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<title>
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Entry
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- #608864 - OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6
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- OMIM
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<span class="h4">#608864</span>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/608864"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS119530"> <strong>Phenotypic Series</strong> </a>
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<a href="#description">Description</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<div><a href="https://clinicaltrials.gov/search?cond=(OROFACIAL CLEFT) OR (IRF6)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=18395&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/9044" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/irf6" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=199306" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div style="display: table-cell;">Animal Models</div>
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</span>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0080593" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/608864" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 199306<br />
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<strong>DO:</strong> 0080593<br />
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">ICD+</a>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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608864
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6
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</h3>
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</div>
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<div>
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<br />
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<a id="alternativeTitles" class="mim-anchor"></a>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
|
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 6
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
|
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<th>
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Location
|
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</th>
|
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<th>
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Phenotype
|
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</th>
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<th>
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Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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<th>
|
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Gene/Locus
|
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</th>
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<th>
|
|
Gene/Locus <br /> MIM number
|
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</th>
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</tr>
|
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</thead>
|
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<tbody>
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<tr>
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<td>
|
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<span class="mim-font">
|
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<a href="/geneMap/1/1670?start=-3&limit=10&highlight=1670">
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1q32.2
|
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</a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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{Orofacial cleft 6}
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/608864"> 608864 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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IRF6
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/607199"> 607199 </a>
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
|
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<a href="/clinicalSynopsis/608864" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
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<span class="caret"></span>
|
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<span class="sr-only">Toggle Dropdown</span>
|
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</button>
|
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</div>
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<div class="btn-group">
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<a href="/phenotypicSeries/PS119530" class="btn btn-info" role="button"> Phenotypic Series </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
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<span class="caret"></span>
|
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<span class="sr-only">Toggle Dropdown</span>
|
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</button>
|
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</div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/608864" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/608864" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
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</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 />
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|
|
|
</span>
|
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</div>
|
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|
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</div>
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|
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</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
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|
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|
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|
|
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cleft lip, isolated <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1332326002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1332326002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837217&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837217</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q36" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q36</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q36.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q36.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.10</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0410030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0410030</a>]</span><br /> -
|
|
Cleft palate, isolated <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>]</span> <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">[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 /> -
|
|
Cleft lip and cleft palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/66948001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">66948001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q37" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q37</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35-Q37" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35-Q37</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q37.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q37.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.20</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158646&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158646</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000202" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000202</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
|
|
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|
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</div>
|
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|
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</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Genetic heterogeneity (see OFC1, <a href="/entry/119530">119530</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 /> -
|
|
Allelic disorder to van der Woude syndrome (VWS, <a href="/entry/119300">119300</a>) and popliteal pterygium syndrome (PPS, <a href="/entry/119500">119500</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">
|
|
|
|
- Susceptibility conferred by mutation in the interferon regulatory factor 6 gene (IRF6, <a href="/entry/607199#0013">607199.0013</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Orofacial cleft
|
|
- <a href="/phenotypicSeries/PS119530">PS119530</a>
|
|
- 16 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/572?start=-3&limit=10&highlight=572"> 1p33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613857"> Orofacial cleft 13 </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613857"> 613857 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613857"> OFC13 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613857"> 613857 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/665?start=-3&limit=10&highlight=665"> 1p31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615892"> Orofacial cleft 14 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615892"> 615892 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615892"> OFC14 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615892"> 615892 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/1/1670?start=-3&limit=10&highlight=1670"> 1q32.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608864"> {Orofacial cleft 6} </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/608864"> 608864 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607199"> IRF6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607199"> 607199 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/313?start=-3&limit=10&highlight=313"> 2p13 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602966"> Orofacial cleft 2 </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602966"> 602966 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602966"> OFC2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/602966"> 602966 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/924?start=-3&limit=10&highlight=924"> 2q33.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613705"> ?Orofacial cleft 10 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Isolated cases">IC</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/613705"> 613705 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601912"> SUMO1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601912"> 601912 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/957?start=-3&limit=10&highlight=957"> 3q28 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618149"> Orofacial cleft 8 </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/618149"> 618149 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603273"> TP63 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603273"> 603273 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/63?start=-3&limit=10&highlight=63"> 4p16.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608874"> Orofacial cleft 5 </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/608874"> 608874 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/142983"> MSX1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/142983"> 142983 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/325?start=-3&limit=10&highlight=325"> 4q21-q31 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608371"> Orofacial cleft 4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608371"> 608371 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608371"> OFC4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608371"> 608371 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/37?start=-3&limit=10&highlight=37"> 6p24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/119530"> Orofacial cleft-1 </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/119530"> 119530 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/119530"> OFC1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/119530"> 119530 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/8/577?start=-3&limit=10&highlight=577"> 8q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612858"> Orofacial cleft 12 </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612858"> 612858 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612858"> OFC12 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612858"> 612858 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/1019?start=-3&limit=10&highlight=1019"> 11q23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/225060"> Orofacial cleft 7 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/225060"> 225060 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600644"> NECTIN1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600644"> 600644 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/1019?start=-3&limit=10&highlight=1019"> 11q23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/225060"> Cleft lip/palate-ectodermal dysplasia syndrome </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/225060"> 225060 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600644"> NECTIN1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600644"> 600644 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/13/291?start=-3&limit=10&highlight=291"> 13q33.1-q34 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610361"> Orofacial cleft 9 </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="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610361"> 610361 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610361"> OFC9 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610361"> 610361 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/246?start=-3&limit=10&highlight=246"> 14q22.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600625"> Orofacial cleft 11 </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/600625"> 600625 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/112262"> BMP4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/112262"> 112262 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/17/727?start=-3&limit=10&highlight=727"> 17q21.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616788"> ?Orofacial cleft 15 </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>
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<p>A number sign (#) is used with this entry because of evidence that susceptibility to orofacial cleft-6 (OFC6) is conferred by variation in an enhancer of the IRF6 gene (<a href="/entry/607199">607199</a>) on chromosome 1q32.</p>
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<p>Orofacial cleft-6 (OFD6) is characterized by isolated cleft lip or cleft palate or by cleft lip and cleft palate (<a href="#5" class="mim-tip-reference" title="Rahimov, F., Marazita, M. L., Visel, A., Cooper, M. E., Hitchler, M. J., Rubini, M., Domann, F. E., Govil, M., Christensen, K., Bille, C., Melbye, M., Jugessur, A., and 11 others. <strong>Disruption of an AP-2-alpha binding site in an IRF6 enhancer is associated with cleft lip.</strong> Nature Genet. 40: 1341-1347, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18836445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18836445</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18836445[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.242" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18836445">Rahimov et al., 2008</a>; <a href="#4" class="mim-tip-reference" title="Pan, Y., Ma, J., Zhang, W., Du, Y., Niu, Y., Wang, M., Zhang, Z., Wang, L. <strong>IRF6 polymorphisms are associated with nonsyndromic orofacial clefts in a Chinese Han population.</strong> Am. J. Med. Genet. 152A: 2505-2511, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20799332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20799332</a>] [<a href="https://doi.org/10.1002/ajmg.a.33624" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20799332">Pan et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20799332+18836445" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>For a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic CL/P, see <a href="/entry/119530">119530</a>.</p>
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<p>In van der Woude syndrome (VWS; <a href="/entry/119300">119300</a>), lower lip pits are associated with CL/P or cleft palate only. Since none of these traits is present in all persons who carry the VWS mutation, some individual or familial VWS cases, especially those lacking lip pits, are indiscernible from nonsyndromic CL/P, raising the question of whether allelic variation at the VWS locus could underlie nonsyndromic CL/P. By linkage studies, <a href="#2" class="mim-tip-reference" title="Hecht, J. T., Wang, Y., Blanton, S. H., Daiger, S. P. <strong>Van der Woude syndrome and nonsyndromic cleft lip and palate. (Letter)</strong> Am. J. Hum. Genet. 51: 442-444, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1642245/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1642245</a>]" pmid="1642245">Hecht et al. (1992)</a> excluded the region of chromosome 1q which carries the van der Woude syndrome as the site of the mutation in this disorder and in isolated cleft palate. <a href="#3" class="mim-tip-reference" title="Houdayer, C., Bonaiti-Pellie, C., Erguy, C., Soupre, V., Dondon, M.-G., Burglen, L., Cougoureux, E., Couderc, R., Vazquez, M.-P., Bahuau, M. <strong>Possible relationship between the van der Woude syndrome (vWS) locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P).</strong> Am. J. Med. Genet. 104: 86-92, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11746036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11746036</a>] [<a href="https://doi.org/10.1002/1096-8628(20011115)104:1<86::aid-ajmg10053>3.0.co;2-e" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11746036">Houdayer et al. (2001)</a> could find no evidence for linkage of nonsyndromic CL/P to the VWS locus on 1q32. However, in a parametric analysis using the transmission/disequilibrium test in 106 nonsyndromic CL/P triads (both parents and a child), they found a significant p value of 0.04 for D1S205, supporting involvement of the VWS locus in nonsyndromic CL/P in a complex, modifying/polygenic manner rather than as a monogenic major disease locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1642245+11746036" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a group of 6,755 members from 1,968 families in which at least 1 person had isolated CL/P, <a href="#8" class="mim-tip-reference" title="Zucchero, T. M., Cooper, M. E., Maher, B. S., Daack-Hirsch, S., Nepomuceno, B., Ribeiro, L., Caprau, D., Christensen, K., Suzuki, Y., Machida, J., Natsume, N., Yoshiura, K.-I., and 17 others. <strong>Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate.</strong> New Eng. J. Med. 351: 769-780, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15317890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15317890</a>] [<a href="https://doi.org/10.1056/NEJMoa032909" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15317890">Zucchero et al. (2004)</a> found significant association with the V allele at a V274I polymorphism (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2235371;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs2235371</a>) in the IRF6 gene. Variation at IRF6 was responsible for 12% of the genetic contribution to cleft lip or palate and tripled the risk of recurrence in families that already had 1 affected child. <a href="#8" class="mim-tip-reference" title="Zucchero, T. M., Cooper, M. E., Maher, B. S., Daack-Hirsch, S., Nepomuceno, B., Ribeiro, L., Caprau, D., Christensen, K., Suzuki, Y., Machida, J., Natsume, N., Yoshiura, K.-I., and 17 others. <strong>Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate.</strong> New Eng. J. Med. 351: 769-780, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15317890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15317890</a>] [<a href="https://doi.org/10.1056/NEJMoa032909" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15317890">Zucchero et al. (2004)</a> noted that their findings suggested that the V allele itself was not causal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15317890" 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="#6" class="mim-tip-reference" title="Scapoli, L., Palmieri, A., Martinelli, M., Pezzetti, F., Carinci, P., Tognon, M., Carinci, F. <strong>Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population.</strong> Am. J. Hum. Genet. 76: 180-183, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15558496/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15558496</a>] [<a href="https://doi.org/10.1086/427344" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15558496">Scapoli et al. (2005)</a> investigated 4 markers spanning the IRF6 locus, using the transmission disequilibrium test in a sample of 219 Italian triads of patients and their parents. Strong evidence of linkage disequilibrium was found between markers and disease in both single-allele (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2235375;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs2235375</a>; P = 0.002) and haplotype (P = 0.0005) analyses in that disease. These findings confirmed the contribution of IRF6 in the etiology of nonsyndromic cleft lip and palate and strongly supported its involvement in populations of European ancestry. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15558496" 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 51 multiplex families and 184 simplex parent-child trios with nonsyndromic cleft lip and palate and 21 parent-child trios with a positive family history, <a href="#1" class="mim-tip-reference" title="Blanton, S. H., Cortez, A., Stal, S., Mulliken, J. B., Finnell, R. H., Hecht, J. T. <strong>Variation in IRF6 contributes to nonsyndromic cleft lip and palate.</strong> Am. J. Med. Genet. 137A: 259-262, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16096995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16096995</a>] [<a href="https://doi.org/10.1002/ajmg.a.30887" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16096995">Blanton et al. (2005)</a> examined the same SNPs as <a href="#6" class="mim-tip-reference" title="Scapoli, L., Palmieri, A., Martinelli, M., Pezzetti, F., Carinci, P., Tognon, M., Carinci, F. <strong>Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population.</strong> Am. J. Hum. Genet. 76: 180-183, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15558496/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15558496</a>] [<a href="https://doi.org/10.1086/427344" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15558496">Scapoli et al. (2005)</a> and also detected an altered transmission of IRF6 alleles. <a href="#1" class="mim-tip-reference" title="Blanton, S. H., Cortez, A., Stal, S., Mulliken, J. B., Finnell, R. H., Hecht, J. T. <strong>Variation in IRF6 contributes to nonsyndromic cleft lip and palate.</strong> Am. J. Med. Genet. 137A: 259-262, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16096995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16096995</a>] [<a href="https://doi.org/10.1002/ajmg.a.30887" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16096995">Blanton et al. (2005)</a> suggested that IRF6 plays a role in nonsyndromic cleft lip and palate. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16096995+15558496" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Vieira, A. R., Cooper, M. E., Marazita, M. L., Orioli, I. M., Castilla, E. E. <strong>Interferon regulatory factor 6 (IRF6) is associated with oral-facial cleft in individuals that originate in South America.</strong> Am. J. Med. Genet. 143A: 2075-2078, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17702008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17702008</a>] [<a href="https://doi.org/10.1002/ajmg.a.31884" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17702008">Vieira et al. (2007)</a> investigated 172 mother-affected child pairs from the Latin American Collaborative Study of Congenital Malformations (ECLMAC) study for an association of nonsyndromic cleft lip and palate and IRF6. The ECLMAC population was included in the original IRF6 association study published by <a href="#8" class="mim-tip-reference" title="Zucchero, T. M., Cooper, M. E., Maher, B. S., Daack-Hirsch, S., Nepomuceno, B., Ribeiro, L., Caprau, D., Christensen, K., Suzuki, Y., Machida, J., Natsume, N., Yoshiura, K.-I., and 17 others. <strong>Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate.</strong> New Eng. J. Med. 351: 769-780, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15317890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15317890</a>] [<a href="https://doi.org/10.1056/NEJMoa032909" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15317890">Zucchero et al. (2004)</a>, but no association was detected. <a href="#7" class="mim-tip-reference" title="Vieira, A. R., Cooper, M. E., Marazita, M. L., Orioli, I. M., Castilla, E. E. <strong>Interferon regulatory factor 6 (IRF6) is associated with oral-facial cleft in individuals that originate in South America.</strong> Am. J. Med. Genet. 143A: 2075-2078, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17702008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17702008</a>] [<a href="https://doi.org/10.1002/ajmg.a.31884" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17702008">Vieira et al. (2007)</a> separated patients with mitochondrial DNA haplotype D (more frequent in Native American subgroups) from other mitochondrial subtypes. An association of IRF6 (specifically the allelic variant V274I) and oral facial cleft was found in patients with mitochondrial haplotypes other than haplotype D. <a href="#7" class="mim-tip-reference" title="Vieira, A. R., Cooper, M. E., Marazita, M. L., Orioli, I. M., Castilla, E. E. <strong>Interferon regulatory factor 6 (IRF6) is associated with oral-facial cleft in individuals that originate in South America.</strong> Am. J. Med. Genet. 143A: 2075-2078, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17702008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17702008</a>] [<a href="https://doi.org/10.1002/ajmg.a.31884" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17702008">Vieira et al. (2007)</a> suggested that the association of nonsyndromic oral facial cleft and IRF6 in South Americans relates to ancestral origin. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17702008+15317890" 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="#5" class="mim-tip-reference" title="Rahimov, F., Marazita, M. L., Visel, A., Cooper, M. E., Hitchler, M. J., Rubini, M., Domann, F. E., Govil, M., Christensen, K., Bille, C., Melbye, M., Jugessur, A., and 11 others. <strong>Disruption of an AP-2-alpha binding site in an IRF6 enhancer is associated with cleft lip.</strong> Nature Genet. 40: 1341-1347, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18836445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18836445</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18836445[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.242" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18836445">Rahimov et al. (2008)</a> found that the A allele of a common SNP (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs642961;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs642961</a>, G-A) in an IRF6 enhancer within the 5-prime untranslated region of the IRF6 gene was significantly overtransmitted (p = 1 x 10(-11)) in families with nonsyndromic cleft lip/palate, particularly in those with cleft lip only. There was a dosage effect of the A allele, with a relative risk for cleft lip of 1.68 for the AG genotype and 2.40 for the AA genotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18836445" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a hospital-based case-control study of 134 Han Chinese patients with nonsyndromic orofacial clefting (NSOC) and 115 controls matched for age, sex, and residential area, <a href="#4" class="mim-tip-reference" title="Pan, Y., Ma, J., Zhang, W., Du, Y., Niu, Y., Wang, M., Zhang, Z., Wang, L. <strong>IRF6 polymorphisms are associated with nonsyndromic orofacial clefts in a Chinese Han population.</strong> Am. J. Med. Genet. 152A: 2505-2511, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20799332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20799332</a>] [<a href="https://doi.org/10.1002/ajmg.a.33624" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20799332">Pan et al. (2010)</a> genotyped 2 polymorphisms in the IRF6 gene, <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2235371;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs2235371</a> and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs642961;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs642961</a>. In single-locus analyses, they found that the <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs642961;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs642961</a> AG and AG/AA genotypes were associated with increased risk of NSOC, especially cleft lip with or without cleft palate (CL/P) and cleft lip with cleft palate (CLP), whereas significantly decreased risks were associated with <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2235371;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs2235371</a> CT and CT/TT genotypes. In combined analysis using the <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs642961;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs642961</a> A allele and the <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2235371;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs2235371</a> C allele as the risk alleles, <a href="#4" class="mim-tip-reference" title="Pan, Y., Ma, J., Zhang, W., Du, Y., Niu, Y., Wang, M., Zhang, Z., Wang, L. <strong>IRF6 polymorphisms are associated with nonsyndromic orofacial clefts in a Chinese Han population.</strong> Am. J. Med. Genet. 152A: 2505-2511, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20799332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20799332</a>] [<a href="https://doi.org/10.1002/ajmg.a.33624" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20799332">Pan et al. (2010)</a> found that genotypes containing 2 to 4 risk alleles conferred high risk for NSOC, CL/P, and CLP (odds ratios of 2.15, 2.06, and 2.66, respectively). Analysis of lip skin tissue adjacent to the cleft revealed that <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs642961;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs642961</a> genotypes were associated with differential levels of IRF6 mRNA and protein expression in an allele-dosage manner. <a href="#4" class="mim-tip-reference" title="Pan, Y., Ma, J., Zhang, W., Du, Y., Niu, Y., Wang, M., Zhang, Z., Wang, L. <strong>IRF6 polymorphisms are associated with nonsyndromic orofacial clefts in a Chinese Han population.</strong> Am. J. Med. Genet. 152A: 2505-2511, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20799332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20799332</a>] [<a href="https://doi.org/10.1002/ajmg.a.33624" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20799332">Pan et al. (2010)</a> concluded that IRF6 genetic variants contribute to the etiology of NSOC in the Han Chinese population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20799332" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="1" class="mim-anchor"></a>
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<a id="Blanton2005" class="mim-anchor"></a>
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Blanton, S. H., Cortez, A., Stal, S., Mulliken, J. B., Finnell, R. H., Hecht, J. T.
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<strong>Variation in IRF6 contributes to nonsyndromic cleft lip and palate.</strong>
|
|
Am. J. Med. Genet. 137A: 259-262, 2005.
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16096995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16096995</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16096995" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.30887" target="_blank">Full Text</a>]
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Hecht, J. T., Wang, Y., Blanton, S. H., Daiger, S. P.
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<strong>Van der Woude syndrome and nonsyndromic cleft lip and palate. (Letter)</strong>
|
|
Am. J. Hum. Genet. 51: 442-444, 1992.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1642245/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1642245</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1642245" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Houdayer, C., Bonaiti-Pellie, C., Erguy, C., Soupre, V., Dondon, M.-G., Burglen, L., Cougoureux, E., Couderc, R., Vazquez, M.-P., Bahuau, M.
|
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<strong>Possible relationship between the van der Woude syndrome (vWS) locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P).</strong>
|
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Am. J. Med. Genet. 104: 86-92, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11746036/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11746036</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11746036" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/1096-8628(20011115)104:1<86::aid-ajmg10053>3.0.co;2-e" target="_blank">Full Text</a>]
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Pan, Y., Ma, J., Zhang, W., Du, Y., Niu, Y., Wang, M., Zhang, Z., Wang, L.
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<strong>IRF6 polymorphisms are associated with nonsyndromic orofacial clefts in a Chinese Han population.</strong>
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Am. J. Med. Genet. 152A: 2505-2511, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20799332/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20799332</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20799332" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.33624" target="_blank">Full Text</a>]
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Rahimov, F., Marazita, M. L., Visel, A., Cooper, M. E., Hitchler, M. J., Rubini, M., Domann, F. E., Govil, M., Christensen, K., Bille, C., Melbye, M., Jugessur, A., and 11 others.
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<strong>Disruption of an AP-2-alpha binding site in an IRF6 enhancer is associated with cleft lip.</strong>
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Nature Genet. 40: 1341-1347, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18836445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18836445</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18836445[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=18836445" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.242" target="_blank">Full Text</a>]
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Scapoli, L., Palmieri, A., Martinelli, M., Pezzetti, F., Carinci, P., Tognon, M., Carinci, F.
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<strong>Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population.</strong>
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Am. J. Hum. Genet. 76: 180-183, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15558496/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15558496</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15558496" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/427344" target="_blank">Full Text</a>]
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Vieira, A. R., Cooper, M. E., Marazita, M. L., Orioli, I. M., Castilla, E. E.
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<strong>Interferon regulatory factor 6 (IRF6) is associated with oral-facial cleft in individuals that originate in South America.</strong>
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Am. J. Med. Genet. 143A: 2075-2078, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17702008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17702008</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17702008" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.31884" target="_blank">Full Text</a>]
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Zucchero, T. M., Cooper, M. E., Maher, B. S., Daack-Hirsch, S., Nepomuceno, B., Ribeiro, L., Caprau, D., Christensen, K., Suzuki, Y., Machida, J., Natsume, N., Yoshiura, K.-I., and 17 others.
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<strong>Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate.</strong>
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New Eng. J. Med. 351: 769-780, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15317890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15317890</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15317890" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJMoa032909" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 6/16/2009<br>Marla J. F. O'Neill - updated : 11/24/2008<br>Kelly A. Przylepa - updated : 11/6/2007<br>Marla J. F. O'Neill - updated : 10/12/2005
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carol : 12/04/2017<br>carol : 02/04/2016<br>carol : 3/8/2013<br>alopez : 12/17/2010<br>terry : 12/16/2010<br>carol : 6/16/2009<br>alopez : 11/24/2008<br>carol : 11/6/2007<br>wwang : 10/12/2005<br>ckniffin : 10/12/2005<br>carol : 8/25/2004<br>carol : 8/25/2004<br>ckniffin : 8/23/2004
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<span class="mim-font">
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<strong>#</strong> 608864
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OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6
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</h3>
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<em>Alternative titles; symbols</em>
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CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 6
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<strong>ORPHA:</strong> 199306;
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<strong>DO:</strong> 0080593;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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1q32.2
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<span class="mim-font">
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{Orofacial cleft 6}
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<span class="mim-font">
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608864
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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IRF6
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<span class="mim-font">
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607199
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that susceptibility to orofacial cleft-6 (OFC6) is conferred by variation in an enhancer of the IRF6 gene (607199) on chromosome 1q32.</p>
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<span class="mim-font">
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<strong>Description</strong>
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<p>Orofacial cleft-6 (OFD6) is characterized by isolated cleft lip or cleft palate or by cleft lip and cleft palate (Rahimov et al., 2008; Pan et al., 2010). </p><p>For a phenotypic description and a discussion of genetic heterogeneity of nonsyndromic CL/P, see 119530.</p>
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<span class="mim-font">
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<strong>Mapping</strong>
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<p>In van der Woude syndrome (VWS; 119300), lower lip pits are associated with CL/P or cleft palate only. Since none of these traits is present in all persons who carry the VWS mutation, some individual or familial VWS cases, especially those lacking lip pits, are indiscernible from nonsyndromic CL/P, raising the question of whether allelic variation at the VWS locus could underlie nonsyndromic CL/P. By linkage studies, Hecht et al. (1992) excluded the region of chromosome 1q which carries the van der Woude syndrome as the site of the mutation in this disorder and in isolated cleft palate. Houdayer et al. (2001) could find no evidence for linkage of nonsyndromic CL/P to the VWS locus on 1q32. However, in a parametric analysis using the transmission/disequilibrium test in 106 nonsyndromic CL/P triads (both parents and a child), they found a significant p value of 0.04 for D1S205, supporting involvement of the VWS locus in nonsyndromic CL/P in a complex, modifying/polygenic manner rather than as a monogenic major disease locus. </p><p>In a group of 6,755 members from 1,968 families in which at least 1 person had isolated CL/P, Zucchero et al. (2004) found significant association with the V allele at a V274I polymorphism (rs2235371) in the IRF6 gene. Variation at IRF6 was responsible for 12% of the genetic contribution to cleft lip or palate and tripled the risk of recurrence in families that already had 1 affected child. Zucchero et al. (2004) noted that their findings suggested that the V allele itself was not causal. </p><p>Scapoli et al. (2005) investigated 4 markers spanning the IRF6 locus, using the transmission disequilibrium test in a sample of 219 Italian triads of patients and their parents. Strong evidence of linkage disequilibrium was found between markers and disease in both single-allele (rs2235375; P = 0.002) and haplotype (P = 0.0005) analyses in that disease. These findings confirmed the contribution of IRF6 in the etiology of nonsyndromic cleft lip and palate and strongly supported its involvement in populations of European ancestry. </p><p>In 51 multiplex families and 184 simplex parent-child trios with nonsyndromic cleft lip and palate and 21 parent-child trios with a positive family history, Blanton et al. (2005) examined the same SNPs as Scapoli et al. (2005) and also detected an altered transmission of IRF6 alleles. Blanton et al. (2005) suggested that IRF6 plays a role in nonsyndromic cleft lip and palate. </p><p>Vieira et al. (2007) investigated 172 mother-affected child pairs from the Latin American Collaborative Study of Congenital Malformations (ECLMAC) study for an association of nonsyndromic cleft lip and palate and IRF6. The ECLMAC population was included in the original IRF6 association study published by Zucchero et al. (2004), but no association was detected. Vieira et al. (2007) separated patients with mitochondrial DNA haplotype D (more frequent in Native American subgroups) from other mitochondrial subtypes. An association of IRF6 (specifically the allelic variant V274I) and oral facial cleft was found in patients with mitochondrial haplotypes other than haplotype D. Vieira et al. (2007) suggested that the association of nonsyndromic oral facial cleft and IRF6 in South Americans relates to ancestral origin. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Rahimov et al. (2008) found that the A allele of a common SNP (rs642961, G-A) in an IRF6 enhancer within the 5-prime untranslated region of the IRF6 gene was significantly overtransmitted (p = 1 x 10(-11)) in families with nonsyndromic cleft lip/palate, particularly in those with cleft lip only. There was a dosage effect of the A allele, with a relative risk for cleft lip of 1.68 for the AG genotype and 2.40 for the AA genotype. </p><p>In a hospital-based case-control study of 134 Han Chinese patients with nonsyndromic orofacial clefting (NSOC) and 115 controls matched for age, sex, and residential area, Pan et al. (2010) genotyped 2 polymorphisms in the IRF6 gene, rs2235371 and rs642961. In single-locus analyses, they found that the rs642961 AG and AG/AA genotypes were associated with increased risk of NSOC, especially cleft lip with or without cleft palate (CL/P) and cleft lip with cleft palate (CLP), whereas significantly decreased risks were associated with rs2235371 CT and CT/TT genotypes. In combined analysis using the rs642961 A allele and the rs2235371 C allele as the risk alleles, Pan et al. (2010) found that genotypes containing 2 to 4 risk alleles conferred high risk for NSOC, CL/P, and CLP (odds ratios of 2.15, 2.06, and 2.66, respectively). Analysis of lip skin tissue adjacent to the cleft revealed that rs642961 genotypes were associated with differential levels of IRF6 mRNA and protein expression in an allele-dosage manner. Pan et al. (2010) concluded that IRF6 genetic variants contribute to the etiology of NSOC in the Han Chinese population. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<p class="mim-text-font">
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Blanton, S. H., Cortez, A., Stal, S., Mulliken, J. B., Finnell, R. H., Hecht, J. T.
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<strong>Variation in IRF6 contributes to nonsyndromic cleft lip and palate.</strong>
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Am. J. Med. Genet. 137A: 259-262, 2005.
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[PubMed: 16096995]
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[Full Text: https://doi.org/10.1002/ajmg.a.30887]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hecht, J. T., Wang, Y., Blanton, S. H., Daiger, S. P.
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<strong>Van der Woude syndrome and nonsyndromic cleft lip and palate. (Letter)</strong>
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Am. J. Hum. Genet. 51: 442-444, 1992.
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[PubMed: 1642245]
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<li>
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<p class="mim-text-font">
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Houdayer, C., Bonaiti-Pellie, C., Erguy, C., Soupre, V., Dondon, M.-G., Burglen, L., Cougoureux, E., Couderc, R., Vazquez, M.-P., Bahuau, M.
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<strong>Possible relationship between the van der Woude syndrome (vWS) locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P).</strong>
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Am. J. Med. Genet. 104: 86-92, 2001.
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[PubMed: 11746036]
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[Full Text: https://doi.org/10.1002/1096-8628(20011115)104:1<86::aid-ajmg10053>3.0.co;2-e]
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<p class="mim-text-font">
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Pan, Y., Ma, J., Zhang, W., Du, Y., Niu, Y., Wang, M., Zhang, Z., Wang, L.
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<strong>IRF6 polymorphisms are associated with nonsyndromic orofacial clefts in a Chinese Han population.</strong>
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Am. J. Med. Genet. 152A: 2505-2511, 2010.
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[PubMed: 20799332]
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[Full Text: https://doi.org/10.1002/ajmg.a.33624]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Rahimov, F., Marazita, M. L., Visel, A., Cooper, M. E., Hitchler, M. J., Rubini, M., Domann, F. E., Govil, M., Christensen, K., Bille, C., Melbye, M., Jugessur, A., and 11 others.
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<strong>Disruption of an AP-2-alpha binding site in an IRF6 enhancer is associated with cleft lip.</strong>
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Nature Genet. 40: 1341-1347, 2008.
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[PubMed: 18836445]
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[Full Text: https://doi.org/10.1038/ng.242]
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</li>
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<li>
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<p class="mim-text-font">
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Scapoli, L., Palmieri, A., Martinelli, M., Pezzetti, F., Carinci, P., Tognon, M., Carinci, F.
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<strong>Strong evidence of linkage disequilibrium between polymorphisms at the IRF6 locus and nonsyndromic cleft lip with or without cleft palate, in an Italian population.</strong>
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Am. J. Hum. Genet. 76: 180-183, 2005.
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[PubMed: 15558496]
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[Full Text: https://doi.org/10.1086/427344]
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<li>
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<p class="mim-text-font">
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Vieira, A. R., Cooper, M. E., Marazita, M. L., Orioli, I. M., Castilla, E. E.
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<strong>Interferon regulatory factor 6 (IRF6) is associated with oral-facial cleft in individuals that originate in South America.</strong>
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Am. J. Med. Genet. 143A: 2075-2078, 2007.
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[PubMed: 17702008]
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[Full Text: https://doi.org/10.1002/ajmg.a.31884]
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<li>
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<p class="mim-text-font">
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Zucchero, T. M., Cooper, M. E., Maher, B. S., Daack-Hirsch, S., Nepomuceno, B., Ribeiro, L., Caprau, D., Christensen, K., Suzuki, Y., Machida, J., Natsume, N., Yoshiura, K.-I., and 17 others.
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<strong>Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate.</strong>
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New Eng. J. Med. 351: 769-780, 2004.
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[PubMed: 15317890]
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[Full Text: https://doi.org/10.1056/NEJMoa032909]
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Contributors:
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</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 12/16/2010<br>Marla J. F. O'Neill - updated : 6/16/2009<br>Marla J. F. O'Neill - updated : 11/24/2008<br>Kelly A. Przylepa - updated : 11/6/2007<br>Marla J. F. O'Neill - updated : 10/12/2005
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</span>
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin : 8/23/2004
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Edit History:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/07/2020<br>carol : 12/04/2017<br>carol : 02/04/2016<br>carol : 3/8/2013<br>alopez : 12/17/2010<br>terry : 12/16/2010<br>carol : 6/16/2009<br>alopez : 11/24/2008<br>carol : 11/6/2007<br>wwang : 10/12/2005<br>ckniffin : 10/12/2005<br>carol : 8/25/2004<br>carol : 8/25/2004<br>ckniffin : 8/23/2004
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NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
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and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
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