gimsing1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gimsing, S., Dyrmose, J.
<strong>Branchio-oto-renal dysplasia in three families.</strong>
Ann. Otol. Rhinol. Laryng. 95: 421-426, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3740720/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3740720</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3740720" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1177/000348948609500419" target="_blank">Full Text</a>]
</p>
</div>
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<a id="13" class="mim-anchor"></a>
<a id="Gorlin1976" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gorlin, R. J.
<strong>Personal Communication.</strong>
Minneapolis, Minn. 1976.
</p>
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<li>
<a id="14" class="mim-anchor"></a>
<a id="Graham1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Graham, G. E., Allanson, J. E.
<strong>Congenital cholesteatoma and malformations of the facial nerve: rare manifestations of the BOR syndrome.</strong>
Am. J. Med. Genet. 86: 20-26, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10440824/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10440824</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10440824" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(sici)1096-8628(19990903)86:1&lt;20::aid-ajmg5&gt;3.0.co;2-h" target="_blank">Full Text</a>]
</p>
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<li>
<a id="15" class="mim-anchor"></a>
<a id="Heimler1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Heimler, A., Lieber, E.
<strong>Branchio-oto-renal syndrome: reduced penetrance and variable expressivity in four generations of a large kindred.</strong>
Am. J. Med. Genet. 25: 15-27, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3799714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3799714</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3799714" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320250104" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="16" class="mim-anchor"></a>
<a id="Izzedine2004" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Izzedine, H., Tankere, F., Launay-Vacher, V., Deray, G.
<strong>Ear and kidney syndromes: molecular versus clinical approach.</strong>
Kidney Int. 65: 369-385, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14717907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14717907</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14717907" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1523-1755.2004.00390.x" target="_blank">Full Text</a>]
</p>
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<a id="17" class="mim-anchor"></a>
<a id="Kumar1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kumar, S., Kimberling, W. J., Kenyon, J. B., Smith, R. J. H., Marres, E. H. M. A., Cremers, C. W. R. J.
<strong>Autosomal dominant branchio-oto-renal syndrome--localization of a disease gene to chromosome 8q by linkage in a Dutch family.</strong>
Hum. Molec. Genet. 1: 491-495, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1307249/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1307249</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1307249" 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/1.7.491" target="_blank">Full Text</a>]
</p>
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<a id="18" class="mim-anchor"></a>
<a id="Kumar1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kumar, S., Kimberling, W. J., Lanyi, A., Sumegi, J., Pinnt, J., Ing, P., Tinley, S., Marres, H. A. M., Cremers, C. W. R. J.
<strong>Narrowing the genetic interval and yeast artificial chromosome map in the branchio-oto-renal region on chromosome 8q.</strong>
Genomics 31: 71-79, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8808282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8808282</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8808282" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1006/geno.1996.0011" target="_blank">Full Text</a>]
</p>
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<a id="Legius1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Legius, E., Fryns, J. P., Van Den Berghe, H.
<strong>Dominant branchial cleft syndrome with characteristics of both branchio-oto-renal and branchio-oculo-facial syndrome.</strong>
Clin. Genet. 37: 347-350, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2354548/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2354548</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2354548" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1990.tb03517.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="20" class="mim-anchor"></a>
<a id="Legius1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Legius, E., Fryns, J.-P.
<strong>Reply to Dr. Lin. (Letter)</strong>
Clin. Genet. 41: 223, 1992.
</p>
</div>
</li>
<li>
<a id="21" class="mim-anchor"></a>
<a id="Lin1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lin, A. E., Doherty, R., Lea, D.
<strong>Branchio-oculo-facial and branchio-oto-renal syndromes are distinct entities. (Letter)</strong>
Clin. Genet. 41: 221-222, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1576761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1576761</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1576761" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1992.tb03667.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="22" class="mim-anchor"></a>
<a id="Lindsay1978" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lindsay, J. R., Hinojosa, R.
<strong>Ear anomalies associated with renal dysplasia and immunodeficiency disease: a histopathological study.</strong>
Ann. Otol. 87: 10-17, 1978.
</p>
</div>
</li>
<li>
<a id="23" class="mim-anchor"></a>
<a id="Melnick1976" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Melnick, M., Bixler, D., Nance, W. E., Silk, K., Yune, H.
<strong>Familial branchio-oto-renal dysplasia: a new addition to the branchial arch syndromes.</strong>
Clin. Genet. 9: 25-34, 1976.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1248162/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1248162</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1248162" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1976.tb01546.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="24" class="mim-anchor"></a>
<a id="Melnick1975" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Melnick, M., Bixler, D., Silk, K., Yune, H., Nance, W. E.
<strong>Autosomal dominant branchiootorenal dysplasia.</strong>
Birth Defects Orig. Art. Ser. XI(5): 121-128, 1975.
</p>
</div>
</li>
<li>
<a id="25" class="mim-anchor"></a>
<a id="Melnick1978" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Melnick, M., Hodes, M. E., Nance, W. E., Yune, H., Sweeney, A.
<strong>Branchio-oto-renal dysplasia and branchio-oto dysplasia: two distinct autosomal dominant disorders.</strong>
Clin. Genet. 13: 425-442, 1978.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/657583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">657583</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=657583" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1978.tb04142.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="26" class="mim-anchor"></a>
<a id="Ni1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ni, L., Wagner, M. J., Kimberling, W. J., Pembrey, M. E., Grundfast, K. M., Kumar, S., Daiger, S. P., Wells, D. E., Johnson, K., Smith, R. J. H.
<strong>Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis.</strong>
Am. J. Med. Genet. 51: 176-184, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8092199/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8092199</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8092199" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320510222" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="27" class="mim-anchor"></a>
<a id="Olavarrieta2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Olavarrieta, L., Morales-Angulo, C., del Castillo, I., Moreno, F., Moreno-Pelayo, M. A.
<strong>Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes.</strong>
Clin. Genet. 73: 262-267, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18177466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18177466</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18177466" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.2007.00947.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="28" class="mim-anchor"></a>
<a id="Orten2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Orten, D. J., Fischer, S. M., Sorensen, J. L., Radhakrishna, U., Cremers, C. W. R. J., Marres, H. A. M., Van Camp, G., Welch, K. O., Smith, R. J. H., Kimberling, W. J.
<strong>Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.</strong>
Hum. Mutat. 29: 537-544, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18220287/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18220287</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18220287" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/humu.20691" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="29" class="mim-anchor"></a>
<a id="Preisch1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Preisch, J. W., Bixler, D., Ellis, F. D.
<strong>Gustatory lacrimation in association with the branchio-oto-renal syndrome.</strong>
Clin. Genet. 27: 506-509, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4006277/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4006277</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4006277" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1985.tb00240.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="30" class="mim-anchor"></a>
<a id="Rickard2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Rickard, S., Boxer, M., Trompeter, R., Bitner-Glindzicz, M.
<strong>Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes. (Letter)</strong>
J. Med. Genet. 37: 623-627, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10991693/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10991693</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10991693" 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.37.8.623" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="31" class="mim-anchor"></a>
<a id="Sanchez-Valle2010" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sanchez-Valle, A., Wang, X., Potocki, L., Xia, Z., Kang, S.-H. L., Carlin, M. E., Michel, D., Williams, P., Cabrera-Meza, G., Brundage, E. K., Eifert, A. L., Stankiewicz, P., Cheung, S. W., Lalani, S. R.
<strong>HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome.</strong>
Am. J. Med. Genet. 152A: 2854-2860, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20979191/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20979191</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20979191[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20979191" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.33686" target="_blank">Full Text</a>]
</p>
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<li>
<a id="32" class="mim-anchor"></a>
<a id="Smith1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Smith, R. J. H., Coppage, K. B., Ankerstjerne, J. K. B., Capper, D. T., Kumar, S., Kenyon, J., Tinley, S., Comeau, K., Kimberling, W. J.
<strong>Localization of the gene for branchiootorenal syndrome to chromosome 8q.</strong>
Genomics 14: 841-844, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1478663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1478663</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1478663" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/s0888-7543(05)80102-8" target="_blank">Full Text</a>]
</p>
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<a id="33" class="mim-anchor"></a>
<a id="Stockley2009" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Stockley, T. L., Mendoza-Londono, R., Propst, E. J., Sodhi, S., Dupuis, L., Papsin, B. C.
<strong>A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: implications for molecular diagnostics and disease mechanism.</strong>
Am. J. Med. Genet. 149A: 322-327, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19206155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19206155</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19206155" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.32679" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="34" class="mim-anchor"></a>
<a id="Vervoort2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Vervoort, V. S., Smith, R. J. H., O'Brien, J., Schroer, R., Abbott, A., Stevenson, R. E., Schwartz, C. E.
<strong>Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome.</strong>
Europ. J. Hum. Genet. 10: 757-766, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12404110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12404110</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12404110" 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.5200877" target="_blank">Full Text</a>]
</p>
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<li>
<a id="35" class="mim-anchor"></a>
<a id="Vincent1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Vincent, C., Kalatzis, V., Compain, S., Levilliers, J., Slim, R., Graia, F., de Lurdes Pereira, M., Nivelon, A., Croquette, M.-F., Lacombe, D., Vigneron, J., Helias, J., Broyer, M., Callen, D. F., Haan, E. A., Weissenbach, J., Lacroix, B., Bellane-Chantelot, C., Le Paslier, D., Cohen, D., Petit, C.
<strong>A proposed new contiguous gene syndrome on 8q consists of branchio-oto-renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene.</strong>
Hum. Molec. Genet. 3: 1859-1866, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7849713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7849713</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7849713" 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/3.10.1859" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="36" class="mim-anchor"></a>
<a id="Wang1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wang, Y., Treat, K., Schroer, R. J., O'Brien, J. E., Stevenson, R. E., Schwartz, C. E.
<strong>Localization of branchio-oto-renal (BOR) syndrome to a 3 Mb region of chromosome 8q.</strong>
Am. J. Med. Genet. 51: 169-175, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8092198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8092198</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8092198" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320510221" target="_blank">Full Text</a>]
</p>
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<a id="37" class="mim-anchor"></a>
<a id="Weissenbach1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Weissenbach, J., Gyapay, G., Dib, C., Vignal, A., Morissette, J., Millasseau, P., Vaysseix, G., Lathrop, M.
<strong>A second-generation linkage map of the human genome.</strong>
Nature 359: 794-801, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1436057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1436057</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1436057" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/359794a0" target="_blank">Full Text</a>]
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<a id="contributors" class="mim-anchor"></a>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Cassandra L. Kniffin - updated : 3/26/2012
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Cassandra L. Kniffin - updated : 2/16/2010<br>Cassandra L. Kniffin - updated : 7/22/2008<br>Cassandra L. Kniffin - updated : 5/6/2008<br>Victor A. McKusick - updated : 3/27/2007<br>Cassandra L. Kniffin - reorganized : 8/2/2006<br>Victor A. McKusick - updated : 6/15/2004<br>Marla J. F. O'Neill - updated : 3/24/2004<br>Michael J. Wright - updated : 8/8/2001<br>Victor A. McKusick - updated : 9/1/1999<br>Victor A. McKusick - updated : 12/29/1998<br>Victor A. McKusick - updated : 10/16/1998<br>Victor A. McKusick - updated : 4/20/1998
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Creation Date:
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Victor A. McKusick : 6/4/1986
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alopez : 08/15/2024
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carol : 12/04/2014<br>alopez : 4/2/2012<br>terry : 3/28/2012<br>ckniffin : 3/26/2012<br>wwang : 5/12/2011<br>wwang : 2/18/2010<br>ckniffin : 2/16/2010<br>wwang : 7/29/2008<br>ckniffin : 7/22/2008<br>carol : 6/16/2008<br>wwang : 5/12/2008<br>ckniffin : 5/6/2008<br>alopez : 3/29/2007<br>alopez : 3/29/2007<br>terry : 3/27/2007<br>carol : 8/2/2006<br>ckniffin : 8/1/2006<br>tkritzer : 6/23/2004<br>terry : 6/15/2004<br>tkritzer : 3/30/2004<br>terry : 3/24/2004<br>alopez : 1/22/2004<br>cwells : 8/16/2001<br>cwells : 8/9/2001<br>terry : 8/8/2001<br>alopez : 7/27/2001<br>terry : 7/23/2001<br>terry : 1/22/2001<br>jlewis : 9/23/1999<br>terry : 9/1/1999<br>carol : 12/30/1998<br>terry : 12/29/1998<br>carol : 10/19/1998<br>terry : 10/16/1998<br>carol : 5/1/1998<br>terry : 4/20/1998<br>terry : 1/31/1997<br>terry : 1/29/1997<br>mark : 7/8/1996<br>terry : 6/26/1996<br>mark : 3/11/1996<br>terry : 3/6/1996<br>mark : 2/7/1996<br>terry : 2/2/1996<br>mark : 11/1/1995<br>terry : 12/21/1994<br>jason : 6/28/1994<br>mimadm : 4/14/1994<br>carol : 3/18/1994<br>carol : 10/28/1993
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<h3>
<span class="mim-font">
<strong>#</strong> 113650
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<h3>
<span class="mim-font">
BRANCHIOOTORENAL SYNDROME 1; BOR1
</span>
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<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
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</p>
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<div>
<h4>
<span class="mim-font">
BRANCHIOOTORENAL DYSPLASIA<br />
MELNICK-FRASER SYNDROME
</span>
</h4>
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<br />
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<p>
<span class="mim-text-font">
<strong>SNOMEDCT:</strong> 290006; &nbsp;
<strong>ORPHA:</strong> 107; &nbsp;
<strong>DO:</strong> 0111423; &nbsp;
</span>
</p>
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<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed 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">
8q13.3
</span>
</td>
<td>
<span class="mim-font">
Branchiootorenal syndrome 1, with or without cataracts
</span>
</td>
<td>
<span class="mim-font">
113650
</span>
</td>
<td>
<span class="mim-font">
Autosomal dominant
</span>
</td>
<td>
<span class="mim-font">
3
</span>
</td>
<td>
<span class="mim-font">
EYA1
</span>
</td>
<td>
<span class="mim-font">
601653
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>TEXT</strong>
</span>
</h4>
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because branchiootorenal syndrome-1 (BOR1) is caused by heterozygous mutation in the EYA1 gene (601653) on chromosome 8q13.</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Branchiootorenal syndrome is an autosomal dominant disorder characterized by sensorineural, conductive, or mixed hearing loss, structural defects of the outer, middle, and inner ear, branchial fistulas or cysts, and renal abnormalities ranging from mild hypoplasia to complete absence. Reduced penetrance and variable expressivity has been observed (Fraser et al., 1978). </p><p><strong><em>Genetic Heterogeneity of Branchiootorenal Syndrome</em></strong></p><p>
See also BOR2 (610896), caused by mutation in the SIX5 gene (600963) on chromosome 19q13. Sanchez-Valle et al. (2010) stated that approximately 40% of patients with BOR have mutations in the EYA1 gene and 5% have mutations in the SIX5 gene. </p><p>See also branchiootic (BO) syndrome-1 (BOS1; 602588) and the otofaciocervical syndrome (OFC; 166780), allelic disorders showing overlapping phenotypes but without renal anomalies. See also 600257 for a discussion of the BOR-Duane-hydrocephalus contiguous gene syndrome as described by Vincent et al. (1994). </p><p>Although Melnick et al. (1978) maintained that the BOR syndrome is distinct from the BO syndrome because in the latter condition renal anomaly is absent and deafness is not a constant feature, Cremers and Fikkers-van Noord (1980) concluded that the 2 syndromes are in fact a single entity. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Melnick et al. (1975, 1976) described a family in which the father and 3 of 6 living children (a son and 2 daughters) had mixed hearing loss associated with a Mondini-type cochlear malformation (hypoplasia of cochlear apex shown by tomography) and stapes fixation, cup-shaped, anteverted pinnae, bilateral prehelical pits, bilateral branchial cleft fistulas, and bilateral renal dysplasia with anomalies of the collecting system. The father and affected son also had aplasia of the lacrimal ducts. A fourth child, who died at 5 months of age, was said to have had branchial cleft fistulas and bilateral polycystic kidneys. Conditions in the same nosoembryologic community were discussed. Fitch and Srolovitz (1976) reported a woman with preauricular pits, cervical fistulas, and partial deafness who gave birth to 2 children with preauricular pits and severe renal dysgenesis. </p><p>Fraser et al. (1978) reported a kindred with the BOR syndrome. Clinical features included preauricular pits, branchial fistulas, sensorineural, conductive, or mixed hearing loss, lacrimal stenosis, and malformed external ears. Radiographic studies showed hypoplastic and malformed external ear canals, ossicles, and cochlea. Radiographic studies of the urinary tract showed minor anomalies, including partially distorted pelvicalyceal systems, narrow pelviureteric junctions, and renal dysplasia. Not all features were expressed in those affected. Fraser et al. (1978) also provided a review of previously reported cases. </p><p>Carmi et al. (1983) observed a man with the BOR syndrome and crossed renal ectopia who fathered 3 children born with bilateral renal agenesis and the Potter syndrome. Preisch et al. (1985) reported affected father, son, and daughter. The father and daughter showed unilateral tearing with eating, i.e., gustatory lacrimation. Another family reportedly showed the same phenomenon. Gustatory lacrimation, sometimes described as 'crocodile tears,' was noted by Gorlin (1976) to have been observed in over 100 cases but never in multiple members of families. Most cases are unilateral and often follow facial trauma or surgery but can occur as a congenital defect in innervation. </p><p>Fraser et al. (1983) reported 2 families in which the propositi had bilateral sensorineural hearing loss, preauricular pit or tag, and duplication of the ureters or bifid renal pelvises. Other relatives had 1 or more of these anomalies in a pattern suggesting autosomal dominant inheritance with reduced penetrance and variable expressivity. Fraser et al. (1983) suggested the term 'branchiootoureteral syndrome.' </p><p>Heimler and Lieber (1986) described a large, 4-generation kindred with branchiootorenal syndrome containing 16 individuals with confirmed manifestations of the disorder. Of these, only 4 had abnormalities in all 3 systems, whereas 7 had branchial arch and/or hearing defects but no reported renal abnormalities. However, because only 1 of these individuals had undergone detailed renal evaluation, it is possible that the incidents of renal defects in this kindred was higher than reported. </p><p>Legius et al. (1990) described father and son with a branchial cleft syndrome mixing characteristics of the BOR syndrome with those of the branchiooculofacial syndrome (BOFS; 113620). The 2 subjects showed several anomalies common to both syndromes, namely, abnormally shaped ears with deafness, cervical fistulas, preauricular ear pits, and lacrimal duct stenosis. Unilateral renal hypoplasia and dysplasia in the son were typical of the BOR syndrome. On the other hand, cleft palate and mild 'mental problems' in the father, and bilateral microphthalmia and high-arched palate in the son were more characteristic of BOFS. Neither the father nor the son showed the usual findings of BOFS, such as lip 'pseudoclefts,' abnormal nose, premature graying, or skin abnormalities. The father had been operated on for arteria lusoria (left subclavian artery passing behind the esophagus) causing dysphagia. He had also had unexplained atrial fibrillation. Lin et al. (1992) concluded that the patients of Legius et al. (1990) indeed had the BOF syndrome and that this entity is distinct from the BOR syndrome. Legius and Fryns (1992) remained dubious of a distinction. </p><p>Chitayat et al. (1992) made the diagnosis of BOR syndrome in a woman who had had 2 pregnancies complicated by oligohydramnios due to renal hypoplasia and agenesis. Both babies died neonatally of pulmonary hypoplasia. Histopathology of the temporal bones of the second child showed marked immaturity of the middle ear cleft, ossicles, facial nerve and canal, and cochlear nerve. The mother's renal ultrasound study was normal although intravenous pyelography indicated renal hypoplasia. The mother had a hearing problem first recognized at age 5 when abnormality of the right ossicular mass and antral region was found. A preauricular pit on the right in the mother was pictured. </p><p>Chen et al. (1995) described 45 individuals with the BOR syndrome, highlighting differences and similarities to findings reported by others. Characteristic temporal bone findings included hypoplasia of the cochlea, which was four-fifths of normal size with only 2 turns, dilation of the vestibular aqueduct, bulbous internal auditory canals, deep posterior fossa, and acutely angled promontories. They pictured a 3-generation family with various manifestations. </p><p>Graham and Allanson (1999) described a 14-month-old girl with unilateral congenital cholesteatoma (604183) and anomalies of the facial nerve, in addition to the branchial arch, otic, and renal malformations that comprise the BOR syndrome. The mother also had the BOR syndrome and unilateral duplication of the facial nerve. This was said to be the first study of a BOR patient with congenital cholesteatoma and the second family in which cholesteatoma and anomalies of the facial nerve were described in patients with BO/BOR syndrome. </p><p>In the branchiootorenal syndrome, renal defects, which are estimated to be severe in only 6% of patients, can include collecting system duplication, hypoplasia, cystic dysplasia, hydronephrosis, and agenesis (Izzedine et al., 2004). </p><p>Olavarrieta et al. (2008) reported an unusual Spanish family in which the male proband had BOR1 syndrome, associated with a heterozygous de novo mutation in the EYA1 gene (601653.0015), and Stickler syndrome type I (STL1; 108300), associated with a heterozygous mutation in the COL2A1 gene (120140). The patient's mother and brother, both of whom had Stickler syndrome and the COL2A1 mutation, did not carry the EYA1 mutation. All 3 patients had myopia, vitreous anomaly, and flat face, characteristic of Stickler syndrome; the brothers had cleft palate. The proband also had branchial fistulas, preauricular pits, renal agenesis, and mixed hearing loss consistent with BOR1 syndrome. The brother with Stickler syndrome had conductive hearing loss due to infection and surgery. Olavarrieta et al. (2008) emphasized that both disorders show phenotypic variability as well as overlapping features, which can complicate a precise diagnosis. Thorough clinical evaluation is necessary to identify coexisting genetic syndromes in the same patient. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The transmission pattern of BOR1 in 6 families reported by Stockley et al. (2009) was consistent with autosomal dominant inheritance. The heterozygous mutations in the EYA1 gene that were identified in 5 patients with BOR1 by Stockley et al. (2009) occurred de novo. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Diagnosis</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Chang et al. (2004) sought to refine the clinical diagnosis of the BOR syndrome by analyzing phenotypic data from families segregating EYA1 disease-causing mutations. They presented diagnostic criteria in the form of a list of major and minor criteria and suggested that an affected individual must have at least 3 major criteria, 2 major criteria and at least 2 minor criteria, or 1 major criterion and an affected first-degree relative meeting criteria for BOR syndrome. Major criteria included branchial anomalies, deafness, preauricular pits, and renal anomalies. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Kumar et al. (1992) found linkage to genetic markers on chromosome 8q in a 4-generation family with BOR syndrome (maximum lod score of 4.0 at theta = 0.05 with marker D8S165). By multipoint analysis in 2 affected BOR families, Smith et al. (1992) found linkage to a marker telomeric to 8q12-q13 (maximum lod score of 3.79 at theta = 0.084). The diagnosis of BOR syndrome was based on the presence of at least 2 of the following features: preauricular pits, lop-ear deformity, branchial fistulas, hearing loss, and renal anomalies. </p><p>Wang et al. (1994), who referred to this disorder alternatively as the 'Melnick-Fraser syndrome,' used multipoint linkage analysis based on microsatellite markers (Weissenbach et al., 1992) to map the BOR locus to a 6-cM region of 8q flanked by D8S543 and D8S84. Ni et al. (1994) concluded that BOR is flanked by D8S530 and D8S279. Based on multipoint analysis using a set of 13 polymorphic markers from the BOR region in 2 large, clinically well-characterized families, Kumar et al. (1996) concluded that the BOR locus is within a 2-cM region between markers D8S543 and D8S530. They identified YACs that map in the critical region and characterized them by fluorescence in situ hybridization and pulsed field gel electrophoresis. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In patients with the BOR syndrome, Abdelhak et al. (1997) identified a large deletion and 7 different mutations in the EYA1 gene (see, e.g., 601653.0001; 601653.0002). </p><p>Rickard et al. (2000) studied 32 individuals with BOR syndrome or an overlapping phenotype. Eighteen of the cases had what the authors classified as classic BOR syndrome, exhibiting at least 3 of the major features: hearing loss, branchial defects, ear pits, and renal anomalies. Twelve cases had 1 or 2 major clinical features and were designated as having an atypical form of the condition. Two cases had otofaciocervical syndrome (166780). Mutations in the EYA1 gene were found in 11 of 18 cases of classic BOR syndrome (see, e.g., 601653.0011). There were no apparent clinical differences between those with and those without EYA1 mutations. No mutations were detected in any subjects with atypical BOR syndrome or OFC syndrome. </p><p>Vervoort et al. (2002) noted that in up to one-half of reported cases of BOR syndrome, EYA1 screening was negative, suggesting genetic heterogeneity. Using SSCP and direct sequencing, they screened the coding region of the EYA1 gene in a panel of BOR families linked to chromosome 8. Only 1 point mutation in 5 probands was detected. However, using Southern blot analysis, complex rearrangements such as inversions and large deletions were identified in the other 4 patients. Vervoort et al. (2002) concluded that more complex rearrangements may have been missed in earlier studies, which commonly used only SSCP and sequencing for mutation detection. </p><p>Chang et al. (2004) stated that 51 different mutations in the EYA1 gene had been associated with the BOR syndrome. There was no single common mutation; the majority of mutations were unique to individual families. About 20% of cases had complex rearrangements of EYA1. </p><p>Orten et al. (2008) identified 70 different EYA1 mutations in 89 of 435 families with BOR or a related phenotype. EYA1 mutations were found in 76 (31%) of 248 families fitting established clinical criteria for BOR and 13 (7%) of 187 families with a questionable BOR phenotype. Most of the mutations were private, and there were no apparent genotype/phenotype correlations. </p><p>Stockley et al. (2009) identified EYA1 mutations (see, e.g., 601653.0016) in 14 (82%) of 17 unrelated probands with BOR syndrome. De novo mutations were confirmed in 45% of the patients. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Cytogenetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Sanchez-Valle et al. (2010) reported 3 unrelated patients with variable manifestations of BOR syndrome associated with heterozygous nonrecurrent genomic deletions of chromosome 8q13 including the EYA1 gene and other genes. Two of the deletions were proven to occur de novo. All patients had a clinical diagnosis of BOR, including ear and facial anomalies, hearing loss, and renal anomalies or dysfunction. Two had mild developmental delay and 1 had severe developmental delay. The deletions ranged in size from 2.7 to 8.7 Mb, and involved at least 6 genes in addition to EYA1; the patient with the most severe phenotype had the largest deletion. Although all had short stature, none had the typical facies or musculoskeletal features characteristic of otofaciocervical syndrome. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Population Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Fraser et al. (1980) suggested that the frequency of the BOR syndrome may be higher than generally realized. Among 421 white children in Montreal schools for the deaf, 19 (4.5%) of 421 deaf children had preauricular pits, compared to 0.7% of newborn white infants. The BOR syndrome was identified in 4 of the 9 families that agreed to family investigations, including audiograms and intravenous pyelograms. The authors estimated that 6% of heterozygotes have severe renal dysplasia and that a preauricular pit at birth suggests that the child has at least 1 chance in 200 of severe hearing loss. Fraser et al. (1980) estimated the frequency of the BOR syndrome to be 1 in 40,000. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Cremers et al. (1981); Gimsing and Dyrmose (1986); Lindsay and
Hinojosa (1978)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Abdelhak, S., Kalatzis, V., Heilig, R., Compain, S., Samson, D., Vincent, C., Weil, D., Cruaud, C., Sahly, I., Leibovici, M., Bitner-Glindzicz, M., Francis, M., Lacombe, D., Vigneron, J., Charachon, R., Boven, K., Bedbeder, P., Van Regemorter, N., Weissenbach, J., Petit, C.
<strong>A human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene family.</strong>
Nature Genet. 15: 157-164, 1997.
[PubMed: 9020840]
[Full Text: https://doi.org/10.1038/ng0297-157]
</p>
</li>
<li>
<p class="mim-text-font">
Carmi, R., Binshtock, M., Abeliovich, D., Bar-Ziv, J.
<strong>The branchio-oto-renal (BOR) syndrome: report of bilateral renal agenesis in three sibs.</strong>
Am. J. Med. Genet. 14: 625-627, 1983.
[PubMed: 6846397]
[Full Text: https://doi.org/10.1002/ajmg.1320140405]
</p>
</li>
<li>
<p class="mim-text-font">
Chang, E. H., Menezes, M., Meyer, N. C., Cucci, R. A., Vervoort, V. S., Schwartz, C. E., Smith, R. J. H.
<strong>Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences.</strong>
Hum. Mutat. 23: 582-589, 2004.
[PubMed: 15146463]
[Full Text: https://doi.org/10.1002/humu.20048]
</p>
</li>
<li>
<p class="mim-text-font">
Chen, A., Francis, M., Ni, L., Cremers, C. W. R. J., Kimberling, W. J., Sato, Y., Phelps, P. D., Bellman, S. C., Wagner, M. J., Pembrey, M., Smith, R. J. H.
<strong>Phenotypic manifestations of branchiootorenal syndrome.</strong>
Am. J. Med. Genet. 58: 365-370, 1995.
[PubMed: 8533848]
[Full Text: https://doi.org/10.1002/ajmg.1320580413]
</p>
</li>
<li>
<p class="mim-text-font">
Chitayat, D., Hodgkinson, K. A., Chen, M.-F., Haber, G. D., Nakishima, S., Sando, I.
<strong>Branchio-oto-renal syndrome: further delineation of an underdiagnosed syndrome.</strong>
Am. J. Med. Genet. 43: 970-975, 1992.
[PubMed: 1415348]
[Full Text: https://doi.org/10.1002/ajmg.1320430613]
</p>
</li>
<li>
<p class="mim-text-font">
Cremers, C. W. R. J., Fikkers-van Noord, M.
<strong>The earpits-deafness syndrome: clinical and genetic aspects.</strong>
Int. J. Pediat. Otorhinolaryng. 2: 309-322, 1980.
[PubMed: 6964893]
[Full Text: https://doi.org/10.1016/0165-5876(80)90036-1]
</p>
</li>
<li>
<p class="mim-text-font">
Cremers, C. W. R. J., Thijssen, H. O. M., Fischer, A. J. E. M., Marres, E. H. M. A.
<strong>Otological aspects of the earpit-deafness syndrome.</strong>
ORL 43: 223-239, 1981.
[PubMed: 6973119]
[Full Text: https://doi.org/10.1159/000275541]
</p>
</li>
<li>
<p class="mim-text-font">
Fitch, N., Srolovitz, H.
<strong>Severe renal dysplasia produced by a dominant gene.</strong>
Am. J. Dis. Child. 130: 1356-1357, 1976.
[PubMed: 998578]
[Full Text: https://doi.org/10.1001/archpedi.1976.02120130062012]
</p>
</li>
<li>
<p class="mim-text-font">
Fraser, F. C., Ayme, S., Halal, F., Sproule, J.
<strong>Autosomal dominant duplication of the renal collection system, hearing loss, and external ear anomalies: a new syndrome.</strong>
Am. J. Med. Genet. 14: 473-478, 1983.
[PubMed: 6859100]
[Full Text: https://doi.org/10.1002/ajmg.1320140311]
</p>
</li>
<li>
<p class="mim-text-font">
Fraser, F. C., Ling, D., Clogg, D., Nogrady, B.
<strong>Genetic aspects of the BOR syndrome--branchial fistulas, ear pits, hearing loss, and renal anomalies.</strong>
Am. J. Med. Genet. 2: 241-252, 1978.
[PubMed: 263442]
[Full Text: https://doi.org/10.1002/ajmg.1320020305]
</p>
</li>
<li>
<p class="mim-text-font">
Fraser, F. C., Sproule, J. R., Halal, F.
<strong>Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss.</strong>
Am. J. Med. Genet. 7: 341-349, 1980.
[PubMed: 7468659]
[Full Text: https://doi.org/10.1002/ajmg.1320070316]
</p>
</li>
<li>
<p class="mim-text-font">
Gimsing, S., Dyrmose, J.
<strong>Branchio-oto-renal dysplasia in three families.</strong>
Ann. Otol. Rhinol. Laryng. 95: 421-426, 1986.
[PubMed: 3740720]
[Full Text: https://doi.org/10.1177/000348948609500419]
</p>
</li>
<li>
<p class="mim-text-font">
Gorlin, R. J.
<strong>Personal Communication.</strong>
Minneapolis, Minn. 1976.
</p>
</li>
<li>
<p class="mim-text-font">
Graham, G. E., Allanson, J. E.
<strong>Congenital cholesteatoma and malformations of the facial nerve: rare manifestations of the BOR syndrome.</strong>
Am. J. Med. Genet. 86: 20-26, 1999.
[PubMed: 10440824]
[Full Text: https://doi.org/10.1002/(sici)1096-8628(19990903)86:1&lt;20::aid-ajmg5&gt;3.0.co;2-h]
</p>
</li>
<li>
<p class="mim-text-font">
Heimler, A., Lieber, E.
<strong>Branchio-oto-renal syndrome: reduced penetrance and variable expressivity in four generations of a large kindred.</strong>
Am. J. Med. Genet. 25: 15-27, 1986.
[PubMed: 3799714]
[Full Text: https://doi.org/10.1002/ajmg.1320250104]
</p>
</li>
<li>
<p class="mim-text-font">
Izzedine, H., Tankere, F., Launay-Vacher, V., Deray, G.
<strong>Ear and kidney syndromes: molecular versus clinical approach.</strong>
Kidney Int. 65: 369-385, 2004.
[PubMed: 14717907]
[Full Text: https://doi.org/10.1111/j.1523-1755.2004.00390.x]
</p>
</li>
<li>
<p class="mim-text-font">
Kumar, S., Kimberling, W. J., Kenyon, J. B., Smith, R. J. H., Marres, E. H. M. A., Cremers, C. W. R. J.
<strong>Autosomal dominant branchio-oto-renal syndrome--localization of a disease gene to chromosome 8q by linkage in a Dutch family.</strong>
Hum. Molec. Genet. 1: 491-495, 1992.
[PubMed: 1307249]
[Full Text: https://doi.org/10.1093/hmg/1.7.491]
</p>
</li>
<li>
<p class="mim-text-font">
Kumar, S., Kimberling, W. J., Lanyi, A., Sumegi, J., Pinnt, J., Ing, P., Tinley, S., Marres, H. A. M., Cremers, C. W. R. J.
<strong>Narrowing the genetic interval and yeast artificial chromosome map in the branchio-oto-renal region on chromosome 8q.</strong>
Genomics 31: 71-79, 1996.
[PubMed: 8808282]
[Full Text: https://doi.org/10.1006/geno.1996.0011]
</p>
</li>
<li>
<p class="mim-text-font">
Legius, E., Fryns, J. P., Van Den Berghe, H.
<strong>Dominant branchial cleft syndrome with characteristics of both branchio-oto-renal and branchio-oculo-facial syndrome.</strong>
Clin. Genet. 37: 347-350, 1990.
[PubMed: 2354548]
[Full Text: https://doi.org/10.1111/j.1399-0004.1990.tb03517.x]
</p>
</li>
<li>
<p class="mim-text-font">
Legius, E., Fryns, J.-P.
<strong>Reply to Dr. Lin. (Letter)</strong>
Clin. Genet. 41: 223, 1992.
</p>
</li>
<li>
<p class="mim-text-font">
Lin, A. E., Doherty, R., Lea, D.
<strong>Branchio-oculo-facial and branchio-oto-renal syndromes are distinct entities. (Letter)</strong>
Clin. Genet. 41: 221-222, 1992.
[PubMed: 1576761]
[Full Text: https://doi.org/10.1111/j.1399-0004.1992.tb03667.x]
</p>
</li>
<li>
<p class="mim-text-font">
Lindsay, J. R., Hinojosa, R.
<strong>Ear anomalies associated with renal dysplasia and immunodeficiency disease: a histopathological study.</strong>
Ann. Otol. 87: 10-17, 1978.
</p>
</li>
<li>
<p class="mim-text-font">
Melnick, M., Bixler, D., Nance, W. E., Silk, K., Yune, H.
<strong>Familial branchio-oto-renal dysplasia: a new addition to the branchial arch syndromes.</strong>
Clin. Genet. 9: 25-34, 1976.
[PubMed: 1248162]
[Full Text: https://doi.org/10.1111/j.1399-0004.1976.tb01546.x]
</p>
</li>
<li>
<p class="mim-text-font">
Melnick, M., Bixler, D., Silk, K., Yune, H., Nance, W. E.
<strong>Autosomal dominant branchiootorenal dysplasia.</strong>
Birth Defects Orig. Art. Ser. XI(5): 121-128, 1975.
</p>
</li>
<li>
<p class="mim-text-font">
Melnick, M., Hodes, M. E., Nance, W. E., Yune, H., Sweeney, A.
<strong>Branchio-oto-renal dysplasia and branchio-oto dysplasia: two distinct autosomal dominant disorders.</strong>
Clin. Genet. 13: 425-442, 1978.
[PubMed: 657583]
[Full Text: https://doi.org/10.1111/j.1399-0004.1978.tb04142.x]
</p>
</li>
<li>
<p class="mim-text-font">
Ni, L., Wagner, M. J., Kimberling, W. J., Pembrey, M. E., Grundfast, K. M., Kumar, S., Daiger, S. P., Wells, D. E., Johnson, K., Smith, R. J. H.
<strong>Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis.</strong>
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[Full Text: https://doi.org/10.1002/ajmg.1320510222]
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<strong>Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes.</strong>
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Orten, D. J., Fischer, S. M., Sorensen, J. L., Radhakrishna, U., Cremers, C. W. R. J., Marres, H. A. M., Van Camp, G., Welch, K. O., Smith, R. J. H., Kimberling, W. J.
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Preisch, J. W., Bixler, D., Ellis, F. D.
<strong>Gustatory lacrimation in association with the branchio-oto-renal syndrome.</strong>
Clin. Genet. 27: 506-509, 1985.
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Rickard, S., Boxer, M., Trompeter, R., Bitner-Glindzicz, M.
<strong>Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes. (Letter)</strong>
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Sanchez-Valle, A., Wang, X., Potocki, L., Xia, Z., Kang, S.-H. L., Carlin, M. E., Michel, D., Williams, P., Cabrera-Meza, G., Brundage, E. K., Eifert, A. L., Stankiewicz, P., Cheung, S. W., Lalani, S. R.
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<strong>Localization of the gene for branchiootorenal syndrome to chromosome 8q.</strong>
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Stockley, T. L., Mendoza-Londono, R., Propst, E. J., Sodhi, S., Dupuis, L., Papsin, B. C.
<strong>A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: implications for molecular diagnostics and disease mechanism.</strong>
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<strong>Genomic rearrangements of EYA1 account for a large fraction of families with BOR syndrome.</strong>
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<strong>A proposed new contiguous gene syndrome on 8q consists of branchio-oto-renal (BOR) syndrome, Duane syndrome, a dominant form of hydrocephalus and trapeze aplasia; implications for the mapping of the BOR gene.</strong>
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