2479 lines
172 KiB
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2479 lines
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Entry
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- #248450 - MANITOBA OCULOTRICHOANAL SYNDROME; MOTA
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- OMIM
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<p>
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<span class="h4">#248450</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/248450"><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="#mapping">Mapping</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="#animalModel">Animal Model</a>
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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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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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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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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<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=MANITOBA OCULOTRICHOANAL 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=2478&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/NBK1728/" 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/4481" 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/manitoba-oculotrichoanal-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=248450[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=2717" 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/27cad839-d4e4-4367-8e2f-066a55c7eb7b/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>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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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> 703539006<br />
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<strong>ORPHA:</strong> 2717<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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248450
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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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MANITOBA OCULOTRICHOANAL SYNDROME; MOTA
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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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MARLES SYNDROME
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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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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/9/56?start=-3&limit=10&highlight=56">
|
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9p22.3
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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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Manitoba oculotrichoanal 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/248450"> 248450 </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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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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FREM1
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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/608944"> 608944 </a>
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
|
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<a href="/clinicalSynopsis/248450" 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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<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/248450" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/248450" 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 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>
|
|
</span>
|
|
</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> 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 /> -
|
|
Eyelid coloboma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95202004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95202004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q10.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q10.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0521573&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521573</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000625" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000625</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000625" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000625</a>]</span><br /> -
|
|
Oculopalpebral synechia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855426&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855426</a>]</span><br /> -
|
|
Microphthalmia, extreme <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855427&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855427</a>]</span><br /> -
|
|
Anophthalmia, clinical <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7183006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7183006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q11.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q11.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003119&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003119</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000528" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000528</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000528" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000528</a>]</span><br /> -
|
|
Nasolacrimal duct obstruction <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/314022009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">314022009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/231841004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">231841004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1281931&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1281931</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000579" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000579</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000579" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000579</a>]</span><br />
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</span>
|
|
</div>
|
|
</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nose </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Nasal tip groove <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848388&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848388</a>]</span><br />
|
|
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</span>
|
|
</div>
|
|
</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">
|
|
|
|
- Anal stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/69914001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">69914001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0262374&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0262374</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002025" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002025</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002025" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002025</a>]</span><br /> -
|
|
Anteriorly displaced anus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838705&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838705</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001545</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001545</a>]</span><br /> -
|
|
Omphalocele <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18735004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18735004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q79.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q79.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/756.72" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">756.72</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0795690&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0795690</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001539" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001539</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001539" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001539</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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<div>
|
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<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
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</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> Hair </em>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Aberrant anterolateral scalp hairline <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855430&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855430</a>]</span><br />
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|
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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>
|
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<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
|
<span class="mim-font">
|
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|
|
- Majority of cases in Manitoba Indians, northeastern Manitoba, Canada<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">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</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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|
|
- Caused by mutation in the FRAS1-related extracellular matrix protein 1 gene (FREM1, <a href="/entry/608944#0004">608944.0004</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 class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
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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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<br />
|
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</div>
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<div>
|
|
<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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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that Manitoba oculotrichoanal syndrome (MOTA) is caused by homozygous or compound heterozygous mutation in the FREM1 gene (<a href="/entry/608944">608944</a>) on chromosome 9p22.</p><p>Mutation in the FREM1 gene can also cause bifid nose with or without anorectal and renal anomalies (BNAR; <a href="/entry/608980">608980</a>).</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Manitoba oculotrichoanal syndrome (MOTA) is a rare condition defined by eyelid colobomas, cryptophthalmos, and anophthalmia/microphthalmia, an aberrant hairline, a bifid or broad nasal tip, and gastrointestinal anomalies such as omphalocele and anal stenosis. Autosomal recessive inheritance was assumed because of consanguinity in the Oji-Cree population of Manitoba in which the syndrome was first described (summary by <a href="#5" class="mim-tip-reference" title="Slavotinek, A. M., Baranzini, S. E., Schanze, D., Labelle-Dumais, C., Short, K. M., Chao, R., Yahyavi, M., Bijlsma, E. K., Chu, C., Musone, S., Wheatley, A., Kwok, P.-Y., and 11 others. <strong>Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.</strong> J. Med. Genet. 48: 375-382, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21507892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21507892</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21507892[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/10.1136/jmg.2011.089631" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21507892">Slavotinek et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21507892" 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 3 male and 3 female Manitoba Indian children, <a href="#3" class="mim-tip-reference" title="Marles, S. L., Greenberg, C. R., Persaud, T. V. N., Shuckett, E. P., Chudley, A. E. <strong>New familial syndrome of unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies in Manitoba Indians.</strong> Am. J. Med. Genet. 42: 793-799, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1554017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1554017</a>] [<a href="https://doi.org/10.1002/ajmg.1320420609" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1554017">Marles et al. (1992)</a> observed an apparently new autosomal recessive syndrome manifested by hypertelorism and a variable combination of unilateral eye malformations, aberrant anterolateral scalp hairline, and nasal and anal anomalies. The children belonged to 4 related families. The parents and 7 other sibs were clinically unaffected. The family histories were otherwise unremarkable. Pictured were several examples of a curious finding of an anomalous wedge of scalp hair extending in the left frontotemporal region to the eyebrow. The eye malformations included unilateral clinical anophthalmia, obstruction of the nasolacrimal ducts, and coloboma of the medial half of the upper eyelid. The anus was stenotic in one, anteriorly displaced in another, and both anteriorly displaced and stenotic in a third. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1554017" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Fryns, J. P. <strong>Micro-ablepharon of the upper eyelids and vaginal atresia.</strong> Genet. Counsel. 12: 101-102, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11332973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11332973</a>]" pmid="11332973">Fryns (2001)</a> described a 36-year-old woman who was born with bilateral microblepharon/ablepharon of the upper eyelids without apparent associated malformations. At 16 years of age, gynecologic examination for primary amenorrhea revealed vaginal atresia with the uterine cervix not in connection with the perineum. Laparoscopy demonstrated normal internal genital structures, and renal echography and cystography were normal. Examination in adulthood showed, in addition to microblepharon and subsequent corneal clouding, a high forehead with frontal hair upsweep, high nasal root with maxillary hypoplasia, small alae nasi with coloboma formation, short philtrum with thin upper lip, relative microstomia, and high palate. There were no clinical signs of ectodermal dysplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11332973" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Li, C., Marles, S. L., Greenberg, C. R., Chodirker, B. N., van de Kamp, J., Slavotinek, A., Chudley, A. E. <strong>Manitoba oculotrichoanal (MOTA) syndrome: report of eight new cases.</strong> Am. J. Med. Genet. 143A: 853-857, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17352387/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17352387</a>] [<a href="https://doi.org/10.1002/ajmg.a.31446" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17352387">Li et al. (2007)</a> reported 7 new patients with clinical findings consistent with MOTA syndrome from the Cree/Ojibway kindred previously described by <a href="#3" class="mim-tip-reference" title="Marles, S. L., Greenberg, C. R., Persaud, T. V. N., Shuckett, E. P., Chudley, A. E. <strong>New familial syndrome of unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies in Manitoba Indians.</strong> Am. J. Med. Genet. 42: 793-799, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1554017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1554017</a>] [<a href="https://doi.org/10.1002/ajmg.1320420609" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1554017">Marles et al. (1992)</a>. Two of the patients had bilateral rather than unilateral abnormal anterior hairline patterns, and omphalocele was present in 3 patients. The authors also reported the first case of probable MOTA syndrome outside the native population of Island Lake, Manitoba in a female Dutch infant, born of nonconsanguineous parents, who had colobomata of the upper eyelids, cloudy left cornea, some excess hair extending to the left upper eyelid, broad columella, and broad nasal tip with palpable groove. <a href="#2" class="mim-tip-reference" title="Li, C., Marles, S. L., Greenberg, C. R., Chodirker, B. N., van de Kamp, J., Slavotinek, A., Chudley, A. E. <strong>Manitoba oculotrichoanal (MOTA) syndrome: report of eight new cases.</strong> Am. J. Med. Genet. 143A: 853-857, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17352387/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17352387</a>] [<a href="https://doi.org/10.1002/ajmg.a.31446" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17352387">Li et al. (2007)</a> stated that the most consistent features were hypertelorism and a broad or notched tip of the nose. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1554017+17352387" 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="Yeung, A., Amor, D., Savarirayan, R. <strong>Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: two new reports of MOTA syndrome.</strong> Am. J. Med. Genet. 149A: 767-769, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19291776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19291776</a>] [<a href="https://doi.org/10.1002/ajmg.a.32743" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19291776">Yeung et al. (2009)</a> described second-cousin male and female infants affected by a craniofacial abnormality similar to that seen in so-called 'Tessier number 10' clefts (<a href="#6" class="mim-tip-reference" title="Tessier, P. <strong>Anatomical classification of facial, cranio-facial and latero-facial clefts.</strong> J. Maxillofac. Surg. 4: 69-92, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/820824/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">820824</a>] [<a href="https://doi.org/10.1016/s0301-0503(76)80013-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="820824">Tessier, 1976</a>) and in MOTA syndrome. The male infant, born of nonconsanguineous unaffected parents of Greek and Malaysian ancestry, was noted at birth to have bilateral symmetric upper eyelid colobomas, with absence of the medial two-thirds of the lid. There was disruption of the middle segment of the eyebrows and an unusual hairline, with a projection of hair in the temporal regions pointing toward the colobomas. There was hypertelorism and a broad nasal tip. Vision was assessed as normal. There were no anorectal anomalies, and the remainder of the examination was normal. The female infant, born to nonconsanguineous Greek parents, was noted at birth to have an extensive coloboma of the left upper eyelid, with absence of the medial two-thirds of the eyelid. An associated ipsilateral tongue of hair pointed to the coloboma, and there was also disruption of the middle part of the eyebrow. The right eye and surrounding soft tissues were normal, as was the remainder of the clinical examination. <a href="#7" class="mim-tip-reference" title="Yeung, A., Amor, D., Savarirayan, R. <strong>Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: two new reports of MOTA syndrome.</strong> Am. J. Med. Genet. 149A: 767-769, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19291776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19291776</a>] [<a href="https://doi.org/10.1002/ajmg.a.32743" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19291776">Yeung et al. (2009)</a> noted that Tessier number 10 clefts previously had been only reported as sporadic cases and that the underlying etiology was believed to be environmental, but the familial clustering of these facial features and the variable association with other congenital anomalies supported a genetic rather than environmental cause. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=820824+19291776" 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="Slavotinek, A. M., Baranzini, S. E., Schanze, D., Labelle-Dumais, C., Short, K. M., Chao, R., Yahyavi, M., Bijlsma, E. K., Chu, C., Musone, S., Wheatley, A., Kwok, P.-Y., and 11 others. <strong>Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.</strong> J. Med. Genet. 48: 375-382, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21507892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21507892</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21507892[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/10.1136/jmg.2011.089631" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21507892">Slavotinek et al. (2011)</a> reported another Oji-Cree family in which the eldest affected sister had a bifid nasal tip and a V-shaped wedge of hair on her left forehead. She had 2 younger sisters who were also affected, 1 with anophthalmia of the left eye and a similar V-shaped wedge of hair, and 1 with bifid nasal tip and prominent central vein. Another sister was unaffected. A male second cousin had bilateral cryptophthalmos with abnormal ocular globes, frontal extension of his hairline bilaterally, broad nasal bridge with mildly widened nasal tip, omphalocele, and anal stenosis. Ultrasound in the newborn period showed mild renal pelviectasis. At 4.75 years of age, he had mild to moderate delays but could walk and speak in sentences. There was no history of consanguinity, and this family was not known to be related to the Cree/Ojibway kindred previously reported by <a href="#2" class="mim-tip-reference" title="Li, C., Marles, S. L., Greenberg, C. R., Chodirker, B. N., van de Kamp, J., Slavotinek, A., Chudley, A. E. <strong>Manitoba oculotrichoanal (MOTA) syndrome: report of eight new cases.</strong> Am. J. Med. Genet. 143A: 853-857, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17352387/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17352387</a>] [<a href="https://doi.org/10.1002/ajmg.a.31446" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17352387">Li et al. (2007)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21507892+17352387" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Clinical Variability</em></strong></p><p>
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<a href="#5" class="mim-tip-reference" title="Slavotinek, A. M., Baranzini, S. E., Schanze, D., Labelle-Dumais, C., Short, K. M., Chao, R., Yahyavi, M., Bijlsma, E. K., Chu, C., Musone, S., Wheatley, A., Kwok, P.-Y., and 11 others. <strong>Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.</strong> J. Med. Genet. 48: 375-382, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21507892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21507892</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21507892[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/10.1136/jmg.2011.089631" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21507892">Slavotinek et al. (2011)</a> noted that eye defects occurred consistently in patients with MOTA syndrome but had not been reported in BNAR patients, and that conversely, renal agenesis appeared to be characteristic of BNAR but had not been observed in MOTA syndrome. However, although these findings enabled distinction between BNAR and MOTA in some patients, <a href="#5" class="mim-tip-reference" title="Slavotinek, A. M., Baranzini, S. E., Schanze, D., Labelle-Dumais, C., Short, K. M., Chao, R., Yahyavi, M., Bijlsma, E. K., Chu, C., Musone, S., Wheatley, A., Kwok, P.-Y., and 11 others. <strong>Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.</strong> J. Med. Genet. 48: 375-382, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21507892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21507892</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21507892[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/10.1136/jmg.2011.089631" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21507892">Slavotinek et al. (2011)</a> stated that other patients exhibited more clinical overlap and could be diagnosed with either syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21507892" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Slavotinek, A. M., Baranzini, S. E., Schanze, D., Labelle-Dumais, C., Short, K. M., Chao, R., Yahyavi, M., Bijlsma, E. K., Chu, C., Musone, S., Wheatley, A., Kwok, P.-Y., and 11 others. <strong>Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.</strong> J. Med. Genet. 48: 375-382, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21507892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21507892</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21507892[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/10.1136/jmg.2011.089631" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21507892">Slavotinek et al. (2011)</a> performed genomewide SNP array hybridization in 3 Oji-Cree sisters with MOTA syndrome and identified 71 SNPs that were inherited from heterozygous parents and thus represented likely loss of heterozygosity/autozygosity; 44 of the SNPs were also present in their affected male cousin, of which 4 mapped to the FREM1 gene (<a href="/entry/608944">608944</a>) on chromosome 9p22.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21507892" 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 MOTA syndrome in the families reported by <a href="#5" class="mim-tip-reference" title="Slavotinek, A. M., Baranzini, S. E., Schanze, D., Labelle-Dumais, C., Short, K. M., Chao, R., Yahyavi, M., Bijlsma, E. K., Chu, C., Musone, S., Wheatley, A., Kwok, P.-Y., and 11 others. <strong>Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.</strong> J. Med. Genet. 48: 375-382, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21507892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21507892</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21507892[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/10.1136/jmg.2011.089631" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21507892">Slavotinek et al. (2011)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21507892" 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 a male patient from an Oji-Cree family with MOTA syndrome mapping to the FREM1 gene and 2 patients from the Cree/Ojibway kindred previously described by <a href="#2" class="mim-tip-reference" title="Li, C., Marles, S. L., Greenberg, C. R., Chodirker, B. N., van de Kamp, J., Slavotinek, A., Chudley, A. E. <strong>Manitoba oculotrichoanal (MOTA) syndrome: report of eight new cases.</strong> Am. J. Med. Genet. 143A: 853-857, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17352387/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17352387</a>] [<a href="https://doi.org/10.1002/ajmg.a.31446" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17352387">Li et al. (2007)</a>, <a href="#5" class="mim-tip-reference" title="Slavotinek, A. M., Baranzini, S. E., Schanze, D., Labelle-Dumais, C., Short, K. M., Chao, R., Yahyavi, M., Bijlsma, E. K., Chu, C., Musone, S., Wheatley, A., Kwok, P.-Y., and 11 others. <strong>Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.</strong> J. Med. Genet. 48: 375-382, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21507892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21507892</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21507892[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/10.1136/jmg.2011.089631" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21507892">Slavotinek et al. (2011)</a> identified homozygosity for a 60.1-kb deletion including exons 8 to 23 of the FREM1 gene (<a href="/entry/608944#0004">608944.0004</a>). In 3 affected sisters, second cousins to the male Oji-Cree patient, <a href="#5" class="mim-tip-reference" title="Slavotinek, A. M., Baranzini, S. E., Schanze, D., Labelle-Dumais, C., Short, K. M., Chao, R., Yahyavi, M., Bijlsma, E. K., Chu, C., Musone, S., Wheatley, A., Kwok, P.-Y., and 11 others. <strong>Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.</strong> J. Med. Genet. 48: 375-382, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21507892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21507892</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21507892[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/10.1136/jmg.2011.089631" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21507892">Slavotinek et al. (2011)</a> identified compound heterozygosity for 16-exon deletion and a splice site mutation that led to skipping of exon 31. However, the same splicing pattern was seen in cDNA from a control fibroblast cell line, and the authors concluded that this sequence variant was not pathogenic and stated that the second mutation in the 3 sisters remained undetected. In a woman with bilateral eyelid coloboma and vaginal atresia, originally reported by <a href="#1" class="mim-tip-reference" title="Fryns, J. P. <strong>Micro-ablepharon of the upper eyelids and vaginal atresia.</strong> Genet. Counsel. 12: 101-102, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11332973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11332973</a>]" pmid="11332973">Fryns (2001)</a>, <a href="#5" class="mim-tip-reference" title="Slavotinek, A. M., Baranzini, S. E., Schanze, D., Labelle-Dumais, C., Short, K. M., Chao, R., Yahyavi, M., Bijlsma, E. K., Chu, C., Musone, S., Wheatley, A., Kwok, P.-Y., and 11 others. <strong>Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.</strong> J. Med. Genet. 48: 375-382, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21507892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21507892</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21507892[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/10.1136/jmg.2011.089631" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21507892">Slavotinek et al. (2011)</a> identified homozygosity for a 4-bp deletion in the FREM1 gene (<a href="/entry/608944#0005">608944.0005</a>), and in another MOTA patient, originally reported by <a href="#2" class="mim-tip-reference" title="Li, C., Marles, S. L., Greenberg, C. R., Chodirker, B. N., van de Kamp, J., Slavotinek, A., Chudley, A. E. <strong>Manitoba oculotrichoanal (MOTA) syndrome: report of eight new cases.</strong> Am. J. Med. Genet. 143A: 853-857, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17352387/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17352387</a>] [<a href="https://doi.org/10.1002/ajmg.a.31446" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17352387">Li et al. (2007)</a>, they identified compound heterozygosity for missense mutations in FREM1 (<a href="/entry/608944#0006">608944.0006</a> and <a href="/entry/608944#0007">608944.0007</a>). However, analysis of the FREM1 gene in the 2 cousins with MOTA reported by <a href="#7" class="mim-tip-reference" title="Yeung, A., Amor, D., Savarirayan, R. <strong>Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: two new reports of MOTA syndrome.</strong> Am. J. Med. Genet. 149A: 767-769, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19291776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19291776</a>] [<a href="https://doi.org/10.1002/ajmg.a.32743" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19291776">Yeung et al. (2009)</a> revealed no mutation, and segregation analysis indicated that the affected children did not share a FREM1 allele from a common ancestor, making a causative role of FREM1 very unlikely in that family. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21507892+19291776+17352387+11332973" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Exclusion Studies</em></strong></p><p>
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Noting phenotypic overlap between Fraser syndrome (<a href="/entry/219000">219000</a>) and MOTA, <a href="#4" class="mim-tip-reference" title="Slavotinek, A., Li, C., Sherr, E. H., Chudley, A. E. <strong>Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome.</strong> Am. J. Med. Genet. 140A: 1909-1914, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16894541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16894541</a>] [<a href="https://doi.org/10.1002/ajmg.a.31399" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16894541">Slavotinek et al. (2006)</a> analyzed the FRAS1 gene (<a href="/entry/607830">607830</a>) in 2 patients with MOTA (patients 3 and 4 of <a href="#2" class="mim-tip-reference" title="Li, C., Marles, S. L., Greenberg, C. R., Chodirker, B. N., van de Kamp, J., Slavotinek, A., Chudley, A. E. <strong>Manitoba oculotrichoanal (MOTA) syndrome: report of eight new cases.</strong> Am. J. Med. Genet. 143A: 853-857, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17352387/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17352387</a>] [<a href="https://doi.org/10.1002/ajmg.a.31446" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17352387">Li et al. (2007)</a>) but did not identify any mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17352387+16894541" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Slavotinek, A. M., Baranzini, S. E., Schanze, D., Labelle-Dumais, C., Short, K. M., Chao, R., Yahyavi, M., Bijlsma, E. K., Chu, C., Musone, S., Wheatley, A., Kwok, P.-Y., and 11 others. <strong>Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.</strong> J. Med. Genet. 48: 375-382, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21507892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21507892</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21507892[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/10.1136/jmg.2011.089631" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21507892">Slavotinek et al. (2011)</a> examined Frem1-mutant mice and identified a small but statistically significant proportion of homozygous mutant animals with anal prolapse, which was not observed in heterozygous or wildtype littermates. Examination of Frem1-mutant eyes at birth showed that although the majority of animals presented with frank cryptophthalmos, a subset exhibited defects strikingly similar to the eyelid coloboma seen in MOTA, seemingly affecting only 1 part of the eyelid. Histologic analysis demonstrated that these defects were associated with a number of ocular malformations including failure of eyelid formation, defects in the formation of the conjunctiva, and absence of corneal epithelium leading to fibrosis. <a href="#5" class="mim-tip-reference" title="Slavotinek, A. M., Baranzini, S. E., Schanze, D., Labelle-Dumais, C., Short, K. M., Chao, R., Yahyavi, M., Bijlsma, E. K., Chu, C., Musone, S., Wheatley, A., Kwok, P.-Y., and 11 others. <strong>Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.</strong> J. Med. Genet. 48: 375-382, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21507892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21507892</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21507892[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/10.1136/jmg.2011.089631" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21507892">Slavotinek et al. (2011)</a> proposed that defects in the development or adhesion of the corneal epithelium contribute to the opacity apparent in some MOTA patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21507892" 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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Fryns, J. P.
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<strong>Micro-ablepharon of the upper eyelids and vaginal atresia.</strong>
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Genet. Counsel. 12: 101-102, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11332973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11332973</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11332973" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Li, C., Marles, S. L., Greenberg, C. R., Chodirker, B. N., van de Kamp, J., Slavotinek, A., Chudley, A. E.
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<strong>Manitoba oculotrichoanal (MOTA) syndrome: report of eight new cases.</strong>
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Am. J. Med. Genet. 143A: 853-857, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17352387/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17352387</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17352387" 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.31446" target="_blank">Full Text</a>]
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Marles, S. L., Greenberg, C. R., Persaud, T. V. N., Shuckett, E. P., Chudley, A. E.
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<strong>New familial syndrome of unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies in Manitoba Indians.</strong>
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Am. J. Med. Genet. 42: 793-799, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1554017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1554017</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1554017" 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.1320420609" target="_blank">Full Text</a>]
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Slavotinek, A., Li, C., Sherr, E. H., Chudley, A. E.
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<strong>Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome.</strong>
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Am. J. Med. Genet. 140A: 1909-1914, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16894541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16894541</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16894541" 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.31399" target="_blank">Full Text</a>]
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Slavotinek, A. M., Baranzini, S. E., Schanze, D., Labelle-Dumais, C., Short, K. M., Chao, R., Yahyavi, M., Bijlsma, E. K., Chu, C., Musone, S., Wheatley, A., Kwok, P.-Y., and 11 others.
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<strong>Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.</strong>
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J. Med. Genet. 48: 375-382, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21507892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21507892</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21507892[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=21507892" 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/10.1136/jmg.2011.089631" target="_blank">Full Text</a>]
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<strong>Anatomical classification of facial, cranio-facial and latero-facial clefts.</strong>
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J. Maxillofac. Surg. 4: 69-92, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/820824/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">820824</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=820824" 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/s0301-0503(76)80013-6" target="_blank">Full Text</a>]
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Yeung, A., Amor, D., Savarirayan, R.
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<strong>Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: two new reports of MOTA syndrome.</strong>
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Am. J. Med. Genet. 149A: 767-769, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19291776/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19291776</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19291776" 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.32743" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 11/04/2022
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Marla J. F. O'Neill - updated : 7/12/2011<br>Marla J. F. O'Neill - updated : 6/6/2007<br>Victor A. McKusick - updated : 7/8/2003
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Victor A. McKusick : 5/26/1992
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carol : 01/11/2023
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carol : 01/10/2023<br>carol : 11/04/2022<br>carol : 10/04/2011<br>carol : 9/15/2011<br>wwang : 7/15/2011<br>terry : 7/13/2011<br>terry : 7/12/2011<br>wwang : 6/11/2007<br>terry : 6/6/2007<br>carol : 7/8/2003<br>mimadm : 3/11/1994<br>carol : 5/26/1992
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<strong>#</strong> 248450
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MANITOBA OCULOTRICHOANAL SYNDROME; MOTA
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MARLES SYNDROME
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<strong>SNOMEDCT:</strong> 703539006;
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<strong>ORPHA:</strong> 2717;
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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9p22.3
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Manitoba oculotrichoanal syndrome
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248450
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Autosomal recessive
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3
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FREM1
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608944
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<p>A number sign (#) is used with this entry because of evidence that Manitoba oculotrichoanal syndrome (MOTA) is caused by homozygous or compound heterozygous mutation in the FREM1 gene (608944) on chromosome 9p22.</p><p>Mutation in the FREM1 gene can also cause bifid nose with or without anorectal and renal anomalies (BNAR; 608980).</p>
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<p>Manitoba oculotrichoanal syndrome (MOTA) is a rare condition defined by eyelid colobomas, cryptophthalmos, and anophthalmia/microphthalmia, an aberrant hairline, a bifid or broad nasal tip, and gastrointestinal anomalies such as omphalocele and anal stenosis. Autosomal recessive inheritance was assumed because of consanguinity in the Oji-Cree population of Manitoba in which the syndrome was first described (summary by Slavotinek et al., 2011). </p>
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<p>In 3 male and 3 female Manitoba Indian children, Marles et al. (1992) observed an apparently new autosomal recessive syndrome manifested by hypertelorism and a variable combination of unilateral eye malformations, aberrant anterolateral scalp hairline, and nasal and anal anomalies. The children belonged to 4 related families. The parents and 7 other sibs were clinically unaffected. The family histories were otherwise unremarkable. Pictured were several examples of a curious finding of an anomalous wedge of scalp hair extending in the left frontotemporal region to the eyebrow. The eye malformations included unilateral clinical anophthalmia, obstruction of the nasolacrimal ducts, and coloboma of the medial half of the upper eyelid. The anus was stenotic in one, anteriorly displaced in another, and both anteriorly displaced and stenotic in a third. </p><p>Fryns (2001) described a 36-year-old woman who was born with bilateral microblepharon/ablepharon of the upper eyelids without apparent associated malformations. At 16 years of age, gynecologic examination for primary amenorrhea revealed vaginal atresia with the uterine cervix not in connection with the perineum. Laparoscopy demonstrated normal internal genital structures, and renal echography and cystography were normal. Examination in adulthood showed, in addition to microblepharon and subsequent corneal clouding, a high forehead with frontal hair upsweep, high nasal root with maxillary hypoplasia, small alae nasi with coloboma formation, short philtrum with thin upper lip, relative microstomia, and high palate. There were no clinical signs of ectodermal dysplasia. </p><p>Li et al. (2007) reported 7 new patients with clinical findings consistent with MOTA syndrome from the Cree/Ojibway kindred previously described by Marles et al. (1992). Two of the patients had bilateral rather than unilateral abnormal anterior hairline patterns, and omphalocele was present in 3 patients. The authors also reported the first case of probable MOTA syndrome outside the native population of Island Lake, Manitoba in a female Dutch infant, born of nonconsanguineous parents, who had colobomata of the upper eyelids, cloudy left cornea, some excess hair extending to the left upper eyelid, broad columella, and broad nasal tip with palpable groove. Li et al. (2007) stated that the most consistent features were hypertelorism and a broad or notched tip of the nose. </p><p>Yeung et al. (2009) described second-cousin male and female infants affected by a craniofacial abnormality similar to that seen in so-called 'Tessier number 10' clefts (Tessier, 1976) and in MOTA syndrome. The male infant, born of nonconsanguineous unaffected parents of Greek and Malaysian ancestry, was noted at birth to have bilateral symmetric upper eyelid colobomas, with absence of the medial two-thirds of the lid. There was disruption of the middle segment of the eyebrows and an unusual hairline, with a projection of hair in the temporal regions pointing toward the colobomas. There was hypertelorism and a broad nasal tip. Vision was assessed as normal. There were no anorectal anomalies, and the remainder of the examination was normal. The female infant, born to nonconsanguineous Greek parents, was noted at birth to have an extensive coloboma of the left upper eyelid, with absence of the medial two-thirds of the eyelid. An associated ipsilateral tongue of hair pointed to the coloboma, and there was also disruption of the middle part of the eyebrow. The right eye and surrounding soft tissues were normal, as was the remainder of the clinical examination. Yeung et al. (2009) noted that Tessier number 10 clefts previously had been only reported as sporadic cases and that the underlying etiology was believed to be environmental, but the familial clustering of these facial features and the variable association with other congenital anomalies supported a genetic rather than environmental cause. </p><p>Slavotinek et al. (2011) reported another Oji-Cree family in which the eldest affected sister had a bifid nasal tip and a V-shaped wedge of hair on her left forehead. She had 2 younger sisters who were also affected, 1 with anophthalmia of the left eye and a similar V-shaped wedge of hair, and 1 with bifid nasal tip and prominent central vein. Another sister was unaffected. A male second cousin had bilateral cryptophthalmos with abnormal ocular globes, frontal extension of his hairline bilaterally, broad nasal bridge with mildly widened nasal tip, omphalocele, and anal stenosis. Ultrasound in the newborn period showed mild renal pelviectasis. At 4.75 years of age, he had mild to moderate delays but could walk and speak in sentences. There was no history of consanguinity, and this family was not known to be related to the Cree/Ojibway kindred previously reported by Li et al. (2007). </p><p><strong><em>Clinical Variability</em></strong></p><p>
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Slavotinek et al. (2011) noted that eye defects occurred consistently in patients with MOTA syndrome but had not been reported in BNAR patients, and that conversely, renal agenesis appeared to be characteristic of BNAR but had not been observed in MOTA syndrome. However, although these findings enabled distinction between BNAR and MOTA in some patients, Slavotinek et al. (2011) stated that other patients exhibited more clinical overlap and could be diagnosed with either syndrome. </p>
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<strong>Mapping</strong>
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<p>Slavotinek et al. (2011) performed genomewide SNP array hybridization in 3 Oji-Cree sisters with MOTA syndrome and identified 71 SNPs that were inherited from heterozygous parents and thus represented likely loss of heterozygosity/autozygosity; 44 of the SNPs were also present in their affected male cousin, of which 4 mapped to the FREM1 gene (608944) on chromosome 9p22.3. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of MOTA syndrome in the families reported by Slavotinek et al. (2011) was consistent with autosomal recessive inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In a male patient from an Oji-Cree family with MOTA syndrome mapping to the FREM1 gene and 2 patients from the Cree/Ojibway kindred previously described by Li et al. (2007), Slavotinek et al. (2011) identified homozygosity for a 60.1-kb deletion including exons 8 to 23 of the FREM1 gene (608944.0004). In 3 affected sisters, second cousins to the male Oji-Cree patient, Slavotinek et al. (2011) identified compound heterozygosity for 16-exon deletion and a splice site mutation that led to skipping of exon 31. However, the same splicing pattern was seen in cDNA from a control fibroblast cell line, and the authors concluded that this sequence variant was not pathogenic and stated that the second mutation in the 3 sisters remained undetected. In a woman with bilateral eyelid coloboma and vaginal atresia, originally reported by Fryns (2001), Slavotinek et al. (2011) identified homozygosity for a 4-bp deletion in the FREM1 gene (608944.0005), and in another MOTA patient, originally reported by Li et al. (2007), they identified compound heterozygosity for missense mutations in FREM1 (608944.0006 and 608944.0007). However, analysis of the FREM1 gene in the 2 cousins with MOTA reported by Yeung et al. (2009) revealed no mutation, and segregation analysis indicated that the affected children did not share a FREM1 allele from a common ancestor, making a causative role of FREM1 very unlikely in that family. </p><p><strong><em>Exclusion Studies</em></strong></p><p>
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Noting phenotypic overlap between Fraser syndrome (219000) and MOTA, Slavotinek et al. (2006) analyzed the FRAS1 gene (607830) in 2 patients with MOTA (patients 3 and 4 of Li et al. (2007)) but did not identify any mutations. </p>
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<p>Slavotinek et al. (2011) examined Frem1-mutant mice and identified a small but statistically significant proportion of homozygous mutant animals with anal prolapse, which was not observed in heterozygous or wildtype littermates. Examination of Frem1-mutant eyes at birth showed that although the majority of animals presented with frank cryptophthalmos, a subset exhibited defects strikingly similar to the eyelid coloboma seen in MOTA, seemingly affecting only 1 part of the eyelid. Histologic analysis demonstrated that these defects were associated with a number of ocular malformations including failure of eyelid formation, defects in the formation of the conjunctiva, and absence of corneal epithelium leading to fibrosis. Slavotinek et al. (2011) proposed that defects in the development or adhesion of the corneal epithelium contribute to the opacity apparent in some MOTA patients. </p>
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<strong>REFERENCES</strong>
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Fryns, J. P.
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<strong>Micro-ablepharon of the upper eyelids and vaginal atresia.</strong>
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Genet. Counsel. 12: 101-102, 2001.
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[PubMed: 11332973]
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Li, C., Marles, S. L., Greenberg, C. R., Chodirker, B. N., van de Kamp, J., Slavotinek, A., Chudley, A. E.
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<strong>Manitoba oculotrichoanal (MOTA) syndrome: report of eight new cases.</strong>
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Am. J. Med. Genet. 143A: 853-857, 2007.
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[PubMed: 17352387]
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[Full Text: https://doi.org/10.1002/ajmg.a.31446]
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Marles, S. L., Greenberg, C. R., Persaud, T. V. N., Shuckett, E. P., Chudley, A. E.
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<strong>New familial syndrome of unilateral upper eyelid coloboma, aberrant anterior hairline pattern, and anal anomalies in Manitoba Indians.</strong>
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Am. J. Med. Genet. 42: 793-799, 1992.
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[PubMed: 1554017]
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[Full Text: https://doi.org/10.1002/ajmg.1320420609]
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Slavotinek, A., Li, C., Sherr, E. H., Chudley, A. E.
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<strong>Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome.</strong>
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Am. J. Med. Genet. 140A: 1909-1914, 2006.
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[PubMed: 16894541]
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[Full Text: https://doi.org/10.1002/ajmg.a.31399]
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Slavotinek, A. M., Baranzini, S. E., Schanze, D., Labelle-Dumais, C., Short, K. M., Chao, R., Yahyavi, M., Bijlsma, E. K., Chu, C., Musone, S., Wheatley, A., Kwok, P.-Y., and 11 others.
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<strong>Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1.</strong>
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J. Med. Genet. 48: 375-382, 2011.
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[PubMed: 21507892]
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[Full Text: https://doi.org/10.1136/jmg.2011.089631]
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Tessier, P.
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<strong>Anatomical classification of facial, cranio-facial and latero-facial clefts.</strong>
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J. Maxillofac. Surg. 4: 69-92, 1976.
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[PubMed: 820824]
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[Full Text: https://doi.org/10.1016/s0301-0503(76)80013-6]
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Yeung, A., Amor, D., Savarirayan, R.
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<strong>Familial upper eyelid coloboma with ipsilateral anterior hairline abnormality: two new reports of MOTA syndrome.</strong>
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Am. J. Med. Genet. 149A: 767-769, 2009.
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[PubMed: 19291776]
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[Full Text: https://doi.org/10.1002/ajmg.a.32743]
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Marla J. F. O'Neill - updated : 11/04/2022<br>Marla J. F. O'Neill - updated : 7/12/2011<br>Marla J. F. O'Neill - updated : 6/6/2007<br>Victor A. McKusick - updated : 7/8/2003
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Victor A. McKusick : 5/26/1992
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carol : 01/11/2023<br>carol : 01/10/2023<br>carol : 11/04/2022<br>carol : 10/04/2011<br>carol : 9/15/2011<br>wwang : 7/15/2011<br>terry : 7/13/2011<br>terry : 7/12/2011<br>wwang : 6/11/2007<br>terry : 6/6/2007<br>carol : 7/8/2003<br>mimadm : 3/11/1994<br>carol : 5/26/1992
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