2630 lines
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2630 lines
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Entry
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- #608572 - BURN-MCKEOWN SYNDROME; BMKS
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- OMIM
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<p>
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<span class="h4">#608572</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/608572"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=BURN-MCKEOWN SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=1451&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK373577/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/999" 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/condition/burn-mckeown-syndrome" 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.ncbi.nlm.nih.gov/gtr/all/tests/?term=608572[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1200" 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><a href="https://www.possumcore.com/nuxeo/nxdoc/default/996b96e6-f951-4553-a6e3-0c59e5a577fe/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0080695" 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/608572" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0080695" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 720640005<br />
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<strong>ORPHA:</strong> 1200<br />
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<strong>DO:</strong> 0080695<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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608572
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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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BURN-MCKEOWN SYNDROME; BMKS
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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OCULOOTOFACIAL DYSPLASIA; OOFD
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
|
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<span class="mim-font">
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<a href="/geneMap/18/273?start=-3&limit=10&highlight=273">
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18q23
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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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Burn-McKeown syndrome
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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/608572"> 608572 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</td>
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<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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TXNL4A
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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/611595"> 611595 </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 class="btn-group ">
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<a href="/clinicalSynopsis/608572" 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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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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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/608572" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/608572" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<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">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> HEAD & NECK </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Face </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Micrognathia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32958008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32958008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.04</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025990&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025990</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Micrognathia-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
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Hypomimic face <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248149005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248149005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0813217&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0813217</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000338" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000338</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000338" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000338</a>]</span><br /> -
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Short philtrum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861324&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861324</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000322</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=16ecf2e0f23dddf7b8b7cf447ceb827b" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Philtrum,Short-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=16ecf2e0f23dddf7b8b7cf447ceb827b" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
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Prominent chin <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/109504005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">109504005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22810007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22810007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.213" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.213</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.23" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.23</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0399526&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0399526</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000303" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000303</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000303" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000303</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Ears </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Prominent ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/275478007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">275478007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1305420&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1305420</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000411" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000411</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000411" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000411</a>]</span><br /> -
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Preauricular tag <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204245004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204245004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860816&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860816</a>, <a href="https://bioportal.bioontology.org/search?q=C0266609&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266609</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000384" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000384</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0030024" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030024</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000384" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000384</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=68d9414bb4f23e0fc28d2e9e91a95b15" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Tag,Preauricular-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=68d9414bb4f23e0fc28d2e9e91a95b15" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
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Conductive hearing loss <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 /> -
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Hypoplastic alae nasi <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834055&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834055</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000430" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000430</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000430" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000430</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Eyes </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Hypertelorism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22006008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020534</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
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Short palpebral fissures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246802000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246802000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423112&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423112</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012745" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012745</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012745" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012745</a>]</span><br /> -
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Lower eyelid coloboma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/763133008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">763133008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837826&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837826</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000652" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000652</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000652" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000652</a>]</span><br />
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</span>
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</div>
|
|
</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nose </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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|
- Prominent nasal bridge <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854113&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854113</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000426" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000426</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000426" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000426</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=25fd1a02ef10b4687f73378521b408f6" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Nasal_Bridge,Prominent-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=25fd1a02ef10b4687f73378521b408f6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Choanal atresia or choanal stenosis, bilateral <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4013194&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4013194</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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|
|
- Thin lips <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/301348000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">301348000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0578038&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0578038</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000233" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000233</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000233" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000233</a>]</span><br /> -
|
|
Cleft lip <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80281008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80281008</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">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0008924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008924</a>, <a href="https://bioportal.bioontology.org/search?q=C4321245&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4321245</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000204" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000204</a>, <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> <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 /> -
|
|
Small mouth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14582003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14582003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q18.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q18.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/744.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">744.84</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026034&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026034</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000160" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000160</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000160" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000160</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 /> -
|
|
Oronasal fistula <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/370485008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">370485008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1299894&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1299894</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="<img src="https://elementsofmorphology.nih.gov/images/terms/Uvula,Cleft-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=3c22579bdef4e88303964de87353ca6f" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Ventricular septal defect <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30288003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30288003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253549006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253549006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/768552007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">768552007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/745.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018818&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018818</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001629</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001629</a>]</span><br /> -
|
|
Atrial septal defect <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253366007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253366007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405752007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405752007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70142008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70142008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018817</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001631" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001631</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001631" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001631</a>]</span><br />
|
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|
</span>
|
|
</div>
|
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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- Feeding problems <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/274540003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">274540003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/78164000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">78164000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R63.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R63.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0232466&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0232466</a>, <a href="https://bioportal.bioontology.org/search?q=C0699815&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0699815</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011968" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011968</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011968" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011968</a>]</span><br />
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<strong> GENITOURINARY </strong>
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<div style="margin-left: 2em;">
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<em> Kidneys </em>
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- Hypoplastic/dysplastic kidney <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837823&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837823</a>]</span><br />
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<strong> SKELETAL </strong>
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<em> Feet </em>
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<span class="h5 mim-font">
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<strong> NEUROLOGIC </strong>
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<span class="h5 mim-font">
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<em> Central Nervous System </em>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Normal development <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1821244&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1821244</a>]</span><br />
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<span class="h5 mim-font">
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<strong> LABORATORY ABNORMALITIES </strong>
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<div style="margin-left: 2em;">
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- Abnormal karyotype in single reported female patient 46, XX,r(18)(p14q23) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837829&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837829</a>]</span><br />
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Caused by mutation in the thioredoxin-like 4A gene (TXNL4A, <a href="/entry/611595#0001">611595.0001</a>)<br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Burn-McKeown syndrome (BMKS) is caused by homozygous or compound heterozygous mutation in the TXNL4A gene (<a href="/entry/611595">611595</a>) on chromosome 18q23.</p>
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<strong>Description</strong>
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<p>Burn-McKeown syndrome (BMKS) is a rare disorder in which individuals with normal intellectual development exhibit the characteristic combination of choanal atresia, sensorineural deafness, cardiac defects, and typical craniofacial dysmorphism consisting of narrow palpebral fissures, coloboma of the lower eyelids, prominent nose with high nasal bridge, short philtrum, cleft lip and/or palate, and large and protruding ears (summary by <a href="#6" class="mim-tip-reference" title="Wieczorek, D., Newman, W. G., Wieland, T., Berulava, T., Kaffe, M., Falkenstein, D., Beetz, C., Graf, E., Schwarzmayr, T., Douzgou, S., Clayton-Smith, J., Daly, S. B., and 30 others. <strong>Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.</strong> Am. J. Hum. Genet. 95: 698-707, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25434003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25434003</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25434003[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2014.10.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25434003">Wieczorek et al., 2014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25434003" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
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<strong>Clinical Features</strong>
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<p><a href="#1" class="mim-tip-reference" title="Burn, J., McKeown, C., Wagget, J., Bray, R., Goodship, J. <strong>New dysmorphic syndrome with choanal atresia in siblings.</strong> Clin. Dysmorph. 1: 137-144, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1342861/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1342861</a>]" pmid="1342861">Burn et al. (1992)</a> reported 5 children who presented with bilateral choanal atresia and a spectrum of additional malformations including cardiac defects, deafness, defects of the external ear, eyes and eye lids, and a characteristic dysmorphic appearance. All of the children had normal intelligence. In 1 family, consecutive male sibs had choanal atresia, inguinal hernia, and sensorineural hearing loss. In another family, 1 boy had choanal atresia, a secundum atrial septal defect, widely spaced eyes, and short palpebral fissures, and his brother had bilateral choanal atresia, a unilateral cleft lip with an intact palate, a ventricular septal defect that closed spontaneously, and micrognathia. The brothers in both families had normal 46,XY karyotypes. In an isolated case, a girl had bilateral choanal atresia, cleft lip, a broad nasal bridge, widely spaced eyes with short palpebral fissures, and relative deficiency of the lateral portion of the lower eyelids. She had a short nose, malar hypoplasia and micrognathia, but normal development. Her chromosome analysis was 46,XX,r(18)(p14q23) with normal parental karyotypes. Common features in all were choanal atresia, prominent ears, hypertelorism with short palpebral fissures, and abnormalities of the outer third of the lower eyelid. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1342861" 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="Wieczorek, D., Teber, O. A., Lohmann, D., Gillessen-Kaesbach, G. <strong>Two brothers with Burn-McKeown syndrome.</strong> Clin. Dysmorph. 12: 171-174, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14564154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14564154</a>] [<a href="https://doi.org/10.1097/01.mcd.0000072163.33788.c4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14564154">Wieczorek et al. (2003)</a> reported 2 German brothers with features resembling those in the patients of <a href="#1" class="mim-tip-reference" title="Burn, J., McKeown, C., Wagget, J., Bray, R., Goodship, J. <strong>New dysmorphic syndrome with choanal atresia in siblings.</strong> Clin. Dysmorph. 1: 137-144, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1342861/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1342861</a>]" pmid="1342861">Burn et al. (1992)</a>. The brothers had normal intelligence, bilateral choanal atresia, and a characteristic pattern of facial dysmorphic features consisting of hypertelorism, lower lid coloboma, narrow palpebral fissures, prominent nasal bridge, small mouth with thin lips, and protruding ears. They also had additional features, including median cleft palate with oronasal fistula, preauricular tag, hypomimic face, and hypoplastic unilateral kidney. Although autosomal recessive inheritance had been suggested, <a href="#7" class="mim-tip-reference" title="Wieczorek, D., Teber, O. A., Lohmann, D., Gillessen-Kaesbach, G. <strong>Two brothers with Burn-McKeown syndrome.</strong> Clin. Dysmorph. 12: 171-174, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14564154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14564154</a>] [<a href="https://doi.org/10.1097/01.mcd.0000072163.33788.c4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14564154">Wieczorek et al. (2003)</a> raised the possibility of X-linked inheritance because all reported patients, except for a female with an X-chromosome abnormality, were male. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1342861+14564154" 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="Hing, A. V., LeBlond, C., Sze, R. W., Starr, J. R., Monks, S., Parisi, M. A. <strong>A novel oculo-oto-facial dysplasia in a native Alaskan community with autosomal recessive inheritance.</strong> Am. J. Med. Genet. 140A: 804-812, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16523509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16523509</a>] [<a href="https://doi.org/10.1002/ajmg.a.31160" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16523509">Hing et al. (2006)</a> described an autosomal recessive malformation syndrome in 4 related individuals from a geographically isolated Native Alaskan community who had facial defects similar to those of individuals with Treacher Collins syndrome (<a href="/entry/154500">154500</a>) or Miller syndrome (<a href="/entry/263750">263750</a>). Distinctive findings included malar and mandibular hypoplasia, lower eyelid coloboma, choanal atresia, orofacial clefting, and external ear malformation with preauricular tags. Intellect was normal. Profound mixed hearing loss was observed in affected adults. Variable extracranial findings included atrial septal defect, renal dysplasia, and imperforate anus, but no limb defects were observed. Three-dimensional CT imaging showed relative prominence of the zygoma, inferior orbital maxillary hypoplasia, and lateral orbital wall defects with an accessory superior bony projection off the zygoma lateral to the orbital rim. Although 2 of the patients had previously been diagnosed with Treacher Collins syndrome, <a href="#3" class="mim-tip-reference" title="Hing, A. V., LeBlond, C., Sze, R. W., Starr, J. R., Monks, S., Parisi, M. A. <strong>A novel oculo-oto-facial dysplasia in a native Alaskan community with autosomal recessive inheritance.</strong> Am. J. Med. Genet. 140A: 804-812, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16523509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16523509</a>] [<a href="https://doi.org/10.1002/ajmg.a.31160" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16523509">Hing et al. (2006)</a> noted that their features were more similar to those of Miller syndrome except for the absence of limb anomalies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16523509" 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="Wieczorek, D., Gillessen-Kaesbach, G. <strong>Oculo-oto-facial dysplasia (OOFD) versus Burn-McKeown syndrome. (Letter)</strong> Am. J. Med. Genet. 140A: 2381-2382, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17022072/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17022072</a>] [<a href="https://doi.org/10.1002/ajmg.a.31478" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17022072">Wieczorek and Gillessen-Kaesbach (2006)</a> reviewed the clinical features of the 4 patients described by <a href="#3" class="mim-tip-reference" title="Hing, A. V., LeBlond, C., Sze, R. W., Starr, J. R., Monks, S., Parisi, M. A. <strong>A novel oculo-oto-facial dysplasia in a native Alaskan community with autosomal recessive inheritance.</strong> Am. J. Med. Genet. 140A: 804-812, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16523509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16523509</a>] [<a href="https://doi.org/10.1002/ajmg.a.31160" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16523509">Hing et al. (2006)</a> and noted similarities to those of the 8 patients reported by <a href="#1" class="mim-tip-reference" title="Burn, J., McKeown, C., Wagget, J., Bray, R., Goodship, J. <strong>New dysmorphic syndrome with choanal atresia in siblings.</strong> Clin. Dysmorph. 1: 137-144, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1342861/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1342861</a>]" pmid="1342861">Burn et al. (1992)</a> and <a href="#7" class="mim-tip-reference" title="Wieczorek, D., Teber, O. A., Lohmann, D., Gillessen-Kaesbach, G. <strong>Two brothers with Burn-McKeown syndrome.</strong> Clin. Dysmorph. 12: 171-174, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14564154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14564154</a>] [<a href="https://doi.org/10.1097/01.mcd.0000072163.33788.c4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14564154">Wieczorek et al. (2003)</a>. <a href="#2" class="mim-tip-reference" title="Hing, A., Parisi, M. <strong>Response to Wieczorek and Gillessen-Kaesbach letter addressing 'A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance. (Letter)</strong> Am. J. Med. Genet. 140A: 2383-2384, 2006."None>Hing and Parisi (2006)</a> acknowledged the overlapping clinical features of Burn-McKeown syndrome and what they designated 'oculootofacial dysplasia' (OOFD), and suggested that documentation by CT scan of the characteristic lateral orbital rim observed in OOFD in a patient with Burn-McKeown syndrome would provide further evidence of a common genetic mechanism. <a href="#4" class="mim-tip-reference" title="Opitz, J. M., Burn, J. <strong>Re: Correspondence from Wieczorek and Gillessen-Kaesbach and Hing and Parisi.</strong> Am. J. Med. Genet. 140A: 2385 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17022074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17022074</a>] [<a href="https://doi.org/10.1002/ajmg.a.31476" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17022074">Opitz and Burn (2006)</a> commented that the overlap of the dysmorphic appearance and major malformations made it 'highly likely' that these 2 syndromes represent the same entity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17022072+16523509+17022074+14564154+1342861" 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="#8" class="mim-tip-reference" title="Wood, K. A., Ellingford, J. M., Thomas, H. B., Genomics UK Research Consortium, Douzgou, S., Beaman, G. M., Hobson, E., Prescott, K., O'Keefe, R. T., Newman, W. G. <strong>Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome.</strong> Clin. Genet. 101: 255-259, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34713892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34713892</a>] [<a href="https://doi.org/10.1111/cge.14082" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34713892">Wood et al. (2022)</a> described 2 patients with Burn-McKeown syndrome who were identified through genome sequencing. The first patient was an adult female with mixed conductive sensorineural hearing loss and jaw ankylosis. She had previously been treated for bilateral choanal atresia and had dysmorphic craniofacial features including lower eyelid coloboma, malar flattening, high palate, micrognathia, right microtia, and protruding ears. Her father had possible unilateral choanal atresia and a flat malar region; he was deceased, so further studies were not possible. The second patient was a boy with choanal atresia, conductive hearing loss, a cleft lip, and dysmorphic craniofacial features including downslanting palpebral fissures, malar flattening, and dysplastic ears. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34713892" 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 BMKS in the families reported by <a href="#6" class="mim-tip-reference" title="Wieczorek, D., Newman, W. G., Wieland, T., Berulava, T., Kaffe, M., Falkenstein, D., Beetz, C., Graf, E., Schwarzmayr, T., Douzgou, S., Clayton-Smith, J., Daly, S. B., and 30 others. <strong>Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.</strong> Am. J. Hum. Genet. 95: 698-707, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25434003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25434003</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25434003[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2014.10.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25434003">Wieczorek et al. (2014)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25434003" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected individuals from 9 of 11 families with Burn-McKeown syndrome, <a href="#6" class="mim-tip-reference" title="Wieczorek, D., Newman, W. G., Wieland, T., Berulava, T., Kaffe, M., Falkenstein, D., Beetz, C., Graf, E., Schwarzmayr, T., Douzgou, S., Clayton-Smith, J., Daly, S. B., and 30 others. <strong>Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.</strong> Am. J. Hum. Genet. 95: 698-707, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25434003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25434003</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25434003[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2014.10.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25434003">Wieczorek et al. (2014)</a> identified biallelic mutations in the TXNL4A gene. Affected members of 8 families, including 2 families originally reported by <a href="#1" class="mim-tip-reference" title="Burn, J., McKeown, C., Wagget, J., Bray, R., Goodship, J. <strong>New dysmorphic syndrome with choanal atresia in siblings.</strong> Clin. Dysmorph. 1: 137-144, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1342861/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1342861</a>]" pmid="1342861">Burn et al. (1992)</a> and the German family reported by <a href="#7" class="mim-tip-reference" title="Wieczorek, D., Teber, O. A., Lohmann, D., Gillessen-Kaesbach, G. <strong>Two brothers with Burn-McKeown syndrome.</strong> Clin. Dysmorph. 12: 171-174, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14564154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14564154</a>] [<a href="https://doi.org/10.1097/01.mcd.0000072163.33788.c4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14564154">Wieczorek et al. (2003)</a>, were compound heterozygous for a 34-bp deletion in the TXNL4A promoter (designated 'type 1;' <a href="/entry/611595#0001">611595.0001</a>) and another TXNL4A mutation (see, e.g., <a href="/entry/611595#0002">611595.0002</a>-<a href="/entry/611595#0005">611595.0005</a>). In the Native Alaskan pedigree originally reported by <a href="#3" class="mim-tip-reference" title="Hing, A. V., LeBlond, C., Sze, R. W., Starr, J. R., Monks, S., Parisi, M. A. <strong>A novel oculo-oto-facial dysplasia in a native Alaskan community with autosomal recessive inheritance.</strong> Am. J. Med. Genet. 140A: 804-812, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16523509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16523509</a>] [<a href="https://doi.org/10.1002/ajmg.a.31160" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16523509">Hing et al. (2006)</a>, affected individuals were homozygous for an overlapping but different 34-bp TXNL4A promoter deletion (designated 'type 2;' <a href="/entry/611595#0006">611595.0006</a>). <a href="#6" class="mim-tip-reference" title="Wieczorek, D., Newman, W. G., Wieland, T., Berulava, T., Kaffe, M., Falkenstein, D., Beetz, C., Graf, E., Schwarzmayr, T., Douzgou, S., Clayton-Smith, J., Daly, S. B., and 30 others. <strong>Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.</strong> Am. J. Hum. Genet. 95: 698-707, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25434003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25434003</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25434003[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2014.10.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25434003">Wieczorek et al. (2014)</a> noted that the 2 probands in whom no mutations were detected in TXNL4A were clinically indistinguishable from mutation-positive patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16523509+1342861+14564154+25434003" 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>Using whole-genome sequencing, <a href="#8" class="mim-tip-reference" title="Wood, K. A., Ellingford, J. M., Thomas, H. B., Genomics UK Research Consortium, Douzgou, S., Beaman, G. M., Hobson, E., Prescott, K., O'Keefe, R. T., Newman, W. G. <strong>Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome.</strong> Clin. Genet. 101: 255-259, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34713892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34713892</a>] [<a href="https://doi.org/10.1111/cge.14082" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="34713892">Wood et al. (2022)</a> identified compound heterozygous mutations in the TXNL4A gene in 2 patients with BMKS. Both patients carried the type 1 34-bp deletion in the promoter on one allele; on the other allele, one patient had a 2-bp deletion (c.93_94delCC; <a href="/entry/611595#0007">611595.0007</a>) and the other patient had a splice site mutation (c.258-3C-G; <a href="/entry/611595#0008">611595.0008</a>). A minigene splicing assay showed that the c.258-3C-G mutation and a previously described mutation in an adjacent nucleotide in a patient with BKMS (c.258-2A-G) caused skipping of the final exon of TXNL4A. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34713892" 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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Burn, J., McKeown, C., Wagget, J., Bray, R., Goodship, J.
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<strong>New dysmorphic syndrome with choanal atresia in siblings.</strong>
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Clin. Dysmorph. 1: 137-144, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1342861/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1342861</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1342861" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Response to Wieczorek and Gillessen-Kaesbach letter addressing 'A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance. (Letter)</strong>
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Am. J. Med. Genet. 140A: 2383-2384, 2006.
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Hing, A. V., LeBlond, C., Sze, R. W., Starr, J. R., Monks, S., Parisi, M. A.
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<strong>A novel oculo-oto-facial dysplasia in a native Alaskan community with autosomal recessive inheritance.</strong>
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Am. J. Med. Genet. 140A: 804-812, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16523509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16523509</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16523509" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Opitz, J. M., Burn, J.
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<strong>Re: Correspondence from Wieczorek and Gillessen-Kaesbach and Hing and Parisi.</strong>
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Am. J. Med. Genet. 140A: 2385 only, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17022074/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17022074</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17022074" 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.31476" target="_blank">Full Text</a>]
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<strong>Oculo-oto-facial dysplasia (OOFD) versus Burn-McKeown syndrome. (Letter)</strong>
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Am. J. Med. Genet. 140A: 2381-2382, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17022072/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17022072</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17022072" 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.31478" target="_blank">Full Text</a>]
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Wieczorek, D., Newman, W. G., Wieland, T., Berulava, T., Kaffe, M., Falkenstein, D., Beetz, C., Graf, E., Schwarzmayr, T., Douzgou, S., Clayton-Smith, J., Daly, S. B., and 30 others.
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<strong>Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.</strong>
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Am. J. Hum. Genet. 95: 698-707, 2014.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25434003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25434003</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25434003[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=25434003" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2014.10.014" target="_blank">Full Text</a>]
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Wieczorek, D., Teber, O. A., Lohmann, D., Gillessen-Kaesbach, G.
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<strong>Two brothers with Burn-McKeown syndrome.</strong>
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Clin. Dysmorph. 12: 171-174, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14564154/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14564154</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14564154" 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/10.1097/01.mcd.0000072163.33788.c4" target="_blank">Full Text</a>]
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Wood, K. A., Ellingford, J. M., Thomas, H. B., Genomics UK Research Consortium, Douzgou, S., Beaman, G. M., Hobson, E., Prescott, K., O'Keefe, R. T., Newman, W. G.
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<strong>Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome.</strong>
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Clin. Genet. 101: 255-259, 2022.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34713892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34713892</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34713892" 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/10.1111/cge.14082" target="_blank">Full Text</a>]
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<span class="mim-text-font">
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Sonja A. Rasmussen - updated : 08/03/2022
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Marla J. F. O'Neill - updated : 1/5/2015<br>Marla J. F. O'Neill updated : 12/19/2006
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Siobhan M. Dolan : 4/5/2004
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carol : 12/12/2023
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carol : 08/04/2022<br>alopez : 08/03/2022<br>carol : 01/07/2015<br>mcolton : 1/5/2015<br>wwang : 12/19/2006<br>carol : 4/5/2004
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<strong>#</strong> 608572
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BURN-MCKEOWN SYNDROME; BMKS
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OCULOOTOFACIAL DYSPLASIA; OOFD
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<strong>SNOMEDCT:</strong> 720640005;
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<strong>ORPHA:</strong> 1200;
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<strong>DO:</strong> 0080695;
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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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18q23
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Burn-McKeown syndrome
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608572
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Autosomal recessive
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3
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TXNL4A
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611595
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<p>A number sign (#) is used with this entry because of evidence that Burn-McKeown syndrome (BMKS) is caused by homozygous or compound heterozygous mutation in the TXNL4A gene (611595) on chromosome 18q23.</p>
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<strong>Description</strong>
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<p>Burn-McKeown syndrome (BMKS) is a rare disorder in which individuals with normal intellectual development exhibit the characteristic combination of choanal atresia, sensorineural deafness, cardiac defects, and typical craniofacial dysmorphism consisting of narrow palpebral fissures, coloboma of the lower eyelids, prominent nose with high nasal bridge, short philtrum, cleft lip and/or palate, and large and protruding ears (summary by Wieczorek et al., 2014). </p>
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<strong>Clinical Features</strong>
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<p>Burn et al. (1992) reported 5 children who presented with bilateral choanal atresia and a spectrum of additional malformations including cardiac defects, deafness, defects of the external ear, eyes and eye lids, and a characteristic dysmorphic appearance. All of the children had normal intelligence. In 1 family, consecutive male sibs had choanal atresia, inguinal hernia, and sensorineural hearing loss. In another family, 1 boy had choanal atresia, a secundum atrial septal defect, widely spaced eyes, and short palpebral fissures, and his brother had bilateral choanal atresia, a unilateral cleft lip with an intact palate, a ventricular septal defect that closed spontaneously, and micrognathia. The brothers in both families had normal 46,XY karyotypes. In an isolated case, a girl had bilateral choanal atresia, cleft lip, a broad nasal bridge, widely spaced eyes with short palpebral fissures, and relative deficiency of the lateral portion of the lower eyelids. She had a short nose, malar hypoplasia and micrognathia, but normal development. Her chromosome analysis was 46,XX,r(18)(p14q23) with normal parental karyotypes. Common features in all were choanal atresia, prominent ears, hypertelorism with short palpebral fissures, and abnormalities of the outer third of the lower eyelid. </p><p>Wieczorek et al. (2003) reported 2 German brothers with features resembling those in the patients of Burn et al. (1992). The brothers had normal intelligence, bilateral choanal atresia, and a characteristic pattern of facial dysmorphic features consisting of hypertelorism, lower lid coloboma, narrow palpebral fissures, prominent nasal bridge, small mouth with thin lips, and protruding ears. They also had additional features, including median cleft palate with oronasal fistula, preauricular tag, hypomimic face, and hypoplastic unilateral kidney. Although autosomal recessive inheritance had been suggested, Wieczorek et al. (2003) raised the possibility of X-linked inheritance because all reported patients, except for a female with an X-chromosome abnormality, were male. </p><p>Hing et al. (2006) described an autosomal recessive malformation syndrome in 4 related individuals from a geographically isolated Native Alaskan community who had facial defects similar to those of individuals with Treacher Collins syndrome (154500) or Miller syndrome (263750). Distinctive findings included malar and mandibular hypoplasia, lower eyelid coloboma, choanal atresia, orofacial clefting, and external ear malformation with preauricular tags. Intellect was normal. Profound mixed hearing loss was observed in affected adults. Variable extracranial findings included atrial septal defect, renal dysplasia, and imperforate anus, but no limb defects were observed. Three-dimensional CT imaging showed relative prominence of the zygoma, inferior orbital maxillary hypoplasia, and lateral orbital wall defects with an accessory superior bony projection off the zygoma lateral to the orbital rim. Although 2 of the patients had previously been diagnosed with Treacher Collins syndrome, Hing et al. (2006) noted that their features were more similar to those of Miller syndrome except for the absence of limb anomalies. </p><p>Wieczorek and Gillessen-Kaesbach (2006) reviewed the clinical features of the 4 patients described by Hing et al. (2006) and noted similarities to those of the 8 patients reported by Burn et al. (1992) and Wieczorek et al. (2003). Hing and Parisi (2006) acknowledged the overlapping clinical features of Burn-McKeown syndrome and what they designated 'oculootofacial dysplasia' (OOFD), and suggested that documentation by CT scan of the characteristic lateral orbital rim observed in OOFD in a patient with Burn-McKeown syndrome would provide further evidence of a common genetic mechanism. Opitz and Burn (2006) commented that the overlap of the dysmorphic appearance and major malformations made it 'highly likely' that these 2 syndromes represent the same entity. </p><p>Wood et al. (2022) described 2 patients with Burn-McKeown syndrome who were identified through genome sequencing. The first patient was an adult female with mixed conductive sensorineural hearing loss and jaw ankylosis. She had previously been treated for bilateral choanal atresia and had dysmorphic craniofacial features including lower eyelid coloboma, malar flattening, high palate, micrognathia, right microtia, and protruding ears. Her father had possible unilateral choanal atresia and a flat malar region; he was deceased, so further studies were not possible. The second patient was a boy with choanal atresia, conductive hearing loss, a cleft lip, and dysmorphic craniofacial features including downslanting palpebral fissures, malar flattening, and dysplastic ears. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of BMKS in the families reported by Wieczorek et al. (2014) was consistent with autosomal recessive inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In affected individuals from 9 of 11 families with Burn-McKeown syndrome, Wieczorek et al. (2014) identified biallelic mutations in the TXNL4A gene. Affected members of 8 families, including 2 families originally reported by Burn et al. (1992) and the German family reported by Wieczorek et al. (2003), were compound heterozygous for a 34-bp deletion in the TXNL4A promoter (designated 'type 1;' 611595.0001) and another TXNL4A mutation (see, e.g., 611595.0002-611595.0005). In the Native Alaskan pedigree originally reported by Hing et al. (2006), affected individuals were homozygous for an overlapping but different 34-bp TXNL4A promoter deletion (designated 'type 2;' 611595.0006). Wieczorek et al. (2014) noted that the 2 probands in whom no mutations were detected in TXNL4A were clinically indistinguishable from mutation-positive patients. </p><p>Using whole-genome sequencing, Wood et al. (2022) identified compound heterozygous mutations in the TXNL4A gene in 2 patients with BMKS. Both patients carried the type 1 34-bp deletion in the promoter on one allele; on the other allele, one patient had a 2-bp deletion (c.93_94delCC; 611595.0007) and the other patient had a splice site mutation (c.258-3C-G; 611595.0008). A minigene splicing assay showed that the c.258-3C-G mutation and a previously described mutation in an adjacent nucleotide in a patient with BKMS (c.258-2A-G) caused skipping of the final exon of TXNL4A. </p>
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<strong>REFERENCES</strong>
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<p class="mim-text-font">
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Burn, J., McKeown, C., Wagget, J., Bray, R., Goodship, J.
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<strong>New dysmorphic syndrome with choanal atresia in siblings.</strong>
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Clin. Dysmorph. 1: 137-144, 1992.
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[PubMed: 1342861]
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Hing, A., Parisi, M.
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<strong>Response to Wieczorek and Gillessen-Kaesbach letter addressing 'A novel oculo-oto-facial dysplasia in a Native Alaskan community with autosomal recessive inheritance. (Letter)</strong>
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Am. J. Med. Genet. 140A: 2383-2384, 2006.
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Hing, A. V., LeBlond, C., Sze, R. W., Starr, J. R., Monks, S., Parisi, M. A.
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<strong>A novel oculo-oto-facial dysplasia in a native Alaskan community with autosomal recessive inheritance.</strong>
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Am. J. Med. Genet. 140A: 804-812, 2006.
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[PubMed: 16523509]
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[Full Text: https://doi.org/10.1002/ajmg.a.31160]
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Opitz, J. M., Burn, J.
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<strong>Re: Correspondence from Wieczorek and Gillessen-Kaesbach and Hing and Parisi.</strong>
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Am. J. Med. Genet. 140A: 2385 only, 2006.
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[PubMed: 17022074]
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[Full Text: https://doi.org/10.1002/ajmg.a.31476]
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Wieczorek, D., Gillessen-Kaesbach, G.
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<strong>Oculo-oto-facial dysplasia (OOFD) versus Burn-McKeown syndrome. (Letter)</strong>
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Am. J. Med. Genet. 140A: 2381-2382, 2006.
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[PubMed: 17022072]
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[Full Text: https://doi.org/10.1002/ajmg.a.31478]
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Wieczorek, D., Newman, W. G., Wieland, T., Berulava, T., Kaffe, M., Falkenstein, D., Beetz, C., Graf, E., Schwarzmayr, T., Douzgou, S., Clayton-Smith, J., Daly, S. B., and 30 others.
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<strong>Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.</strong>
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Am. J. Hum. Genet. 95: 698-707, 2014.
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[PubMed: 25434003]
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[Full Text: https://doi.org/10.1016/j.ajhg.2014.10.014]
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<li>
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Wieczorek, D., Teber, O. A., Lohmann, D., Gillessen-Kaesbach, G.
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<strong>Two brothers with Burn-McKeown syndrome.</strong>
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Clin. Dysmorph. 12: 171-174, 2003.
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[PubMed: 14564154]
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[Full Text: https://doi.org/10.1097/01.mcd.0000072163.33788.c4]
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Wood, K. A., Ellingford, J. M., Thomas, H. B., Genomics UK Research Consortium, Douzgou, S., Beaman, G. M., Hobson, E., Prescott, K., O'Keefe, R. T., Newman, W. G.
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<strong>Expanding the genotypic spectrum of TXNL4A variants in Burn-McKeown syndrome.</strong>
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Clin. Genet. 101: 255-259, 2022.
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[PubMed: 34713892]
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[Full Text: https://doi.org/10.1111/cge.14082]
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Sonja A. Rasmussen - updated : 08/03/2022<br>Marla J. F. O'Neill - updated : 1/5/2015<br>Marla J. F. O'Neill updated : 12/19/2006
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