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Entry
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- #206900 - MICROPHTHALMIA, SYNDROMIC 3; MCOPS3
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- OMIM
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<span class="h4">#206900</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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<a href="/clinicalSynopsis/206900"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS309800"> <strong>Phenotypic Series</strong> </a>
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<a href="#description">Description</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#cytogenetics">Cytogenetics</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="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div 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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<span class="small">
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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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</span>
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</span>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div><a href="https://clinicaltrials.gov/search?cond=MICROPHTHALMIA, SYNDROMIC" 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=11110&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/NBK1300/" 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/4787" 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/sox2-anophthalmia-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=206900[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=77298" 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/312bdb6d-cb93-41b0-844f-07d1704c6230/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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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0111801" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/206900" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0111801" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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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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</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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<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> 698851003<br />
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<strong>ORPHA:</strong> 77298<br />
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<strong>DO:</strong> 0111801<br />
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">ICD+</a>
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</div>
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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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206900
|
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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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|
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MICROPHTHALMIA, SYNDROMIC 3; MCOPS3
|
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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>
|
|
<span class="mim-font">
|
|
MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME<br />
|
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ANOPHTHALMIA, CLINICAL, WITH ASSOCIATED ANOMALIES<br />
|
|
ANOPHTHALMIA-ESOPHAGEAL-GENITAL SYNDROME<br />
|
|
AEG 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="includedTitles" 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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Other entities represented in this entry:
|
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</span>
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</p>
|
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</div>
|
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<div>
|
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<span class="h3 mim-font">
|
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OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, INCLUDED
|
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</span>
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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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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
|
<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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<th>
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Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/3/890?start=-3&limit=10&highlight=890">
|
|
3q26.33
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Microphthalmia, syndromic 3
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/206900"> 206900 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
SOX2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/184429"> 184429 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/3/890?start=-3&limit=10&highlight=890">
|
|
3q26.33
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Optic nerve hypoplasia and abnormalities of the central nervous system
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/206900"> 206900 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
SOX2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/184429"> 184429 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/206900" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS309800" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/206900" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/206900" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Growth failure, postnatal <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859778&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859778</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008897" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008897</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001510</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Head </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Microcephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551563</a>, <a href="https://bioportal.bioontology.org/search?q=C0025958&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025958</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Microcephaly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" 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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Frontal bossing <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90145001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90145001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221354&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221354</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002007</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=3ab8802347404fb5ebf087fa6440bb25" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Frontal_Bossing-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=3ab8802347404fb5ebf087fa6440bb25" 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 />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hearing loss, sensorineural <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60700002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60700002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018784&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018784</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Microphthalmia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204108000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204108000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61142002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61142002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q11.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q11.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.11</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026010&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026010</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</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 /> -
|
|
Optic nerve hypoplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95499004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95499004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.039" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.039</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.03</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/377.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0338502&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0338502</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000609" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000609</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000609" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000609</a>]</span><br /> -
|
|
Coloboma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/93390002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">93390002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q13.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q13.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009363&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009363</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000589" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000589</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000589" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000589</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Teeth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Multiple supernumerary teeth (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2037417&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2037417</a>]</span><br />
|
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|
</span>
|
|
</div>
|
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</div>
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|
</div>
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</div>
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Ventricular septal defect <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30288003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30288003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253549006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253549006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/768552007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">768552007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/745.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018818&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018818</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001629</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001629</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Patent ductus arteriosus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/83330001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">83330001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q25.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q25.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/747.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">747.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013274&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013274</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001643" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001643</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001643" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001643</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CHEST </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ribs Sternum Clavicles & Scapulae </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Absent ribs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249695006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249695006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426816&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426816</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000921" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000921</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000921" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000921</a>]</span><br /> -
|
|
Extra ribs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205460009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205460009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q76.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q76.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0345397&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0345397</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005815" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005815</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005815" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005815</a>]</span><br /> -
|
|
Fused ribs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/66102006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">66102006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q76.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q76.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265695&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265695</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000902" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000902</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000902" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000902</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Esophageal atresia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26179002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26179002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q39.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q39.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0014850&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014850</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002032" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002032</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002032" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002032</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Genitalia (Male) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypospadias <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204888000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204888000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/416010008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">416010008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.61</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0848558&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0848558</a>, <a href="https://bioportal.bioontology.org/search?q=C1691215&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1691215</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003244" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003244</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000047" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000047</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000047" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000047</a>]</span><br /> -
|
|
Micropenis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/34911001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">34911001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q55.62" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q55.62</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.64" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.64</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266435&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266435</a>, <a href="https://bioportal.bioontology.org/search?q=C4551492&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551492</a>, <a href="https://bioportal.bioontology.org/search?q=C1387005&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1387005</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008736" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008736</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000054" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000054</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000054" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000054</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<em> Internal Genitalia (Male) </em>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
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|
- Cryptorchidism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204878001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204878001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q53.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q53.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010417&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010417</a>, <a href="https://bioportal.bioontology.org/search?q=C5441920&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441920</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</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> SKELETAL </strong>
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</span>
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Spine </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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|
- Hemivertebrae <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/68359008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">68359008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q76.49" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q76.49</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/756.14" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">756.14</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265677&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265677</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002937" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002937</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002937" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002937</a>]</span><br /> -
|
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Underdeveloped vertebrae <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205456006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205456006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0345394&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0345394</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008417" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008417</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008417" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008417</a>]</span><br /> -
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Fused vertebrae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849073&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849073</a>]</span><br /> -
|
|
Butterfly vertebrae <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/897560004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">897560004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5438458&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5438458</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003316</a>]</span><br />
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</span>
|
|
</div>
|
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </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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<div>
|
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<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Reduction of white matter, generalized <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859776&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859776</a>]</span><br /> -
|
|
Hypothalamic hamartoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237714006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237714006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0342418&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0342418</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002444" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002444</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002444" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002444</a>]</span><br /> -
|
|
Mesial temporal brain malformations <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859777&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859777</a>]</span><br /> -
|
|
Agenesis of corpus callosum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/5102002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">5102002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q04.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q04.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0175754&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0175754</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001274" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001274</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001274" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001274</a>]</span><br /> -
|
|
Hypoplasia of corpus callosum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204043002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204043002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0344482&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344482</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002079" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002079</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002079" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002079</a>]</span><br /> -
|
|
Anterior pituitary hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859775&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859775</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010627" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010627</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010627" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010627</a>]</span><br /> -
|
|
Learning difficulties <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/161129001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">161129001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424939&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424939</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001328" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001328</a>]</span><br /> -
|
|
Psychomotor delay <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/224958001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">224958001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1144814003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1144814003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F88</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0557874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0557874</a>, <a href="https://bioportal.bioontology.org/search?q=C5441816&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441816</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span><br /> -
|
|
Hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br /> -
|
|
Spastic diplegia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/281411007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">281411007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G80.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G80.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0023882&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023882</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001264" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001264</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001264" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001264</a>]</span><br /> -
|
|
Spastic quadriplegia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/192965001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">192965001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426970&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426970</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002510</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002510</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> ENDOCRINE FEATURES </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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|
|
- Anterior pituitary hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859775&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859775</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010627" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010627</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010627" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010627</a>]</span><br /> -
|
|
Hypogonadotropic hypogonadism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22053006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22053006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33927004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33927004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405769009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405769009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E23.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E23.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q98.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q98.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q98.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q98.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/758.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">758.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0271623&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0271623</a>, <a href="https://bioportal.bioontology.org/search?q=C0022735&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022735</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000044" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000044</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000044" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000044</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">
|
|
<strong> MOLECULAR BASIS </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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|
|
- Caused by mutation in the SRY (sex determining region Y)-box 2 gene (SOX2, <a href="/entry/184429#0001">184429.0001</a>)<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 class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
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</div>
|
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
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<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Microphthalmia, syndromic
|
|
- <a href="/phenotypicSeries/PS309800">PS309800</a>
|
|
- 18 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
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|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/124?start=-3&limit=10&highlight=124"> 3p24.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615524"> Microphthalmia, syndromic 12 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615524"> 615524 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/180220"> RARB </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/180220"> 180220 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/890?start=-3&limit=10&highlight=890"> 3q26.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/206900"> Microphthalmia, syndromic 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/206900"> 206900 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/184429"> SOX2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/184429"> 184429 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/890?start=-3&limit=10&highlight=890"> 3q26.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/206900"> Optic nerve hypoplasia and abnormalities of the central nervous system </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/206900"> 206900 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/184429"> SOX2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/184429"> 184429 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/603?start=-3&limit=10&highlight=603"> 4q31.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615877"> Microphthalmia/coloboma and skeletal dysplasia syndrome </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615877"> 615877 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604357"> MAB21L2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604357"> 604357 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/695?start=-3&limit=10&highlight=695"> 4q34.3-q35.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615145"> Microphthalmia, syndromic 15 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615145"> 615145 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610083"> TENM3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610083"> 610083 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/695?start=-3&limit=10&highlight=695"> 4q34.3-q35.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615145"> ?Microphthalmia/coloboma 9 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615145"> 615145 </a>
|
|
</span>
|
|
</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/610083"> TENM3 </a>
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|
</span>
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</td>
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<td>
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<span class="mim-font">
|
|
<a href="/entry/610083"> 610083 </a>
|
|
</span>
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</td>
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</tr>
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|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/6/740?start=-3&limit=10&highlight=740"> 6q21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
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<a href="/entry/601349"> Microphthalmia, syndromic 8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="?Autosomal dominant">?AD</abbr>
|
|
|
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</span>
|
|
</td>
|
|
<td>
|
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<span class="mim-font">
|
|
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|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </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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<a href="/entry/601349"> 601349 </a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/601349"> MCOPS8 </a>
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/601349"> 601349 </a>
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</span>
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</td>
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</tr>
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/10/592?start=-3&limit=10&highlight=592"> 10q25.3 </a>
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|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614402"> ?Microphthalmia, syndromic 11 </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">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
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</span>
|
|
</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/614402"> 614402 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604294"> VAX1 </a>
|
|
</span>
|
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</td>
|
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<td>
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|
<span class="mim-font">
|
|
<a href="/entry/604294"> 604294 </a>
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</span>
|
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</td>
|
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</tr>
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|
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|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/246?start=-3&limit=10&highlight=246"> 14q22.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607932"> Microphthalmia, syndromic 6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607932"> 607932 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/112262"> BMP4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/112262"> 112262 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/266?start=-3&limit=10&highlight=266"> 14q22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610125"> Retinal dystrophy, early-onset, with or without pituitary dysfunction </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610125"> 610125 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600037"> OTX2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600037"> 600037 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/266?start=-3&limit=10&highlight=266"> 14q22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610125"> Microphthalmia, syndromic 5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610125"> 610125 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600037"> OTX2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600037"> 600037 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/375?start=-3&limit=10&highlight=375"> 15q24.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601186"> Microphthalmia, syndromic 9 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601186"> 601186 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610745"> STRA6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610745"> 610745 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/15/375?start=-3&limit=10&highlight=375"> 15q24.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601186"> Microphthalmia, isolated, with coloboma 8 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601186"> 601186 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610745"> STRA6 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610745"> 610745 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/55?start=-3&limit=10&highlight=55"> Xp22.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/309801"> Linear skin defects with multiple congenital anomalies 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/309801"> 309801 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300056"> HCCS </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300056"> 300056 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/172?start=-3&limit=10&highlight=172"> Xp11.4 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300166"> Microphthalmia, syndromic 2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300166"> 300166 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300485"> BCOR </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300485"> 300485 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/795?start=-3&limit=10&highlight=795"> Xq28 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300915"> ?Microphthalmia, syndromic 13 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300915"> 300915 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300193"> HMGB3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300193"> 300193 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/X/845?start=-3&limit=10&highlight=845"> Xq28 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/309800"> Microphthalmia, syndromic 1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked">XL</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/309800"> 309800 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300013"> NAA10 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300013"> 300013 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
Not Mapped
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611222"> Microphthalmia, syndromic 10 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611222"> 611222 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611222"> MCOPS10 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611222"> 611222 </a>
|
|
</span>
|
|
</td>
|
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</tr>
|
|
|
|
</tbody>
|
|
</table>
|
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</div>
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<div class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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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="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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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that syndromic microphthalmia-3 (MCOPS3) is caused by heterozygous mutation in the SOX2 gene (<a href="/entry/184429">184429</a>) on chromosome 3q26.</p>
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<p>Syndromic microphthalmia-3 (MCOPS3) is characterized by clinical anophthalmia or microphthalmia with or without defects of the optic nerve, optic chiasm, and optic tract. Extraocular abnormalities include brain anomalies, seizures, motor disability, neurocognitive delays, sensorineural hearing loss, and esophageal atresia. Hypoplasia of the anterior pituitary is another major complication, which frequently results in growth hormone deficiency; however, gonadotropin deficiency is likely to be the most consistent endocrinopathy in patients with SOX2 mutation (summary by <a href="#20" class="mim-tip-reference" title="Numakura, C., Kitanaka, S., Kato, M., Ishikawa, S., Hamamoto, Y., Katsushima, Y., Kimura, T., Hayasaka, K. <strong>Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome.</strong> Am. J. Med. Genet. 152A: 2355-2359, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20803647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20803647</a>] [<a href="https://doi.org/10.1002/ajmg.a.33556" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20803647">Numakura et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20803647" 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 term 'anophthalmia' has been misused in the medical literature. True or primary anophthalmia is rarely compatible with life; in such cases, the primary optic vesicle has stopped developing and the abnormal development involves major defects in the brain as well (<a href="#10" class="mim-tip-reference" title="Francois, J. <strong>Heredity in Ophthalmology.</strong> St. Louis: C. V. Mosby (pub.) 1961. P. 173."None>Francois, 1961</a>). The diagnosis can only be made histologically (<a href="#24" class="mim-tip-reference" title="Reddy, M. A., Francis, P. J., Berry, V., Bradshaw, K., Patel, R. J., Maher, E. R., Kumar, R., Bhattacharya, S. S., Moore, A. T. <strong>A clinical and molecular genetic study of a rare dominantly inherited syndrome (MRCS) comprising of (sic) microcornea, rod-cone dystrophy, cataract, and posterior staphyloma.</strong> Brit. J. Ophthal. 87: 197-202, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12543751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12543751</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12543751[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/bjo.87.2.197" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12543751">Reddy et al., 2003</a>; <a href="#19" class="mim-tip-reference" title="Morini, F., Pacilli, M., Spitz, L. <strong>Bilateral anophthalmia and esophageal atresia: report of a new patient and review of the literature. (Letter)</strong> Am. J. Med. Genet. 132A: 60-62, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15389708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15389708</a>] [<a href="https://doi.org/10.1002/ajmg.a.30283" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15389708">Morini et al., 2005</a>; <a href="#30" class="mim-tip-reference" title="Smartt, J. M., Jr., Kherani, F., Saddiqi, F., Katowitz, J. A., Bartlett, S. P. <strong>Microphthalmia and synostotic frontal plagiocephaly: a rare clinical entity with implications for craniofacial reconstruction.</strong> Plast. Reconstr. Surg. 116: 1e-9e, 2005. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15988238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15988238</a>] [<a href="https://doi.org/10.1097/01.prs.0000169706.29344.e4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15988238">Smartt et al., 2005</a>), but this is rarely done. In most published cases, the term 'anophthalmia' is used as a synonym for the more appropriate terms 'extreme microphthalmia' or 'clinical anophthalmia.' <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15988238+12543751+15389708" 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="#25" class="mim-tip-reference" title="Rogers, R. C. <strong>Unknown cases: S.C.B. (GGC-10079) 11 month old white male.</strong> Proc. Greenwood Genet. Center 7: 57 only, 1988."None>Rogers (1988)</a> reported an 11-month-old male infant with bilateral clinical anophthalmia, esophageal atresia with tracheoesophageal fistula, and glanular hypospadias. The patient was noted to have normal intellectual development but delayed motor development. <a href="#2" class="mim-tip-reference" title="Arroyo, I., Garcia, M. J., Cimadevilla, C. E., Carretero, V., Bermejo, E., Martinez-Frias, M. L. <strong>Bilateral anophthalmia, esophageal atresia, and right cryptorchidism: a new entity?</strong> Am. J. Med. Genet. 43: 686-687, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1352427/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1352427</a>] [<a href="https://doi.org/10.1002/ajmg.1320430406" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1352427">Arroyo et al. (1992)</a> reported a male infant with bilateral clinical anophthalmia and esophageal atresia who had no other pathologic findings except for right cryptorchidism with normal scrotum and penis. The authors believed that this represented a second case of the disorder described by <a href="#25" class="mim-tip-reference" title="Rogers, R. C. <strong>Unknown cases: S.C.B. (GGC-10079) 11 month old white male.</strong> Proc. Greenwood Genet. Center 7: 57 only, 1988."None>Rogers (1988)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1352427" 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="#26" class="mim-tip-reference" title="Sandler, D., Mancuso, A., Becker, T., Zori, R., Hellrung, J., Silverstein, J., Burton, V., Hamosh, A., Williams, C. <strong>Association of anophthalmia and esophageal atresia.</strong> Am. J. Med. Genet. 59: 484-491, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8585569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8585569</a>] [<a href="https://doi.org/10.1002/ajmg.1320590415" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8585569">Sandler et al. (1995)</a> reported a boy and a girl from unrelated families with bilateral anophthalmia and proximal esophageal atresia. In addition to vestigial optic nerves and chiasma, MRI studies showed other central nervous system abnormalities: one had ectopic tissue in the hypothalamic region and the other had generalized ventriculomegaly associated with atrophy. <a href="#26" class="mim-tip-reference" title="Sandler, D., Mancuso, A., Becker, T., Zori, R., Hellrung, J., Silverstein, J., Burton, V., Hamosh, A., Williams, C. <strong>Association of anophthalmia and esophageal atresia.</strong> Am. J. Med. Genet. 59: 484-491, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8585569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8585569</a>] [<a href="https://doi.org/10.1002/ajmg.1320590415" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8585569">Sandler et al. (1995)</a> concluded that these defects represent a nonrandom concurrence. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8585569" 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="#32" class="mim-tip-reference" title="Ulman, I., Herek, O., Genc, A. K., Erdener, A. <strong>Microphthalmos associated with esophageal atresia.</strong> J. Pediat. Surg. 31: 433-434, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8708919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8708919</a>] [<a href="https://doi.org/10.1016/s0022-3468(96)90754-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8708919">Ulman et al. (1996)</a> reported a boy with esophageal atresia, tracheoesophageal fistula, unilateral microphthalmia, and glanular hypospadias. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8708919" 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="#29" class="mim-tip-reference" title="Shah, D., Jones, R., Porter, H., Turnpenny, P. <strong>Bilateral microphthalmia, esophageal atresia, and cryptorchidism: the anophthalmia-esophageal-genital syndrome.</strong> Am. J. Med. Genet. 70: 171-173, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9128938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9128938</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19970516)70:2<171::aid-ajmg13>3.0.co;2-g" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9128938">Shah et al. (1997)</a> reported a male infant with bilateral microphthalmia, esophageal atresia with distal tracheoesophageal fistula, micropenis, and cryptorchidism. Other features included low-set posteriorly angulated ears with simple flat pinnae, right facial palsy, and hockey-stick palmar creases. CT scan revealed cavum septi pellucidi and extensive low attenuation of white matter bilaterally, suggesting leukomalacia. The patient was treated palliatively and died at day 8; autopsy revealed an absent gallbladder, extensive bilateral periventricular leukomalacia, olfactory aplasia, and multiple cerebellar cortical heterotopia. <a href="#29" class="mim-tip-reference" title="Shah, D., Jones, R., Porter, H., Turnpenny, P. <strong>Bilateral microphthalmia, esophageal atresia, and cryptorchidism: the anophthalmia-esophageal-genital syndrome.</strong> Am. J. Med. Genet. 70: 171-173, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9128938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9128938</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19970516)70:2<171::aid-ajmg13>3.0.co;2-g" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9128938">Shah et al. (1997)</a> suggested the name 'anophthalmia-esophageal-genital syndrome' (AEG syndrome) for this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9128938" 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="#13" class="mim-tip-reference" title="Imaizumi, K., Ishii, T., Kimura, J., Masuno, M., Kuroki, Y. <strong>Association of microphthalmia with esophageal atresia: report of two new patients and review of the literature.</strong> Am. J. Med. Genet. 87: 180-182, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10533033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10533033</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19991119)87:2<180::aid-ajmg10>3.0.co;2-m" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10533033">Imaizumi et al. (1999)</a> reported 2 male patients with unilateral microphthalmia and esophageal atresia. Mild psychomotor delay and severe bilateral hearing loss were present in 1 patient; the other had T4-S hemivertebrae and 11 ribs on the left side. The authors concluded that these cases provide further support for recognizing this association as a distinct syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10533033" 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="#17" class="mim-tip-reference" title="Menetrey, C., Belin, V., Odent, S., de Lumley, L., Gilbert, B. <strong>Bilateral anophthalmia and oesophageal atresia in a newborn female: a new case of the anophthalmia-oesophageal-genital (AEG) syndrome.</strong> Clin. Dysmorph. 11: 139-140, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12002146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12002146</a>] [<a href="https://doi.org/10.1097/00019605-200204000-00013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12002146">Menetrey et al. (2002)</a> reported a newborn female with bilateral anophthalmia and esophageal atresia, who died shortly after birth. They stated that this was the seventh reported case of this syndrome and noted that all cases had been sporadic. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12002146" 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="#18" class="mim-tip-reference" title="Messina, M., Ferrucci, E., Buonocore, G., Scarinci, R., Garzi, A. <strong>Association of microphthalmia and esophageal atresia: description of a patient and review of the literature.</strong> Am. J. Med. Genet. 119A: 184-187, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12749061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12749061</a>] [<a href="https://doi.org/10.1002/ajmg.a.20098" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12749061">Messina et al. (2003)</a> reported a male infant with left microphthalmia, esophageal atresia, and marked hypoplasia of the entire left half of the body. A chorioretinal coloboma was noted in the right eye; on CT scan, there was diffuse hypodensity of the white matter of both hemispheres. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12749061" 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="#22" class="mim-tip-reference" title="Petrackova, I., Pozler, O., Kokstein, Z., Zizka, J., Dedkova, J., Rejtar, P., Fiedler, Z., Kuliacek, P. <strong>Association of oesophageal atresia, anophthalmia and renal duplex.</strong> Europ. J. Pediat. 163: 333-334, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15346919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15346919</a>] [<a href="https://doi.org/10.1007/s00431-004-1424-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15346919">Petrackova et al. (2004)</a> reported a male infant with bilateral clinical anophthalmia and esophageal atresia with distal tracheoesophageal fistula. He had normal genitals, duplication of the left kidney, and significant psychomotor delay. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15346919" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Bonneau, D., Guichet, A., Boussion, F., Lepinard, C., Biquard, F., Descamps, P. <strong>Absence of deletion at the SOX2 locus in a case of microphthalmia and esophageal atresia. (Letter)</strong> Am. J. Med. Genet. 131A: 204 only, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15487011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15487011</a>] [<a href="https://doi.org/10.1002/ajmg.a.30180" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15487011">Bonneau et al. (2004)</a> reported the eleventh case of anophthalmia/microphthalmia and esophageal atresia (AMEA). In her neonatal period, the proband had been operated on for type III esophageal atresia. At the age of 6 years, she received an ocular prosthesis for colobomatous microphthalmia of the right eye. The left eye was normal. No deletion of the SOX2 locus (<a href="/entry/184429">184429</a>), which had been implicated in anophthalmia/microphthalmia, was found; a search for SOX2 mutations was not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15487011" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Bardakjian, T. M., Schneider, A. <strong>Association of anophthalmia and esophageal atresia: four new cases identified by the Anophthalmia/Microphthalmia Clinical Registry.</strong> Am. J. Med. Genet. 132A: 54-56, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15578584/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15578584</a>] [<a href="https://doi.org/10.1002/ajmg.a.30442" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15578584">Bardakjian and Schneider (2005)</a> reported 3 unrelated boys and an unrelated girl with clinical anophthalmia/microphthalmia and esophageal atresia. All 3 boys had genital anomalies involving hypospadias and cryptorchidism, and 2 also had cardiac anomalies: 1 had a large ventricular septal defect and the other, patent ductus arteriosus and a patent foramen ovale. One boy had holoprosencephaly with marked dilation of the ventricles seen on head CT. Three of the 4 patients also had vertebral anomalies: 1 boy had underdeveloped vertebrae; a second boy had 2 ossified ribs on the right and 11 on the left and multiple vertebral anomalies between T3 and T8, including 2 hemivertebrae; and the girl had cervical hemivertebrae and T1-T7 hemivertebrae as well as 13 ribs. Although 1 patient was developmentally delayed, another had been valedictorian in high school and was attending college. <a href="#3" class="mim-tip-reference" title="Bardakjian, T. M., Schneider, A. <strong>Association of anophthalmia and esophageal atresia: four new cases identified by the Anophthalmia/Microphthalmia Clinical Registry.</strong> Am. J. Med. Genet. 132A: 54-56, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15578584/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15578584</a>] [<a href="https://doi.org/10.1002/ajmg.a.30442" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15578584">Bardakjian and Schneider (2005)</a> suggested that because the association of anophthalmia/microphthalmia and esophageal atresia is so rare and most cases have associated anomalies of the CNS, genitalia, and vertebrae as well as other systems, the entity might be better described as anophthalmia/microphthalmia and esophageal atresia with other associated malformations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15578584" 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="#12" class="mim-tip-reference" title="Hill, C. J., Pilz, D. T., Harper, P. S., Castle, B., Williams, T. H. C. <strong>Anophthalmia-esophageal-genital syndrome: a further case to define the phenotype. (Letter)</strong> Am. J. Med. Genet. 132A: 57-59, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15384104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15384104</a>] [<a href="https://doi.org/10.1002/ajmg.a.30282" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15384104">Hill et al. (2005)</a> reported a female infant with right-sided clinical anophthalmia, esophageal atresia and tracheoesophageal fistula, and vertebral anomalies, including a T6 hemivertebra, T5 butterfly vertebra, fusion of the posterolateral third and fourth ribs, and fusion of S3 to S5 on the left sacrum. She had low-set ears with a slightly simple ear on the right, her fourth and fifth fingers overlapped the third fingers, and she had a right single palmar crease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15384104" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Morini, F., Pacilli, M., Spitz, L. <strong>Bilateral anophthalmia and esophageal atresia: report of a new patient and review of the literature. (Letter)</strong> Am. J. Med. Genet. 132A: 60-62, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15389708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15389708</a>] [<a href="https://doi.org/10.1002/ajmg.a.30283" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15389708">Morini et al. (2005)</a> reported a female infant with pure esophageal atresia without tracheoesophageal fistula, bilateral clinical anophthalmia, and a patent ductus arteriosus. Microcephaly and mild developmental retardation were also observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15389708" 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="#23" class="mim-tip-reference" title="Ragge, N. K., Lorenz, B., Schneider, A., Bushby, K., de Sanctis, L., de Sanctis, U., Salt, A., Collin, J. R. O., Vivian, A. J., Free, S. L., Thompson, P., Williamson, K. A., Sisodiya, S. M., van Heyningen, V., FitzPatrick, D. R. <strong>SOX2 anophthalmia syndrome.</strong> Am. J. Med. Genet. 135A: 1-7, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15812812/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15812812</a>] [<a href="https://doi.org/10.1002/ajmg.a.30642" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15812812">Ragge et al. (2005)</a> described the clinical features of 5 patients reported by <a href="#9" class="mim-tip-reference" title="Fantes, J., Ragge, N. K., Lynch, S.-A., McGill, N. I., Collin, J. R. O., Howard-Peebles, P. N., Hayward, C., Vivian, A. J., Williamson, K., van Heyningen, V., FitzPatrick, D. R. <strong>Mutations in SOX2 cause anophthalmia.</strong> Nature Genet. 33: 461-463, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12612584/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12612584</a>] [<a href="https://doi.org/10.1038/ng1120" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12612584">Fantes et al. (2003)</a> and 4 additional patients with bilateral clinical anophthalmia/microphthalmia. Extraocular features included mild facial dysmorphism, seizure disorder, global developmental delay, mesial temporal brain malformations, disordered muscle tone with evidence of mild basal ganglia dysfunction, growth failure, and male genital tract abnormalities. The authors noted that the neurologic features were relatively consistent but highly variable in severity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15812812+12612584" 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="#21" class="mim-tip-reference" title="Pedace, L., Castori, M., Binni, F., Pingi, A., Grammatico, B., Scommegna, S., Majore, S., Grammatico, P. <strong>A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies. (Letter)</strong> Europ. J. Med. Genet. 52: 273-276, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19254784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19254784</a>] [<a href="https://doi.org/10.1016/j.ejmg.2009.02.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19254784">Pedace et al. (2009)</a> reported a 6-month-old Italian boy with clinical anophthalmia and severe microphthalmia of the right and left eyes, respectively, associated with micropenis. Ophthalmic examination confirmed the clinical anophthalmia/microphthalmia as well as congenital cataract; in addition, the patient had a depressed and widened nasal bridge and frontal bossing. Penile length was 2 cm, with normally descended testes. Brain MRI revealed that the right globe was virtually absent, whereas the left one was reduced in size with coloboma of the optic nerve. The hypothalamic-pituitary axis appeared normal, but there was bilateral dilatation of the temporal horns and hypoplasia of the hippocampus. Repeated endocrinologic evaluation and brain MRI in this patient did not reveal any morphologic or functional anomaly of the hypothalamic-pituitary axis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19254784" 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="#20" class="mim-tip-reference" title="Numakura, C., Kitanaka, S., Kato, M., Ishikawa, S., Hamamoto, Y., Katsushima, Y., Kimura, T., Hayasaka, K. <strong>Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome.</strong> Am. J. Med. Genet. 152A: 2355-2359, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20803647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20803647</a>] [<a href="https://doi.org/10.1002/ajmg.a.33556" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20803647">Numakura et al. (2010)</a> studied a 21-year-old Japanese man who had bilateral clinical anophthalmia, midface hypoplasia with a patulous lower lip, hypogonadotropic hypogonadism, seizures, spastic diplegia, and intellectual disability. Brain MRI showed a defect of the septum pellucidum and absence of the optic nerve, chiasm, and optic tract. In addition, the patient had difficulty with mastication, and mobility of the mandibular incisors as well as bilateral maxillary and mandibular deciduous molars were observed. Panoramic radiography revealed 9 unerupted teeth, including 5 premolars showing delayed eruption and 4 supernumerary impacted teeth. Noting that multiple supernumerary teeth are rare and usually associated with congenital malformation syndromes, <a href="#20" class="mim-tip-reference" title="Numakura, C., Kitanaka, S., Kato, M., Ishikawa, S., Hamamoto, Y., Katsushima, Y., Kimura, T., Hayasaka, K. <strong>Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome.</strong> Am. J. Med. Genet. 152A: 2355-2359, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20803647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20803647</a>] [<a href="https://doi.org/10.1002/ajmg.a.33556" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20803647">Numakura et al. (2010)</a> concluded that the supernumerary teeth in this patient were likely to be a manifestation of the SOX2 anophthalmia syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20803647" 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 female infant with had bilateral clinical anophthalmia, congenital heart disease, and abnormal genitalia who died 45 hours after delivery, <a href="#6" class="mim-tip-reference" title="Chitayat, D., Babul, R., Silver, M. M., Jay, V., Teshima, I. E., Babyn, P., Becker, L. E. <strong>Terminal deletion of the long arm of chromosome 3 [46,XX,del(3)(q27-qter)].</strong> Am. J. Med. Genet. 61: 45-48, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8741917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8741917</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19960102)61:1<45::AID-AJMG9>3.0.CO;2-W" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8741917">Chitayat et al. (1996)</a> identified a terminal deletion of the long arm of chromosome 3 involving 3q27-qter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8741917" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a female infant with bilateral clinical anophthalmia and a patent foramen ovale or small atrial septal defect on echocardiogram, and a male infant who was large for gestational age and had mild hypertelorism, severe bilateral microphthalmia, bilateral large colobomatous cysts, severe optic nerve hypoplasia, and bilateral sensorineural hearing loss, <a href="#7" class="mim-tip-reference" title="Driggers, R. W., Macri, C. J., Greenwald, J., Carpenter, D., Avallone, J., Howard-Peebles, P. N., Levin, S. W. <strong>Isolated bilateral anophthalmia in a girl with an apparently balanced de novo translocation: 46,XX,t(3;11)(q27;p11.2).</strong> Am. J. Med. Genet. 87: 201-202, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10564870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10564870</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19991126)87:3<201::aid-ajmg1>3.0.co;2-h" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10564870">Driggers et al. (1999)</a> and <a href="#15" class="mim-tip-reference" title="Kurbasic, M., Jones, V. F., Cook, L. N. <strong>Bilateral microphthalmos with colobomatous orbital cyst and de-novo balanced translocation t(3;5).</strong> Ophthal. Genet. 21: 239-242, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11135495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11135495</a>]" pmid="11135495">Kurbasic et al. (2000)</a>, respectively, reported de novo apparently balanced reciprocal translocations involving 3q27. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11135495+10564870" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 unrelated infants with clinical anophthalmia and microphthalmia who had constitutional deletions involving 3q27, <a href="#16" class="mim-tip-reference" title="Male, A., Davies, A., Bergbaum, A., Keeling, J., FitzPatrick, D., Ogilvie, C. M., Berg, J. <strong>Delineation of an estimated 6.7 MB candidate interval for an anophthalmia gene at 3q26.33-q28 and description of the syndrome associated with visible chromosome deletions of this region.</strong> Europ. J. Hum. Genet. 10: 807-812, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12461687/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12461687</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200890" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12461687">Male et al. (2002)</a> identified a 6.7-Mb minimum deleted region common to both patients at 3q26.33-q28. The male infant, who died at 40 days of age from respiratory failure, had multiple abnormalities including bilateral clinical anophthalmia, abnormalities of the first and second cranial nerves, partial absence of the corpus callosum, cleft palate and laryngeal cleft, 13 pairs of ribs, cleft odontoid peg, small penis with hypoplastic scrotum, and bilateral cryptorchidism. The female infant had right clinical anophthalmia and left microphthalmia. Both patients had intrauterine growth retardation with microcephaly and had strikingly similar dysmorphic facies consisting of bossed forehead, downward-slanting palpebral fissures, grooved bridge of the nose, prominent low-set ears, small downturned mouth, and small mandible. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12461687" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="mim-changed mim-change"><p>The heterozygous mutations in the SOX2 gene that were identified in patients with MCOPS3 by <a href="#7" class="mim-tip-reference" title="Driggers, R. W., Macri, C. J., Greenwald, J., Carpenter, D., Avallone, J., Howard-Peebles, P. N., Levin, S. W. <strong>Isolated bilateral anophthalmia in a girl with an apparently balanced de novo translocation: 46,XX,t(3;11)(q27;p11.2).</strong> Am. J. Med. Genet. 87: 201-202, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10564870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10564870</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19991126)87:3<201::aid-ajmg1>3.0.co;2-h" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10564870">Driggers et al. (1999)</a> occurred de novo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10564870" 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></div>
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<p>In the female infant reported by <a href="#7" class="mim-tip-reference" title="Driggers, R. W., Macri, C. J., Greenwald, J., Carpenter, D., Avallone, J., Howard-Peebles, P. N., Levin, S. W. <strong>Isolated bilateral anophthalmia in a girl with an apparently balanced de novo translocation: 46,XX,t(3;11)(q27;p11.2).</strong> Am. J. Med. Genet. 87: 201-202, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10564870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10564870</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19991126)87:3<201::aid-ajmg1>3.0.co;2-h" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10564870">Driggers et al. (1999)</a> with bilateral clinical anophthalmia and a de novo t(3;11)(q27;p11.2), <a href="#9" class="mim-tip-reference" title="Fantes, J., Ragge, N. K., Lynch, S.-A., McGill, N. I., Collin, J. R. O., Howard-Peebles, P. N., Hayward, C., Vivian, A. J., Williamson, K., van Heyningen, V., FitzPatrick, D. R. <strong>Mutations in SOX2 cause anophthalmia.</strong> Nature Genet. 33: 461-463, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12612584/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12612584</a>] [<a href="https://doi.org/10.1038/ng1120" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12612584">Fantes et al. (2003)</a> identified a submicroscopic deletion at the 3q breakpoint, containing the SOX2 gene. By subsequent SOX2 mutation analysis in 102 individuals with microphthalmia, clinical anophthalmia, or coloboma, they identified 3 heterozygous de novo truncating mutations in the SOX2 gene (<a href="/entry/184429#0001">184429.0001</a>-<a href="/entry/184429#0003">184429.0003</a>) in 4 unrelated individuals, 2 with bilateral clinical anophthalmia and 2 with unilateral clinical anophthalmia and contralateral microphthalmia. All 4 patients had associated extraocular abnormalities, including male genital tract abnormalities, myopathy, and spastic diplegia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12612584+10564870" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 4 patients with bilateral clinical anophthalmia/microphthalmia, <a href="#23" class="mim-tip-reference" title="Ragge, N. K., Lorenz, B., Schneider, A., Bushby, K., de Sanctis, L., de Sanctis, U., Salt, A., Collin, J. R. O., Vivian, A. J., Free, S. L., Thompson, P., Williamson, K. A., Sisodiya, S. M., van Heyningen, V., FitzPatrick, D. R. <strong>SOX2 anophthalmia syndrome.</strong> Am. J. Med. Genet. 135A: 1-7, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15812812/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15812812</a>] [<a href="https://doi.org/10.1002/ajmg.a.30642" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15812812">Ragge et al. (2005)</a> identified heterozygous de novo mutations in the SOX2 gene, including a missense mutation (<a href="/entry/184429#0004">184429.0004</a>) and 3 frameshift mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15812812" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 12-year-old girl with bilateral clinical anophthalmia and aplasia of the optic nerve, chiasm, and optic tracts, <a href="#11" class="mim-tip-reference" title="Hagstrom, S. A., Pauer, G. J. T., Reid, J., Simpson, E., Crowe, S., Maumenee, I. H., Traboulsi, E. I. <strong>SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies.</strong> Am. J. Med. Genet. 138A: 95-98, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16145681/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16145681</a>] [<a href="https://doi.org/10.1002/ajmg.a.30803" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16145681">Hagstrom et al. (2005)</a> identified heterozygosity for a de novo nonsense mutation in the SOX2 gene (<a href="/entry/184429#0005">184429.0005</a>). The patient also had mild bilateral sensorineural hearing loss and global developmental delay. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16145681" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an 11-month-old Mexican girl with bilateral clinical anophthalmia, mild facial dysmorphism, and developmental delay, <a href="#34" class="mim-tip-reference" title="Zenteno, J. C., Gascon-Guzman, G., Tovilla-Canales, J. L. <strong>Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene. (Letter)</strong> Clin. Genet. 68: 564-566, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16283891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16283891</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2005.00518.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16283891">Zenteno et al. (2005)</a> identified heterozygosity for a 20-bp deletion in the SOX2 gene (70del20; <a href="/entry/184429#0010">184429.0010</a>). The patient had frontal bossing and a broad nasal root, as well as congenital left hip dislocation. Orbital and brain CT scan demonstrated absence of eye globes, rudimentary optic nerves, partial agenesis of the corpus callosum, and marked cystic dilation of the third ventricle due to a suprasellar cyst. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16283891" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#33" class="mim-tip-reference" title="Williamson, K. A., Hever, A. M., Rainger, J., Rogers, R. C., Magee, A., Fiedler, Z., Keng, W. T., Sharkey, F. H., McGill, N., Hill, C. J., Schneider, A., Messina, M., Turnpenny, P. D., Fantes, J. A., van Heyningen, V., FitzPatrick, D. R. <strong>Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.</strong> Hum. Molec. Genet. 15: 1413-1422, 2006. Note: Erratum: Hum. Molec. Genet. 15: 2030 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16543359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16543359</a>] [<a href="https://doi.org/10.1093/hmg/ddl064" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16543359">Williamson et al. (2006)</a> identified heterozygous loss-of-function mutations in the SOX2 gene (<a href="/entry/184429#0006">184429.0006</a>-<a href="/entry/184429#0008">184429.0008</a>) in 3 unrelated patients with microphthalmia and esophageal atresia: 1 was the original patient reported by <a href="#25" class="mim-tip-reference" title="Rogers, R. C. <strong>Unknown cases: S.C.B. (GGC-10079) 11 month old white male.</strong> Proc. Greenwood Genet. Center 7: 57 only, 1988."None>Rogers (1988)</a>; another was the male infant described by <a href="#22" class="mim-tip-reference" title="Petrackova, I., Pozler, O., Kokstein, Z., Zizka, J., Dedkova, J., Rejtar, P., Fiedler, Z., Kuliacek, P. <strong>Association of oesophageal atresia, anophthalmia and renal duplex.</strong> Europ. J. Pediat. 163: 333-334, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15346919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15346919</a>] [<a href="https://doi.org/10.1007/s00431-004-1424-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15346919">Petrackova et al. (2004)</a>; and the third was a new case, a female infant with extreme bilateral microphthalmia, severe blepharophimosis, and esophageal atresia with distal tracheoesophageal fistula. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16543359+15346919" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a female infant with bilateral clinical anophthalmos, very narrow palpebral fissures with synechiae, microcephaly, and psychomotor retardation, <a href="#8" class="mim-tip-reference" title="Faivre, L., Williamson, K. A., Faber, V., Laurent, N., Grimaldi, M., Thauvin-Robinet, C., Durand, C., Mugneret, F., Gouyon, J.-B., Bron, A., Huet, F., Hayward, C., van Heyningen, V., FitzPatrick, D. R. <strong>Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother. (Letter)</strong> Am. J. Med. Genet. 140A: 636-639, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16470798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16470798</a>] [<a href="https://doi.org/10.1002/ajmg.a.31114" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16470798">Faivre et al. (2006)</a> identified heterozygosity for a missense mutation in the SOX2 gene (<a href="/entry/184429#0009">184429.0009</a>). Cerebral MRI revealed a normal corpus callosum, ventricular diameter, and gray and white matter; ocular MRI showed empty orbits except for the presence of intraorbital muscles, and the optic nerve and chiasm could not be visualized. At 1 year of age, the patient could not sit unaided and expressed no sounds. Her unaffected mother was also found to be heterozygous for the mutation; restriction enzyme digestion products were always lower in the mother than the proband, consistent with a lower level of mutant allele in the mother due to somatic mosaicism. An earlier pregnancy had been terminated at 17 weeks' gestation due to severe hydrocephaly; the fetus was found to have a significantly increased occipitofrontal circumference, left cryptophthalmos and bilateral clinical anophthalmos, major dilation of the lateral and third ventricles with hypoplastic white matter and optic nerve agenesis, absence of the corpus callosum, and minor hypoplasia of the inferior cerebellar vermis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16470798" 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="#35" class="mim-tip-reference" title="Zenteno, J. C., Perez-Cano, H. J., Aguinaga, M. <strong>Anophthalmia-esophageal atresia syndrome caused by an (sic) SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes.</strong> Am. J. Med. Genet. 140A: 1899-1903, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16892407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16892407</a>] [<a href="https://doi.org/10.1002/ajmg.a.31384" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16892407">Zenteno et al. (2006)</a> described male monozygotic twin infants with esophageal atresia and a discordant ocular phenotype in whom they identified heterozygosity for the 70del20 mutation in the SOX2 gene. One twin had an irregular skull, facial asymmetry, left clinical anophthalmia, flat nasal bridge, retrognathia, low-set ears, bilateral cryptorchidism, and tracheoesophageal fistula. The other twin had normal ocular globes, narrowing of the right palpebral fissure, flat nasal bridge, normal genitalia, and tracheoesophageal fistula. <a href="#35" class="mim-tip-reference" title="Zenteno, J. C., Perez-Cano, H. J., Aguinaga, M. <strong>Anophthalmia-esophageal atresia syndrome caused by an (sic) SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes.</strong> Am. J. Med. Genet. 140A: 1899-1903, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16892407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16892407</a>] [<a href="https://doi.org/10.1002/ajmg.a.31384" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16892407">Zenteno et al. (2006)</a> stated that this was the first reported case of SOX2 mutation causing a unilateral eye defect and the first example of monozygotic twins discordant for anophthalmia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16892407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Kelberman, D., Rizzoti, K., Avilion, A., Bitner-Glindicz, M., Cianfarani, S., Collins, J., Chong, W. K., Kirk, J. M. W., Achermann, J. C., Ross, R., Carmignac, D., Lovell-Badge, R., Robinson, I. C. A. F., Dattani, M. T. <strong>Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans.</strong> J. Clin. Invest. 116: 2442-2455, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16932809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16932809</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16932809[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/10.1172/JCI28658" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16932809">Kelberman et al. (2006)</a> screened 235 probands with congenital hypothalamo-pituitary disorders for mutations in the SOX2 gene and identified 6 patients with clinical anophthalmia or microphthalmia who had heterozygous de novo mutations (see, e.g., <a href="/entry/184429#0001">184429.0001</a> and <a href="/entry/184429#0010">184429.0010</a>) and 2 patients with bilateral optic nerve hypoplasia who had heterozygous inherited mutations (see <a href="/entry/184429#0012">184429.0012</a> and <a href="/entry/184429#0013">184429.0013</a>). One of the patients was a 13-year-old girl with bilateral clinical anophthalmia and a history of esophageal atresia who had previously been reported by <a href="#19" class="mim-tip-reference" title="Morini, F., Pacilli, M., Spitz, L. <strong>Bilateral anophthalmia and esophageal atresia: report of a new patient and review of the literature. (Letter)</strong> Am. J. Med. Genet. 132A: 60-62, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15389708/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15389708</a>] [<a href="https://doi.org/10.1002/ajmg.a.30283" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15389708">Morini et al. (2005)</a>; she was found to be heterozygous for a 1-bp insertion in the SOX2 gene (<a href="/entry/184429#0011">184429.0011</a>). In addition to bilateral eye defects, all patients with SOX2 mutations had various associated anomalies, including anterior pituitary hypoplasia and hypogonadotropic hypogonadism, variable defects affecting the corpus callosum and mesial temporal structures, hypothalamic hamartoma, learning difficulties, sensorineural hearing loss, and esophageal atresia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15389708+16932809" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 female sibs, 1 of whom was previously reported by <a href="#17" class="mim-tip-reference" title="Menetrey, C., Belin, V., Odent, S., de Lumley, L., Gilbert, B. <strong>Bilateral anophthalmia and oesophageal atresia in a newborn female: a new case of the anophthalmia-oesophageal-genital (AEG) syndrome.</strong> Clin. Dysmorph. 11: 139-140, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12002146/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12002146</a>] [<a href="https://doi.org/10.1097/00019605-200204000-00013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12002146">Menetrey et al. (2002)</a>, <a href="#5" class="mim-tip-reference" title="Chassaing, N., Gilbert-Dussardier, B., Nicot, F., Fermeaux, V., Encha-Razavi, F., Fiorenza, M., Toutain, A., Calvas, P. <strong>Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement.</strong> Am. J. Med. Genet. 143A: 289-291, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17219395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17219395</a>] [<a href="https://doi.org/10.1002/ajmg.a.31524" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17219395">Chassaing et al. (2007)</a> identified heterozygosity for a 17-bp deletion in the SOX2 gene (<a href="/entry/184429#0014">184429.0014</a>). The first sib had bilateral anophthalmia and esophageal atresia and died shortly after birth. During the mother's subsequent pregnancy, the fetus showed severe and progressive triventricular hydrocephalus on ultrasound, and the pregnancy was interrupted. Autopsy showed stenosis of the Sylvian aqueduct, hypoplasia of the corpus callosum, and 11 rib pairs, but normal external ocular examination and gestational age-appropriate ocular length. Extensive microscopic examination revealed no subtle anomaly of the ocular structures. The mother was found to have germinal mosaicism for the mutation, estimated at approximately 3%. <a href="#5" class="mim-tip-reference" title="Chassaing, N., Gilbert-Dussardier, B., Nicot, F., Fermeaux, V., Encha-Razavi, F., Fiorenza, M., Toutain, A., Calvas, P. <strong>Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement.</strong> Am. J. Med. Genet. 143A: 289-291, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17219395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17219395</a>] [<a href="https://doi.org/10.1002/ajmg.a.31524" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17219395">Chassaing et al. (2007)</a> concluded that SOX2 haploinsufficiency can cause a variable ocular phenotype ranging from normal eyes to anophthalmia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12002146+17219395" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 sisters with bilateral clinical anophthalmia/microphthalmia and brain anomalies, <a href="#27" class="mim-tip-reference" title="Schneider, A., Bardakjian, T. M., Zhou, J., Hughes, N., Keep, R., Dorsainville, D., Kherani, F., Katowitz, J., Schimmenti, L. A., Hummel, M., FitzPatrick, D. R., Young, T. L. <strong>Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters.</strong> Am. J. Med. Genet. 146A: 2794-2798, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18831064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18831064</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18831064[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/10.1002/ajmg.a.32384" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18831064">Schneider et al. (2008)</a> identified heterozygosity for a 1-bp deletion in the SOX2 gene (<a href="/entry/184429#0015">184429.0015</a>). The younger sister's development was more advanced than her older sib at the same age, showing that differences in development can occur in sibs with the same SOX2 mutation. The younger sister also had hypothyroidism, which had not previously been reported in MCOPS3. The unaffected mother, who had 2 healthy older children, was found to have a reduced signal for the deletion in peripheral blood and buccal cell DNA, confirming somatic mosaicism; the mutation was not found in the maternal grandparents. <a href="#27" class="mim-tip-reference" title="Schneider, A., Bardakjian, T. M., Zhou, J., Hughes, N., Keep, R., Dorsainville, D., Kherani, F., Katowitz, J., Schimmenti, L. A., Hummel, M., FitzPatrick, D. R., Young, T. L. <strong>Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters.</strong> Am. J. Med. Genet. 146A: 2794-2798, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18831064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18831064</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18831064[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/10.1002/ajmg.a.32384" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18831064">Schneider et al. (2008)</a> noted that this was the third report of a family in which an unaffected mosaic mother transmitted bilateral clinical anophthalmia to 2 female offspring (see <a href="#8" class="mim-tip-reference" title="Faivre, L., Williamson, K. A., Faber, V., Laurent, N., Grimaldi, M., Thauvin-Robinet, C., Durand, C., Mugneret, F., Gouyon, J.-B., Bron, A., Huet, F., Hayward, C., van Heyningen, V., FitzPatrick, D. R. <strong>Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother. (Letter)</strong> Am. J. Med. Genet. 140A: 636-639, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16470798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16470798</a>] [<a href="https://doi.org/10.1002/ajmg.a.31114" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16470798">Faivre et al., 2006</a> and <a href="#5" class="mim-tip-reference" title="Chassaing, N., Gilbert-Dussardier, B., Nicot, F., Fermeaux, V., Encha-Razavi, F., Fiorenza, M., Toutain, A., Calvas, P. <strong>Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement.</strong> Am. J. Med. Genet. 143A: 289-291, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17219395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17219395</a>] [<a href="https://doi.org/10.1002/ajmg.a.31524" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17219395">Chassaing et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17219395+18831064+16470798" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 6-month-old Italian boy with clinical anophthalmia and severe microphthalmia of the right and left eyes, respectively, associated with micropenis, <a href="#21" class="mim-tip-reference" title="Pedace, L., Castori, M., Binni, F., Pingi, A., Grammatico, B., Scommegna, S., Majore, S., Grammatico, P. <strong>A novel heterozygous SOX2 mutation causing anophthalmia/microphthalmia with genital anomalies. (Letter)</strong> Europ. J. Med. Genet. 52: 273-276, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19254784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19254784</a>] [<a href="https://doi.org/10.1016/j.ejmg.2009.02.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19254784">Pedace et al. (2009)</a> analyzed the SOX2 gene and identified heterozygosity for a 2-bp insertion (<a href="/entry/184429#0016">184429.0016</a>). The mutation was not detected in the patient's unaffected second-cousin parents or in his unaffected dizygotic twin, and was not found in 200 control chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19254784" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 21-year-old Japanese man with bilateral clinical anophthalmia, hypogonadotropic hypogonadism, seizures, spastic diplegia, and intellectual disability, who was negative for mutation in the HESX1 gene (<a href="/entry/601802">601802</a>), <a href="#20" class="mim-tip-reference" title="Numakura, C., Kitanaka, S., Kato, M., Ishikawa, S., Hamamoto, Y., Katsushima, Y., Kimura, T., Hayasaka, K. <strong>Supernumerary impacted teeth in a patient with SOX2 anophthalmia syndrome.</strong> Am. J. Med. Genet. 152A: 2355-2359, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20803647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20803647</a>] [<a href="https://doi.org/10.1002/ajmg.a.33556" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20803647">Numakura et al. (2010)</a> identified heterozygosity for a nonsense mutation in SOX2 (<a href="/entry/184429#0017">184429.0017</a>). The patient also had a dental anomaly, consisting of multiple supernumerary impacted teeth and persistence of deciduous teeth. Although the role of SOX2 in dental development was as yet unknown, the authors considered the supernumerary teeth to be an extraocular symptom of the SOX2 anophthalmia syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20803647" 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="Alatzoglou, K. S., Andoniadou, C. L., Kelberman, D., Buchanan, C. R., Crolla, J., Arriazu, M. C., Roubicek, M., Moncet, D., Martinez-Barbera, J. P., Dattani, M. T. <strong>SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumours.</strong> Hum. Mutat. 32: 1376-1380, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21919124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21919124</a>] [<a href="https://doi.org/10.1002/humu.21606" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21919124">Alatzoglou et al. (2011)</a> reported 2 unrelated patients with bilateral clinical anophthalmia and nonprogressive pituitary tumors of early onset associated with SOX2 haploinsufficiency, due to heterozygosity for a 731-kb deletion on chromosome 3q26 encompassing SOX2 in 1 patient and a SOX2 nonsense mutation (F48X; <a href="/entry/184429#0018">184429.0018</a>) in the other. <a href="#1" class="mim-tip-reference" title="Alatzoglou, K. S., Andoniadou, C. L., Kelberman, D., Buchanan, C. R., Crolla, J., Arriazu, M. C., Roubicek, M., Moncet, D., Martinez-Barbera, J. P., Dattani, M. T. <strong>SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumours.</strong> Hum. Mutat. 32: 1376-1380, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21919124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21919124</a>] [<a href="https://doi.org/10.1002/humu.21606" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21919124">Alatzoglou et al. (2011)</a> stated that this was the first time that SOX2 haploinsufficiency had been implicated in the generation of pituitary tumors. The patient with the deletion was born with bilateral clinical anophthalmia and had severely impaired language development and delayed motor milestones. She presented at 18 years of age with pubertal delay and was Tanner stage I with short stature on examination; endocrine evaluation revealed undetectable estradiol with low basal gonadotropins and flat luteinizing hormone (LH; <a href="/entry/152780">152780</a>) and follicle-stimulating hormone (FSH: <a href="/entry/136530">136530</a>) responses to GnRH (<a href="/entry/152760">152760</a>) stimulation, consistent with a diagnosis of hypogonadotropic hypogonadism. MRI revealed a sellar tumor with a cystic component, extending into the suprasellar area, with no evidence of compression syndrome. Hormone replacement therapy was declined, and at 24 years of age the patient developed spontaneous but incomplete puberty (breast Tanner stage 2). Repeat MRI at that time as well as sequential MR imaging over a 10-year period showed no significant change in size or morphology of the tumor, and there was no evidence of development of additional pituitary hormone deficiencies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21919124" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an 8-year-old boy with bilateral clinical anophthalmia and endocrinologic abnormalities and his 8-month-old sister who had unilateral microphthalmia and retinal coloboma, <a href="#31" class="mim-tip-reference" title="Stark, Z., Storen, R., Bennetts, B., Savarirayan, R., Jamieson, R. V. <strong>Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring.</strong> Europ. J. Hum. Genet. 19: 753-756, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21326281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21326281</a>] [<a href="https://doi.org/10.1038/ejhg.2011.11" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21326281">Stark et al. (2011)</a> identified heterozygosity for a 1-bp deletion in the SOX2 gene (<a href="/entry/184429#0019">184429.0019</a>). Their mother, who was diagnosed with isolated hypogonadotropic hypogonadism (see <a href="/entry/147950">147950</a>) and had undergone assisted reproduction to achieve fertility, was also heterozygous for the deletion. She had no dysmorphic features and a normal sense of smell, and ophthalmologic examination was normal. Sequencing results in the mother suggested possible mosaicism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21326281" 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="#28" class="mim-tip-reference" title="Schneider, A., Bardakjian, T., Reis, L. M., Tyler, R. C., Semina, E. V. <strong>Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.</strong> Am. J. Med. Genet. 149A: 2706-2715, 2009. Note: Erratum: Am. J. Med. Genet. 158A: 267 only, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19921648/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19921648</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19921648[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/10.1002/ajmg.a.33098" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19921648">Schneider et al. (2009)</a> screened the SOX2 gene in 51 unrelated patients with clinical anophthalmia and/or microphthalmia and identified heterozygous SOX2 mutations in 10 of them, including 3 patients with the recurrent 20-bp deletion (70del20; <a href="/entry/184429#0010">184429.0010</a>). Analysis of all reported patients with SOX2 mutations suggested a potential genotype/phenotype correlation, with missense changes generally resulting in less severe ocular defects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19921648" 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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Alatzoglou, K. S., Andoniadou, C. L., Kelberman, D., Buchanan, C. R., Crolla, J., Arriazu, M. C., Roubicek, M., Moncet, D., Martinez-Barbera, J. P., Dattani, M. T.
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<strong>SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumours.</strong>
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Hum. Mutat. 32: 1376-1380, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21919124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21919124</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21919124" 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/humu.21606" target="_blank">Full Text</a>]
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Arroyo, I., Garcia, M. J., Cimadevilla, C. E., Carretero, V., Bermejo, E., Martinez-Frias, M. L.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1352427/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1352427</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1352427" 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.1320430406" target="_blank">Full Text</a>]
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Bardakjian, T. M., Schneider, A.
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<strong>Association of anophthalmia and esophageal atresia: four new cases identified by the Anophthalmia/Microphthalmia Clinical Registry.</strong>
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Am. J. Med. Genet. 132A: 54-56, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15578584/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15578584</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15578584" 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.30442" target="_blank">Full Text</a>]
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Bonneau, D., Guichet, A., Boussion, F., Lepinard, C., Biquard, F., Descamps, P.
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<strong>Absence of deletion at the SOX2 locus in a case of microphthalmia and esophageal atresia. (Letter)</strong>
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Am. J. Med. Genet. 131A: 204 only, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15487011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15487011</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15487011" 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.30180" target="_blank">Full Text</a>]
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Chassaing, N., Gilbert-Dussardier, B., Nicot, F., Fermeaux, V., Encha-Razavi, F., Fiorenza, M., Toutain, A., Calvas, P.
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<strong>Germinal mosaicism and familial recurrence of a SOX2 mutation with highly variable phenotypic expression extending from AEG syndrome to absence of ocular involvement.</strong>
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Am. J. Med. Genet. 143A: 289-291, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17219395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17219395</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17219395" 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.31524" target="_blank">Full Text</a>]
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Chitayat, D., Babul, R., Silver, M. M., Jay, V., Teshima, I. E., Babyn, P., Becker, L. E.
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[<a href="https://doi.org/10.1002/(SICI)1096-8628(19960102)61:1<45::AID-AJMG9>3.0.CO;2-W" target="_blank">Full Text</a>]
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Driggers, R. W., Macri, C. J., Greenwald, J., Carpenter, D., Avallone, J., Howard-Peebles, P. N., Levin, S. W.
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<strong>Isolated bilateral anophthalmia in a girl with an apparently balanced de novo translocation: 46,XX,t(3;11)(q27;p11.2).</strong>
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Am. J. Med. Genet. 87: 201-202, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10564870/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10564870</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10564870" 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/(sici)1096-8628(19991126)87:3<201::aid-ajmg1>3.0.co;2-h" target="_blank">Full Text</a>]
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Faivre, L., Williamson, K. A., Faber, V., Laurent, N., Grimaldi, M., Thauvin-Robinet, C., Durand, C., Mugneret, F., Gouyon, J.-B., Bron, A., Huet, F., Hayward, C., van Heyningen, V., FitzPatrick, D. R.
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<strong>Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother. (Letter)</strong>
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Am. J. Med. Genet. 140A: 636-639, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16470798/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16470798</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16470798" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng1120" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.30803" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.30282" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(sici)1096-8628(19991119)87:2<180::aid-ajmg10>3.0.co;2-m" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI28658" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.20098" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.30283" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.33556" target="_blank">Full Text</a>]
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Sandler, D., Mancuso, A., Becker, T., Zori, R., Hellrung, J., Silverstein, J., Burton, V., Hamosh, A., Williams, C.
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<strong>Association of anophthalmia and esophageal atresia.</strong>
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Am. J. Med. Genet. 59: 484-491, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8585569/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8585569</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8585569" 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.1320590415" target="_blank">Full Text</a>]
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</p>
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<a id="27" class="mim-anchor"></a>
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<a id="Schneider2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schneider, A., Bardakjian, T. M., Zhou, J., Hughes, N., Keep, R., Dorsainville, D., Kherani, F., Katowitz, J., Schimmenti, L. A., Hummel, M., FitzPatrick, D. R., Young, T. L.
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<strong>Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters.</strong>
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Am. J. Med. Genet. 146A: 2794-2798, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18831064/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18831064</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18831064[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=18831064" 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.32384" target="_blank">Full Text</a>]
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</p>
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<a id="28" class="mim-anchor"></a>
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<a id="Schneider2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schneider, A., Bardakjian, T., Reis, L. M., Tyler, R. C., Semina, E. V.
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<strong>Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia.</strong>
|
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Am. J. Med. Genet. 149A: 2706-2715, 2009. Note: Erratum: Am. J. Med. Genet. 158A: 267 only, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19921648/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19921648</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19921648[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=19921648" 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.33098" target="_blank">Full Text</a>]
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<a id="29" class="mim-anchor"></a>
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<a id="Shah1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shah, D., Jones, R., Porter, H., Turnpenny, P.
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<strong>Bilateral microphthalmia, esophageal atresia, and cryptorchidism: the anophthalmia-esophageal-genital syndrome.</strong>
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Am. J. Med. Genet. 70: 171-173, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9128938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9128938</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9128938" 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/(sici)1096-8628(19970516)70:2<171::aid-ajmg13>3.0.co;2-g" target="_blank">Full Text</a>]
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<a id="30" class="mim-anchor"></a>
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<a id="Smartt2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Smartt, J. M., Jr., Kherani, F., Saddiqi, F., Katowitz, J. A., Bartlett, S. P.
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<strong>Microphthalmia and synostotic frontal plagiocephaly: a rare clinical entity with implications for craniofacial reconstruction.</strong>
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Plast. Reconstr. Surg. 116: 1e-9e, 2005. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15988238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15988238</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15988238" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1097/01.prs.0000169706.29344.e4" target="_blank">Full Text</a>]
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<a id="31" class="mim-anchor"></a>
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<a id="Stark2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stark, Z., Storen, R., Bennetts, B., Savarirayan, R., Jamieson, R. V.
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<strong>Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring.</strong>
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Europ. J. Hum. Genet. 19: 753-756, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21326281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21326281</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21326281" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ejhg.2011.11" target="_blank">Full Text</a>]
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<a id="32" class="mim-anchor"></a>
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<a id="Ulman1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ulman, I., Herek, O., Genc, A. K., Erdener, A.
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<strong>Microphthalmos associated with esophageal atresia.</strong>
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J. Pediat. Surg. 31: 433-434, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8708919/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8708919</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8708919" 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/s0022-3468(96)90754-x" target="_blank">Full Text</a>]
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<a id="33" class="mim-anchor"></a>
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<a id="Williamson2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Williamson, K. A., Hever, A. M., Rainger, J., Rogers, R. C., Magee, A., Fiedler, Z., Keng, W. T., Sharkey, F. H., McGill, N., Hill, C. J., Schneider, A., Messina, M., Turnpenny, P. D., Fantes, J. A., van Heyningen, V., FitzPatrick, D. R.
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<strong>Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.</strong>
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Hum. Molec. Genet. 15: 1413-1422, 2006. Note: Erratum: Hum. Molec. Genet. 15: 2030 only, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16543359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16543359</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16543359" 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/10.1093/hmg/ddl064" target="_blank">Full Text</a>]
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<a id="34" class="mim-anchor"></a>
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<a id="Zenteno2005" class="mim-anchor"></a>
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<p class="mim-text-font">
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Zenteno, J. C., Gascon-Guzman, G., Tovilla-Canales, J. L.
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<strong>Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene. (Letter)</strong>
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Clin. Genet. 68: 564-566, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16283891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16283891</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16283891" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2005.00518.x" target="_blank">Full Text</a>]
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<a id="35" class="mim-anchor"></a>
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<a id="Zenteno2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zenteno, J. C., Perez-Cano, H. J., Aguinaga, M.
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<strong>Anophthalmia-esophageal atresia syndrome caused by an (sic) SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes.</strong>
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Am. J. Med. Genet. 140A: 1899-1903, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16892407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16892407</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16892407" 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.31384" target="_blank">Full Text</a>]
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</ol>
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<br />
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</div>
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<a id="contributors" class="mim-anchor"></a>
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 11/21/2012
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</span>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 11/20/2012<br>Marla J. F. O'Neill - updated : 6/12/2012<br>Marla J. F. O'Neill - updated : 9/22/2011<br>Marla J. F. O'Neill - updated : 4/15/2011<br>Marla J. F. O'Neill - updated : 8/31/2009<br>Marla J. F. O'Neill - updated : 7/2/2007<br>Marla J. F. O'Neill - updated : 1/19/2007<br>Marla J. F. O'Neill - updated : 10/25/2006<br>Victor A. McKusick - updated : 9/13/2006<br>Marla J. F. O'Neill - updated : 6/20/2006<br>Marla J. F. O'Neill - updated : 4/26/2006<br>Marla J. F. O'Neill - updated : 4/25/2006<br>Marla J. F. O'Neill - updated : 11/7/2005<br>Marla J. F. O'Neill - updated : 5/23/2005<br>Victor A. McKusick - updated : 3/19/2003
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</span>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/3/1986
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<span class="mim-text-font">
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carol : 12/10/2024
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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alopez : 11/09/2022<br>carol : 06/17/2019<br>alopez : 06/14/2019<br>mcolton : 08/07/2015<br>carol : 2/26/2014<br>mcolton : 2/26/2014<br>carol : 11/21/2012<br>terry : 11/21/2012<br>alopez : 11/20/2012<br>terry : 11/20/2012<br>alopez : 6/13/2012<br>terry : 6/12/2012<br>terry : 6/12/2012<br>carol : 9/23/2011<br>terry : 9/22/2011<br>wwang : 4/19/2011<br>terry : 4/15/2011<br>carol : 9/2/2009<br>terry : 8/31/2009<br>carol : 12/30/2008<br>alopez : 12/29/2008<br>wwang : 7/6/2007<br>terry : 7/2/2007<br>carol : 1/22/2007<br>terry : 1/19/2007<br>wwang : 10/26/2006<br>wwang : 10/26/2006<br>terry : 10/25/2006<br>terry : 9/13/2006<br>wwang : 6/22/2006<br>terry : 6/20/2006<br>carol : 6/1/2006<br>carol : 5/3/2006<br>carol : 4/26/2006<br>carol : 4/25/2006<br>carol : 4/25/2006<br>wwang : 11/7/2005<br>wwang : 10/31/2005<br>wwang : 5/31/2005<br>terry : 5/23/2005<br>alopez : 4/2/2003<br>alopez : 3/21/2003<br>alopez : 3/21/2003<br>terry : 3/19/2003<br>mimadm : 11/12/1995<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989<br>marie : 3/25/1988<br>reenie : 10/18/1986
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<span class="mim-font">
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<strong>#</strong> 206900
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<div>
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<h3>
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<span class="mim-font">
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MICROPHTHALMIA, SYNDROMIC 3; MCOPS3
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME<br />
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ANOPHTHALMIA, CLINICAL, WITH ASSOCIATED ANOMALIES<br />
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ANOPHTHALMIA-ESOPHAGEAL-GENITAL SYNDROME<br />
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AEG SYNDROME
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</span>
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</h4>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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<span class="h3 mim-font">
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OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, INCLUDED
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<br />
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 698851003;
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<strong>ORPHA:</strong> 77298;
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<strong>DO:</strong> 0111801;
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</span>
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</p>
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<div>
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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 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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3q26.33
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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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Microphthalmia, syndromic 3
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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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206900
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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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Autosomal dominant
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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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3
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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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SOX2
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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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184429
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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3q26.33
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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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Optic nerve hypoplasia and abnormalities of the central nervous system
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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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206900
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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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Autosomal dominant
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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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3
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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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SOX2
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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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184429
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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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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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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 syndromic microphthalmia-3 (MCOPS3) is caused by heterozygous mutation in the SOX2 gene (184429) on chromosome 3q26.</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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<h4>
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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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<span class="mim-text-font">
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<p>Syndromic microphthalmia-3 (MCOPS3) is characterized by clinical anophthalmia or microphthalmia with or without defects of the optic nerve, optic chiasm, and optic tract. Extraocular abnormalities include brain anomalies, seizures, motor disability, neurocognitive delays, sensorineural hearing loss, and esophageal atresia. Hypoplasia of the anterior pituitary is another major complication, which frequently results in growth hormone deficiency; however, gonadotropin deficiency is likely to be the most consistent endocrinopathy in patients with SOX2 mutation (summary by Numakura et al., 2010). </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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<h4>
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<span class="mim-font">
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<strong>Nomenclature</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The term 'anophthalmia' has been misused in the medical literature. True or primary anophthalmia is rarely compatible with life; in such cases, the primary optic vesicle has stopped developing and the abnormal development involves major defects in the brain as well (Francois, 1961). The diagnosis can only be made histologically (Reddy et al., 2003; Morini et al., 2005; Smartt et al., 2005), but this is rarely done. In most published cases, the term 'anophthalmia' is used as a synonym for the more appropriate terms 'extreme microphthalmia' or 'clinical anophthalmia.' </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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<h4>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Rogers (1988) reported an 11-month-old male infant with bilateral clinical anophthalmia, esophageal atresia with tracheoesophageal fistula, and glanular hypospadias. The patient was noted to have normal intellectual development but delayed motor development. Arroyo et al. (1992) reported a male infant with bilateral clinical anophthalmia and esophageal atresia who had no other pathologic findings except for right cryptorchidism with normal scrotum and penis. The authors believed that this represented a second case of the disorder described by Rogers (1988). </p><p>Sandler et al. (1995) reported a boy and a girl from unrelated families with bilateral anophthalmia and proximal esophageal atresia. In addition to vestigial optic nerves and chiasma, MRI studies showed other central nervous system abnormalities: one had ectopic tissue in the hypothalamic region and the other had generalized ventriculomegaly associated with atrophy. Sandler et al. (1995) concluded that these defects represent a nonrandom concurrence. </p><p>Ulman et al. (1996) reported a boy with esophageal atresia, tracheoesophageal fistula, unilateral microphthalmia, and glanular hypospadias. </p><p>Shah et al. (1997) reported a male infant with bilateral microphthalmia, esophageal atresia with distal tracheoesophageal fistula, micropenis, and cryptorchidism. Other features included low-set posteriorly angulated ears with simple flat pinnae, right facial palsy, and hockey-stick palmar creases. CT scan revealed cavum septi pellucidi and extensive low attenuation of white matter bilaterally, suggesting leukomalacia. The patient was treated palliatively and died at day 8; autopsy revealed an absent gallbladder, extensive bilateral periventricular leukomalacia, olfactory aplasia, and multiple cerebellar cortical heterotopia. Shah et al. (1997) suggested the name 'anophthalmia-esophageal-genital syndrome' (AEG syndrome) for this disorder. </p><p>Imaizumi et al. (1999) reported 2 male patients with unilateral microphthalmia and esophageal atresia. Mild psychomotor delay and severe bilateral hearing loss were present in 1 patient; the other had T4-S hemivertebrae and 11 ribs on the left side. The authors concluded that these cases provide further support for recognizing this association as a distinct syndrome. </p><p>Menetrey et al. (2002) reported a newborn female with bilateral anophthalmia and esophageal atresia, who died shortly after birth. They stated that this was the seventh reported case of this syndrome and noted that all cases had been sporadic. </p><p>Messina et al. (2003) reported a male infant with left microphthalmia, esophageal atresia, and marked hypoplasia of the entire left half of the body. A chorioretinal coloboma was noted in the right eye; on CT scan, there was diffuse hypodensity of the white matter of both hemispheres. </p><p>Petrackova et al. (2004) reported a male infant with bilateral clinical anophthalmia and esophageal atresia with distal tracheoesophageal fistula. He had normal genitals, duplication of the left kidney, and significant psychomotor delay. </p><p>Bonneau et al. (2004) reported the eleventh case of anophthalmia/microphthalmia and esophageal atresia (AMEA). In her neonatal period, the proband had been operated on for type III esophageal atresia. At the age of 6 years, she received an ocular prosthesis for colobomatous microphthalmia of the right eye. The left eye was normal. No deletion of the SOX2 locus (184429), which had been implicated in anophthalmia/microphthalmia, was found; a search for SOX2 mutations was not performed. </p><p>Bardakjian and Schneider (2005) reported 3 unrelated boys and an unrelated girl with clinical anophthalmia/microphthalmia and esophageal atresia. All 3 boys had genital anomalies involving hypospadias and cryptorchidism, and 2 also had cardiac anomalies: 1 had a large ventricular septal defect and the other, patent ductus arteriosus and a patent foramen ovale. One boy had holoprosencephaly with marked dilation of the ventricles seen on head CT. Three of the 4 patients also had vertebral anomalies: 1 boy had underdeveloped vertebrae; a second boy had 2 ossified ribs on the right and 11 on the left and multiple vertebral anomalies between T3 and T8, including 2 hemivertebrae; and the girl had cervical hemivertebrae and T1-T7 hemivertebrae as well as 13 ribs. Although 1 patient was developmentally delayed, another had been valedictorian in high school and was attending college. Bardakjian and Schneider (2005) suggested that because the association of anophthalmia/microphthalmia and esophageal atresia is so rare and most cases have associated anomalies of the CNS, genitalia, and vertebrae as well as other systems, the entity might be better described as anophthalmia/microphthalmia and esophageal atresia with other associated malformations. </p><p>Hill et al. (2005) reported a female infant with right-sided clinical anophthalmia, esophageal atresia and tracheoesophageal fistula, and vertebral anomalies, including a T6 hemivertebra, T5 butterfly vertebra, fusion of the posterolateral third and fourth ribs, and fusion of S3 to S5 on the left sacrum. She had low-set ears with a slightly simple ear on the right, her fourth and fifth fingers overlapped the third fingers, and she had a right single palmar crease. </p><p>Morini et al. (2005) reported a female infant with pure esophageal atresia without tracheoesophageal fistula, bilateral clinical anophthalmia, and a patent ductus arteriosus. Microcephaly and mild developmental retardation were also observed. </p><p>Ragge et al. (2005) described the clinical features of 5 patients reported by Fantes et al. (2003) and 4 additional patients with bilateral clinical anophthalmia/microphthalmia. Extraocular features included mild facial dysmorphism, seizure disorder, global developmental delay, mesial temporal brain malformations, disordered muscle tone with evidence of mild basal ganglia dysfunction, growth failure, and male genital tract abnormalities. The authors noted that the neurologic features were relatively consistent but highly variable in severity. </p><p>Pedace et al. (2009) reported a 6-month-old Italian boy with clinical anophthalmia and severe microphthalmia of the right and left eyes, respectively, associated with micropenis. Ophthalmic examination confirmed the clinical anophthalmia/microphthalmia as well as congenital cataract; in addition, the patient had a depressed and widened nasal bridge and frontal bossing. Penile length was 2 cm, with normally descended testes. Brain MRI revealed that the right globe was virtually absent, whereas the left one was reduced in size with coloboma of the optic nerve. The hypothalamic-pituitary axis appeared normal, but there was bilateral dilatation of the temporal horns and hypoplasia of the hippocampus. Repeated endocrinologic evaluation and brain MRI in this patient did not reveal any morphologic or functional anomaly of the hypothalamic-pituitary axis. </p><p>Numakura et al. (2010) studied a 21-year-old Japanese man who had bilateral clinical anophthalmia, midface hypoplasia with a patulous lower lip, hypogonadotropic hypogonadism, seizures, spastic diplegia, and intellectual disability. Brain MRI showed a defect of the septum pellucidum and absence of the optic nerve, chiasm, and optic tract. In addition, the patient had difficulty with mastication, and mobility of the mandibular incisors as well as bilateral maxillary and mandibular deciduous molars were observed. Panoramic radiography revealed 9 unerupted teeth, including 5 premolars showing delayed eruption and 4 supernumerary impacted teeth. Noting that multiple supernumerary teeth are rare and usually associated with congenital malformation syndromes, Numakura et al. (2010) concluded that the supernumerary teeth in this patient were likely to be a manifestation of the SOX2 anophthalmia syndrome. </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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<h4>
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<span class="mim-font">
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<strong>Cytogenetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In a female infant with had bilateral clinical anophthalmia, congenital heart disease, and abnormal genitalia who died 45 hours after delivery, Chitayat et al. (1996) identified a terminal deletion of the long arm of chromosome 3 involving 3q27-qter. </p><p>In a female infant with bilateral clinical anophthalmia and a patent foramen ovale or small atrial septal defect on echocardiogram, and a male infant who was large for gestational age and had mild hypertelorism, severe bilateral microphthalmia, bilateral large colobomatous cysts, severe optic nerve hypoplasia, and bilateral sensorineural hearing loss, Driggers et al. (1999) and Kurbasic et al. (2000), respectively, reported de novo apparently balanced reciprocal translocations involving 3q27. </p><p>In 2 unrelated infants with clinical anophthalmia and microphthalmia who had constitutional deletions involving 3q27, Male et al. (2002) identified a 6.7-Mb minimum deleted region common to both patients at 3q26.33-q28. The male infant, who died at 40 days of age from respiratory failure, had multiple abnormalities including bilateral clinical anophthalmia, abnormalities of the first and second cranial nerves, partial absence of the corpus callosum, cleft palate and laryngeal cleft, 13 pairs of ribs, cleft odontoid peg, small penis with hypoplastic scrotum, and bilateral cryptorchidism. The female infant had right clinical anophthalmia and left microphthalmia. Both patients had intrauterine growth retardation with microcephaly and had strikingly similar dysmorphic facies consisting of bossed forehead, downward-slanting palpebral fissures, grooved bridge of the nose, prominent low-set ears, small downturned mouth, and small mandible. </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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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The heterozygous mutations in the SOX2 gene that were identified in patients with MCOPS3 by Driggers et al. (1999) occurred de novo. </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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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In the female infant reported by Driggers et al. (1999) with bilateral clinical anophthalmia and a de novo t(3;11)(q27;p11.2), Fantes et al. (2003) identified a submicroscopic deletion at the 3q breakpoint, containing the SOX2 gene. By subsequent SOX2 mutation analysis in 102 individuals with microphthalmia, clinical anophthalmia, or coloboma, they identified 3 heterozygous de novo truncating mutations in the SOX2 gene (184429.0001-184429.0003) in 4 unrelated individuals, 2 with bilateral clinical anophthalmia and 2 with unilateral clinical anophthalmia and contralateral microphthalmia. All 4 patients had associated extraocular abnormalities, including male genital tract abnormalities, myopathy, and spastic diplegia. </p><p>In 4 patients with bilateral clinical anophthalmia/microphthalmia, Ragge et al. (2005) identified heterozygous de novo mutations in the SOX2 gene, including a missense mutation (184429.0004) and 3 frameshift mutations. </p><p>In a 12-year-old girl with bilateral clinical anophthalmia and aplasia of the optic nerve, chiasm, and optic tracts, Hagstrom et al. (2005) identified heterozygosity for a de novo nonsense mutation in the SOX2 gene (184429.0005). The patient also had mild bilateral sensorineural hearing loss and global developmental delay. </p><p>In an 11-month-old Mexican girl with bilateral clinical anophthalmia, mild facial dysmorphism, and developmental delay, Zenteno et al. (2005) identified heterozygosity for a 20-bp deletion in the SOX2 gene (70del20; 184429.0010). The patient had frontal bossing and a broad nasal root, as well as congenital left hip dislocation. Orbital and brain CT scan demonstrated absence of eye globes, rudimentary optic nerves, partial agenesis of the corpus callosum, and marked cystic dilation of the third ventricle due to a suprasellar cyst. </p><p>Williamson et al. (2006) identified heterozygous loss-of-function mutations in the SOX2 gene (184429.0006-184429.0008) in 3 unrelated patients with microphthalmia and esophageal atresia: 1 was the original patient reported by Rogers (1988); another was the male infant described by Petrackova et al. (2004); and the third was a new case, a female infant with extreme bilateral microphthalmia, severe blepharophimosis, and esophageal atresia with distal tracheoesophageal fistula. </p><p>In a female infant with bilateral clinical anophthalmos, very narrow palpebral fissures with synechiae, microcephaly, and psychomotor retardation, Faivre et al. (2006) identified heterozygosity for a missense mutation in the SOX2 gene (184429.0009). Cerebral MRI revealed a normal corpus callosum, ventricular diameter, and gray and white matter; ocular MRI showed empty orbits except for the presence of intraorbital muscles, and the optic nerve and chiasm could not be visualized. At 1 year of age, the patient could not sit unaided and expressed no sounds. Her unaffected mother was also found to be heterozygous for the mutation; restriction enzyme digestion products were always lower in the mother than the proband, consistent with a lower level of mutant allele in the mother due to somatic mosaicism. An earlier pregnancy had been terminated at 17 weeks' gestation due to severe hydrocephaly; the fetus was found to have a significantly increased occipitofrontal circumference, left cryptophthalmos and bilateral clinical anophthalmos, major dilation of the lateral and third ventricles with hypoplastic white matter and optic nerve agenesis, absence of the corpus callosum, and minor hypoplasia of the inferior cerebellar vermis. </p><p>Zenteno et al. (2006) described male monozygotic twin infants with esophageal atresia and a discordant ocular phenotype in whom they identified heterozygosity for the 70del20 mutation in the SOX2 gene. One twin had an irregular skull, facial asymmetry, left clinical anophthalmia, flat nasal bridge, retrognathia, low-set ears, bilateral cryptorchidism, and tracheoesophageal fistula. The other twin had normal ocular globes, narrowing of the right palpebral fissure, flat nasal bridge, normal genitalia, and tracheoesophageal fistula. Zenteno et al. (2006) stated that this was the first reported case of SOX2 mutation causing a unilateral eye defect and the first example of monozygotic twins discordant for anophthalmia. </p><p>Kelberman et al. (2006) screened 235 probands with congenital hypothalamo-pituitary disorders for mutations in the SOX2 gene and identified 6 patients with clinical anophthalmia or microphthalmia who had heterozygous de novo mutations (see, e.g., 184429.0001 and 184429.0010) and 2 patients with bilateral optic nerve hypoplasia who had heterozygous inherited mutations (see 184429.0012 and 184429.0013). One of the patients was a 13-year-old girl with bilateral clinical anophthalmia and a history of esophageal atresia who had previously been reported by Morini et al. (2005); she was found to be heterozygous for a 1-bp insertion in the SOX2 gene (184429.0011). In addition to bilateral eye defects, all patients with SOX2 mutations had various associated anomalies, including anterior pituitary hypoplasia and hypogonadotropic hypogonadism, variable defects affecting the corpus callosum and mesial temporal structures, hypothalamic hamartoma, learning difficulties, sensorineural hearing loss, and esophageal atresia. </p><p>In 2 female sibs, 1 of whom was previously reported by Menetrey et al. (2002), Chassaing et al. (2007) identified heterozygosity for a 17-bp deletion in the SOX2 gene (184429.0014). The first sib had bilateral anophthalmia and esophageal atresia and died shortly after birth. During the mother's subsequent pregnancy, the fetus showed severe and progressive triventricular hydrocephalus on ultrasound, and the pregnancy was interrupted. Autopsy showed stenosis of the Sylvian aqueduct, hypoplasia of the corpus callosum, and 11 rib pairs, but normal external ocular examination and gestational age-appropriate ocular length. Extensive microscopic examination revealed no subtle anomaly of the ocular structures. The mother was found to have germinal mosaicism for the mutation, estimated at approximately 3%. Chassaing et al. (2007) concluded that SOX2 haploinsufficiency can cause a variable ocular phenotype ranging from normal eyes to anophthalmia. </p><p>In 2 sisters with bilateral clinical anophthalmia/microphthalmia and brain anomalies, Schneider et al. (2008) identified heterozygosity for a 1-bp deletion in the SOX2 gene (184429.0015). The younger sister's development was more advanced than her older sib at the same age, showing that differences in development can occur in sibs with the same SOX2 mutation. The younger sister also had hypothyroidism, which had not previously been reported in MCOPS3. The unaffected mother, who had 2 healthy older children, was found to have a reduced signal for the deletion in peripheral blood and buccal cell DNA, confirming somatic mosaicism; the mutation was not found in the maternal grandparents. Schneider et al. (2008) noted that this was the third report of a family in which an unaffected mosaic mother transmitted bilateral clinical anophthalmia to 2 female offspring (see Faivre et al., 2006 and Chassaing et al., 2007). </p><p>In a 6-month-old Italian boy with clinical anophthalmia and severe microphthalmia of the right and left eyes, respectively, associated with micropenis, Pedace et al. (2009) analyzed the SOX2 gene and identified heterozygosity for a 2-bp insertion (184429.0016). The mutation was not detected in the patient's unaffected second-cousin parents or in his unaffected dizygotic twin, and was not found in 200 control chromosomes. </p><p>In a 21-year-old Japanese man with bilateral clinical anophthalmia, hypogonadotropic hypogonadism, seizures, spastic diplegia, and intellectual disability, who was negative for mutation in the HESX1 gene (601802), Numakura et al. (2010) identified heterozygosity for a nonsense mutation in SOX2 (184429.0017). The patient also had a dental anomaly, consisting of multiple supernumerary impacted teeth and persistence of deciduous teeth. Although the role of SOX2 in dental development was as yet unknown, the authors considered the supernumerary teeth to be an extraocular symptom of the SOX2 anophthalmia syndrome. </p><p>Alatzoglou et al. (2011) reported 2 unrelated patients with bilateral clinical anophthalmia and nonprogressive pituitary tumors of early onset associated with SOX2 haploinsufficiency, due to heterozygosity for a 731-kb deletion on chromosome 3q26 encompassing SOX2 in 1 patient and a SOX2 nonsense mutation (F48X; 184429.0018) in the other. Alatzoglou et al. (2011) stated that this was the first time that SOX2 haploinsufficiency had been implicated in the generation of pituitary tumors. The patient with the deletion was born with bilateral clinical anophthalmia and had severely impaired language development and delayed motor milestones. She presented at 18 years of age with pubertal delay and was Tanner stage I with short stature on examination; endocrine evaluation revealed undetectable estradiol with low basal gonadotropins and flat luteinizing hormone (LH; 152780) and follicle-stimulating hormone (FSH: 136530) responses to GnRH (152760) stimulation, consistent with a diagnosis of hypogonadotropic hypogonadism. MRI revealed a sellar tumor with a cystic component, extending into the suprasellar area, with no evidence of compression syndrome. Hormone replacement therapy was declined, and at 24 years of age the patient developed spontaneous but incomplete puberty (breast Tanner stage 2). Repeat MRI at that time as well as sequential MR imaging over a 10-year period showed no significant change in size or morphology of the tumor, and there was no evidence of development of additional pituitary hormone deficiencies. </p><p>In an 8-year-old boy with bilateral clinical anophthalmia and endocrinologic abnormalities and his 8-month-old sister who had unilateral microphthalmia and retinal coloboma, Stark et al. (2011) identified heterozygosity for a 1-bp deletion in the SOX2 gene (184429.0019). Their mother, who was diagnosed with isolated hypogonadotropic hypogonadism (see 147950) and had undergone assisted reproduction to achieve fertility, was also heterozygous for the deletion. She had no dysmorphic features and a normal sense of smell, and ophthalmologic examination was normal. Sequencing results in the mother suggested possible mosaicism. </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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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Schneider et al. (2009) screened the SOX2 gene in 51 unrelated patients with clinical anophthalmia and/or microphthalmia and identified heterozygous SOX2 mutations in 10 of them, including 3 patients with the recurrent 20-bp deletion (70del20; 184429.0010). Analysis of all reported patients with SOX2 mutations suggested a potential genotype/phenotype correlation, with missense changes generally resulting in less severe ocular defects. </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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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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Stark, Z., Storen, R., Bennetts, B., Savarirayan, R., Jamieson, R. V.
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<strong>Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspring.</strong>
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Europ. J. Hum. Genet. 19: 753-756, 2011.
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[PubMed: 21326281]
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[Full Text: https://doi.org/10.1038/ejhg.2011.11]
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Ulman, I., Herek, O., Genc, A. K., Erdener, A.
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<strong>Microphthalmos associated with esophageal atresia.</strong>
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J. Pediat. Surg. 31: 433-434, 1996.
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[PubMed: 8708919]
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[Full Text: https://doi.org/10.1016/s0022-3468(96)90754-x]
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Williamson, K. A., Hever, A. M., Rainger, J., Rogers, R. C., Magee, A., Fiedler, Z., Keng, W. T., Sharkey, F. H., McGill, N., Hill, C. J., Schneider, A., Messina, M., Turnpenny, P. D., Fantes, J. A., van Heyningen, V., FitzPatrick, D. R.
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<strong>Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.</strong>
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Hum. Molec. Genet. 15: 1413-1422, 2006. Note: Erratum: Hum. Molec. Genet. 15: 2030 only, 2006.
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[PubMed: 16543359]
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[Full Text: https://doi.org/10.1093/hmg/ddl064]
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Zenteno, J. C., Gascon-Guzman, G., Tovilla-Canales, J. L.
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<strong>Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene. (Letter)</strong>
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Clin. Genet. 68: 564-566, 2005.
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[PubMed: 16283891]
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[Full Text: https://doi.org/10.1111/j.1399-0004.2005.00518.x]
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Zenteno, J. C., Perez-Cano, H. J., Aguinaga, M.
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<strong>Anophthalmia-esophageal atresia syndrome caused by an (sic) SOX2 gene deletion in monozygotic twin brothers with markedly discordant phenotypes.</strong>
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Am. J. Med. Genet. 140A: 1899-1903, 2006.
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[PubMed: 16892407]
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[Full Text: https://doi.org/10.1002/ajmg.a.31384]
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Marla J. F. O'Neill - updated : 11/21/2012<br>Marla J. F. O'Neill - updated : 11/20/2012<br>Marla J. F. O'Neill - updated : 6/12/2012<br>Marla J. F. O'Neill - updated : 9/22/2011<br>Marla J. F. O'Neill - updated : 4/15/2011<br>Marla J. F. O'Neill - updated : 8/31/2009<br>Marla J. F. O'Neill - updated : 7/2/2007<br>Marla J. F. O'Neill - updated : 1/19/2007<br>Marla J. F. O'Neill - updated : 10/25/2006<br>Victor A. McKusick - updated : 9/13/2006<br>Marla J. F. O'Neill - updated : 6/20/2006<br>Marla J. F. O'Neill - updated : 4/26/2006<br>Marla J. F. O'Neill - updated : 4/25/2006<br>Marla J. F. O'Neill - updated : 11/7/2005<br>Marla J. F. O'Neill - updated : 5/23/2005<br>Victor A. McKusick - updated : 3/19/2003
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Victor A. McKusick : 6/3/1986
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