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Entry
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- #300000 - OPITZ GBBB SYNDROME; GBBB
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- OMIM
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<span class="h4">#300000</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/300000"><strong>Clinical Synopsis</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="#pathogenesis">Pathogenesis</a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#diagnosis">Diagnosis</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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<li role="presentation" style="margin-left: 1em">
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<a href="#history">History</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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</div>
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</a>
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</h4>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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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="mimClinicalResources">
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<span class="panel-title">
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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>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=OPITZ GBBB SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=3423&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/NBK1327/" 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://medlineplus.gov/genetics/condition/opitz-g-bbb-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=300000[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=2745" 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/d2d7b5a0-84da-44d4-9ab0-0ef9c44bd37d/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 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:0080697" 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/300000" 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:0080697" 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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</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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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 81771002<br />
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<strong>ORPHA:</strong> 2745<br />
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<strong>DO:</strong> 0080697<br />
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">ICD+</a>
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</div>
|
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<div>
|
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<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
|
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<span class="text-danger"><strong>#</strong></span>
|
|
300000
|
|
</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>
|
|
<span class="mim-font">
|
|
|
|
OPITZ GBBB SYNDROME; GBBB
|
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</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
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<br />
|
|
</div>
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<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
|
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<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
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</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
OPITZ GBBB SYNDROME, X-LINKED<br />
|
|
OPITZ SYNDROME; OS<br />
|
|
OPITZ SYNDROME, X-LINKED; OSX<br />
|
|
HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS<br />
|
|
HYPERTELORISM-HYPOSPADIAS SYNDROME<br />
|
|
TELECANTHUS-HYPOSPADIAS SYNDROME<br />
|
|
OPITZ GBBB SYNDROME, TYPE I, FORMERLY; GBBB1, FORMERLY<br />
|
|
OPITZ-G SYNDROME, TYPE I, FORMERLY; OGS1, FORMERLY<br />
|
|
OPITZ BBBG SYNDROME, TYPE I, FORMERLY; BBBG1, FORMERLY
|
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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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<div>
|
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<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
|
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</th>
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<th>
|
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Phenotype <br /> MIM number
|
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</th>
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<th>
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Inheritance
|
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</th>
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<th>
|
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Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/54?start=-3&limit=10&highlight=54">
|
|
Xp22.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Opitz GBBB syndrome
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300000"> 300000 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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">
|
|
MID1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300552"> 300552 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/300000" 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">
|
|
<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/300000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/300000" 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">
|
|
|
|
- X-linked recessive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845977&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845977</a>, <a href="https://bioportal.bioontology.org/search?q=C1279481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279481</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Prominent forehead <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837260</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011220" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011220</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011220" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011220</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=a2091161c29564b62e12b608022a4044" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Forehead,Prominent-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=a2091161c29564b62e12b608022a4044" 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 /> -
|
|
Flat philtrum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1142533&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1142533</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000319</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000319</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=64d497514ce8c2250bd637c9cb83892d" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Philtrum,Smooth-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=64d497514ce8c2250bd637c9cb83892d" 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> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypertelorism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22006008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020534</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Telecanthus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246803005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246803005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423113&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423113</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000506" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000506</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000506" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000506</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=d87370f552af271a3bb27b2e061542cb" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Telecanthus-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=d87370f552af271a3bb27b2e061542cb" 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> Nose </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Broad nasal bridge <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249321001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249321001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849367&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849367</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000431" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000431</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000431" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000431</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=3f6587f50506c9d70db0628b3fa5f2c5" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Nasal_Bridge,Wide-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=3f6587f50506c9d70db0628b3fa5f2c5" 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 /> -
|
|
Anteverted nares <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/708670007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">708670007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840077&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840077</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000463" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000463</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000463" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000463</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=656ef0aca7742d97c5769f51f0dd56de" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Nares,Anteverted-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=656ef0aca7742d97c5769f51f0dd56de" 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 /> -
|
|
Grooved nasal tip <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848388&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848388</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cleft lip <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80281008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80281008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q36" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q36</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q36.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q36.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0008924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008924</a>, <a href="https://bioportal.bioontology.org/search?q=C4321245&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4321245</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000204" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000204</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0410030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0410030</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0410030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0410030</a>]</span><br /> -
|
|
Cleft palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63567004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63567004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87979003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87979003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837218</a>, <a href="https://bioportal.bioontology.org/search?q=C2981150&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2981150</a>, <a href="https://bioportal.bioontology.org/search?q=C2240378&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2240378</a>, <a href="https://bioportal.bioontology.org/search?q=C0008925&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008925</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span><br /> -
|
|
High-arched palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27272007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27272007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q38.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q38.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240635</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span><br /> -
|
|
Thin upper lip <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865017&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865017</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000219" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000219</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000219" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000219</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> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Congenital heart defect <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13213009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13213009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q24.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q24.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/746.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">746.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018798&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018798</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001627" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001627</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001627" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001627</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>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nasopharynx </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Posterior pharyngeal cleft <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848389&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848389</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006783" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006783</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006783" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006783</a>]</span><br />
|
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|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Lung </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Aspiration <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413585005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413585005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14766002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14766002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/68052005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">68052005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/129316008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">129316008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278847003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278847003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349707&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349707</a>, <a href="https://bioportal.bioontology.org/search?q=C0700198&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700198</a>, <a href="https://bioportal.bioontology.org/search?q=C1720922&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1720922</a>, <a href="https://bioportal.bioontology.org/search?q=C2712334&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2712334</a>, <a href="https://bioportal.bioontology.org/search?q=C0220787&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0220787</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002835" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002835</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002835" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002835</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">
|
|
|
|
- Dysphagia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/288939007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">288939007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40739000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40739000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R13.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R13.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R13.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R13.10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/787.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/787.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011168&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011168</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002015</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002015</a>]</span><br /> -
|
|
Gastroesophageal reflux <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/235595009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">235595009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/722884003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">722884003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/698065002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">698065002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K21" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K21</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K21.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K21.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/530.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">530.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3813607&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3813607</a>, <a href="https://bioportal.bioontology.org/search?q=C4317146&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4317146</a>, <a href="https://bioportal.bioontology.org/search?q=C0017168&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017168</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002020" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002020</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002020" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002020</a>]</span><br /> -
|
|
Imperforate anus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204712000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204712000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q42.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q42.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003466&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003466</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002023</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002023</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 />
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</span>
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Internal Genitalia (Male) </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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- 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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<div>
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<div>
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<span class="h5 mim-font">
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<strong> SKIN, NAILS, & HAIR </strong>
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</span>
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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> Hair </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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- Widow's peak <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853486&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853486</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000349" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000349</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000349" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000349</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=28024f892946bdfe488ca2472e91f090" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Widows_Peak-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=28024f892946bdfe488ca2472e91f090" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
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</div>
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</div>
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<div>
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<span class="h5 mim-font">
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<strong> NEUROLOGIC </strong>
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</span>
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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> Central Nervous System </em>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Developmental delay <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248290002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248290002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/224958001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">224958001</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">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/315.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">315.9</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=C0424605&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424605</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 /> -
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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 />
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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">
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<strong> MOLECULAR BASIS </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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- Caused by mutations in the midline 1 gene (MID1, <a href="/entry/300552#0001">300552.0001</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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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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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that X-linked Opitz GBBB syndrome (GBBB) is caused by mutation in the MID1 gene (<a href="/entry/300552">300552</a>) on chromosome Xp22.</p>
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</span>
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<br />
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</div>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Opitz GBBB syndrome (GBBB) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects (<a href="#21" class="mim-tip-reference" title="So, J., Suckow, V., Kijas, Z., Kalscheuer, V., Moser, B., Winter, J., Baars, M., Firth, H., Lunt, P., Hamel, B., Meinecke, P., Moraine, C., and 14 others. <strong>Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.</strong> Am. J. Med. Genet. 132A: 1-7, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15558842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15558842</a>] [<a href="https://doi.org/10.1002/ajmg.a.30407" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15558842">So et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15558842" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
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<div>
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<a id="nomenclature" class="mim-anchor"></a>
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<h4 href="#mimNomenclatureFold" id="mimNomenclatureToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimNomenclatureToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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 id="mimNomenclatureFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p>Opitz GBBB syndrome was first reported as 2 separate entities, BBB syndrome and G syndrome; subsequent reports of families in which the BBB and G syndromes segregated within a single kindred suggested that they represent a single entity.</p><p>An autosomal dominant form of Opitz GBBB syndrome, designated GBBB2, was mapped to chromosome 22q11 (<a href="#19" class="mim-tip-reference" title="Robin, N. H., Feldman, G. J., Aronson, A. L., Mitchell, H. F., Weksberg, R., Leonard, C. O., Burton, B. K., Josephson, K. D., Laxova, R., Aleck, K. A., Allanson, J. E., Guion-Almeida, M. L., Martin, R. A., Leichtman, L. G., Price, R. A., Opitz, J. M., Muenke, M. <strong>Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2.</strong> Nature Genet. 11: 459-461, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7493033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7493033</a>] [<a href="https://doi.org/10.1038/ng1295-459" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7493033">Robin et al., 1995</a>). Later reports indicated that the disorder had features more similar to Teebi hypertelorism syndrome-1 (TBHS1; <a href="/entry/145420">145420</a>); both disorders were found to caused by mutation in the SPECC1L gene and are considered to be the same. The autosomal disorder is referred to in OMIM as TBHS1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7493033" 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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</span>
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<div>
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<br />
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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 id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#13" class="mim-tip-reference" title="Opitz, J. M., Frias, J. L., Gutenberger, J. E., Pellett, J. R. <strong>The G syndrome of multiple congenital anomalies.</strong> Birth Defects Orig. Art. Ser. V(2): 95-101, 1969."None>Opitz et al. (1969)</a> described 4 brothers with hypertelorism, a neuromuscular defect of the esophagus and swallowing mechanism, hoarse cry, hypospadias, cryptorchidism, bifid scrotum, and, in one, imperforate anus. Two other brothers had died of aspiration. The parents were not related. The mother, who was thought to have minor stigmata such as hypertelorism, had difficulty swallowing fluids until age 11 months when a lingual frenulum (also present in at least 1 of the affected sons) was resected. Four living sisters were well except for one with Usher syndrome (congenital deafness and retinitis pigmentosa) and one with swallowing difficulties like the mother. As was his practice, <a href="#13" class="mim-tip-reference" title="Opitz, J. M., Frias, J. L., Gutenberger, J. E., Pellett, J. R. <strong>The G syndrome of multiple congenital anomalies.</strong> Birth Defects Orig. Art. Ser. V(2): 95-101, 1969."None>Opitz et al. (1969)</a> designated the condition 'G syndrome' after the family in which he observed it.</p>
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<p><a href="#11" class="mim-tip-reference" title="Kasner, J., Gilbert, E. F., Viseskul, C., Deacon, J., Herrmann, J. P. R., Opitz, J. M. <strong>Studies of malformation syndromes. VII. The G syndrome.</strong> Z. Kinderheilk. 118: 81-86, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4440087/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4440087</a>] [<a href="https://doi.org/10.1007/BF00440023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4440087">Kasner et al. (1974)</a> described a lethally affected female born into the family originally reported by Opitz's group. <a href="#1" class="mim-tip-reference" title="Arya, S., Viseskul, C., Gilbert, E. F. <strong>The G syndrome--additional observations.</strong> Am. J. Med. Genet. 5: 321-324, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7405964/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7405964</a>] [<a href="https://doi.org/10.1002/ajmg.1320050316" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7405964">Arya et al. (1980)</a> reported the second lethal case in a female, the niece of the original G brothers. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4440087+7405964" 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="#19" class="mim-tip-reference" title="Robin, N. H., Feldman, G. J., Aronson, A. L., Mitchell, H. F., Weksberg, R., Leonard, C. O., Burton, B. K., Josephson, K. D., Laxova, R., Aleck, K. A., Allanson, J. E., Guion-Almeida, M. L., Martin, R. A., Leichtman, L. G., Price, R. A., Opitz, J. M., Muenke, M. <strong>Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2.</strong> Nature Genet. 11: 459-461, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7493033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7493033</a>] [<a href="https://doi.org/10.1038/ng1295-459" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7493033">Robin et al. (1995)</a> pictured an affected brother and sister from family 5 with X-linked GBBB; both had widely spaced eyes and the brother had repaired cleft lip and tracheotomy necessitated by a laryngotracheal cleft. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7493033" 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="#20" class="mim-tip-reference" title="Robin, N. H., Opitz, J. M., Muenke, M. <strong>Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature.</strong> Am. J. Med. Genet. 62: 305-317, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8882794/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8882794</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19960329)62:3<305::AID-AJMG20>3.0.CO;2-N" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8882794">Robin et al. (1996)</a> compared the phenotypic features of the X-linked and the formerly designated autosomal form of the Opitz GBBB syndrome, here called Teebi syndrome-1 (see <a href="/entry/145420">145420</a>). They found that anteverted nares and posterior pharyngeal cleft were seen only in the X-linked form. However, all other manifestations of the syndrome, such as hypertelorism, swallowing difficulties, hypospadias, and developmental delay, occurred in both. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8882794" 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>Monozygotic twinning, which is unusually frequent in families with GBBB, may be a manifestation of the defect; unusually severe cases with early lethality occur as twins (<a href="#16" class="mim-tip-reference" title="Opitz, J. M. <strong>Personal Communication.</strong> Helena, Mont. 2/25/1996."None>Opitz, 1996</a>).</p>
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<p><a href="#10" class="mim-tip-reference" title="Jacobson, Z., Glickstein, J., Hensle, T., Marion, R. W. <strong>Further delineation of the Opitz G/BBB syndrome: report of an infant with complex congenital heart disease and bladder exstrophy, and review of the literature.</strong> Am. J. Med. Genet. 78: 294-299, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9677070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9677070</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19980707)78:3<294::aid-ajmg18>3.0.co;2-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9677070">Jacobson et al. (1998)</a> reviewed the spectrum of congenital heart disease and genitourinary anomalies seen in Opitz syndrome. They reported an infant with this disorder and a combination of complex congenital heart disease (double outlet right ventricle with pulmonary atresia, malalignment ventriculoseptal defect, right-sided aortic arch with left ductus arteriosus) and bladder exstrophy. Neither of these defects had previously been reported in association with Opitz syndrome. Since both were midline defects, they further characterized Opitz syndrome as an impairment in midline development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9677070" 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="#2" class="mim-tip-reference" title="Brooks, J. K., Leonard, C. O., Zawadzki, J. K., Ommaya, A. K., Levy, B. A., Orenstein, J. M. <strong>Pituitary macroadenoma and cranial osteoma in a manifesting heterozygote with the Opitz G/BBB syndrome. (Letter)</strong> Am. J. Med. Genet. 80: 291-293, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9843057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9843057</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19981116)80:3<291::aid-ajmg23>3.0.co;2-r" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9843057">Brooks et al. (1998)</a> described pituitary macroadenoma and cranial osteoma in a 43-year-old woman, a mother of a boy with typical Opitz syndrome and herself a manifesting heterozygote. She had telecanthus, anteverted nares, and a history of frequent respiratory and urinary tract infections. Her son had hypertelorism, bilaterally cleft lip and palate, hypospadias, and dysphagia with multiple episodes of aspiration pneumonia. Linkage analysis had demonstrated X-linked inheritance in this family (<a href="#19" class="mim-tip-reference" title="Robin, N. H., Feldman, G. J., Aronson, A. L., Mitchell, H. F., Weksberg, R., Leonard, C. O., Burton, B. K., Josephson, K. D., Laxova, R., Aleck, K. A., Allanson, J. E., Guion-Almeida, M. L., Martin, R. A., Leichtman, L. G., Price, R. A., Opitz, J. M., Muenke, M. <strong>Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2.</strong> Nature Genet. 11: 459-461, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7493033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7493033</a>] [<a href="https://doi.org/10.1038/ng1295-459" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7493033">Robin et al., 1995</a>). <a href="#2" class="mim-tip-reference" title="Brooks, J. K., Leonard, C. O., Zawadzki, J. K., Ommaya, A. K., Levy, B. A., Orenstein, J. M. <strong>Pituitary macroadenoma and cranial osteoma in a manifesting heterozygote with the Opitz G/BBB syndrome. (Letter)</strong> Am. J. Med. Genet. 80: 291-293, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9843057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9843057</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19981116)80:3<291::aid-ajmg23>3.0.co;2-r" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9843057">Brooks et al. (1998)</a> concluded that cranial osteomas are not associated with growth hormone hypersecretion and that therefore cranial osteomas and perhaps pituitary tumors should be included in the nosography of the Opitz GBBB syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7493033+9843057" 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>Reviewing all MID1-mutated Opitz syndrome patients thus far reported, <a href="#5" class="mim-tip-reference" title="De Falco, F., Cainarca, S., Andolfi, G., Ferrentino, R., Berti, C., Rodriguez Criado, G.., Rittinger, O., Dennis, N., Odent, S., Rastogi, A., Liebelt, J., Chitayat, D., Winter, R., Jawanda, H., Ballabio, A., Franco, B., Meroni, G. <strong>X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum.</strong> Am. J. Med. Genet. 120A: 222-228, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12833403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12833403</a>] [<a href="https://doi.org/10.1002/ajmg.a.10265" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12833403">De Falco et al. (2003)</a> confirmed that hypertelorism and hypospadias were the most frequent manifestations, being present in almost all individuals. Laryngotracheoesophageal defects were also common anomalies, being manifested by all MID1-mutated male patients. Congenital heart and anal abnormalities were less frequent than reported in the literature. <a href="#5" class="mim-tip-reference" title="De Falco, F., Cainarca, S., Andolfi, G., Ferrentino, R., Berti, C., Rodriguez Criado, G.., Rittinger, O., Dennis, N., Odent, S., Rastogi, A., Liebelt, J., Chitayat, D., Winter, R., Jawanda, H., Ballabio, A., Franco, B., Meroni, G. <strong>X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum.</strong> Am. J. Med. Genet. 120A: 222-228, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12833403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12833403</a>] [<a href="https://doi.org/10.1002/ajmg.a.10265" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12833403">De Falco et al. (2003)</a> included limb defects in the clinical synopsis of Opitz syndrome, because they found MID1-mutated patients showing syndactyly. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12833403" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#17" class="mim-tip-reference" title="Pinson, L., Auge, J., Audollent, S., Mattei, G., Etchevers, H., Gigarel, N., Razavi, F., Lacombe, D., Odent, S., Le Merrer, M., Amiel, J., Munnich, A., Meroni, G., Lyonnet, S., Vekemans, M., Attie-Bitach, T. <strong>Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome. (Letter)</strong> J. Med. Genet. 41: 381-386, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15121778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15121778</a>] [<a href="https://doi.org/10.1136/jmg.2003.014829" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15121778">Pinson et al. (2004)</a> found vermis hypoplasia or agenesis in 4 of 9 patients with MID1 mutations, including 1 patient with no developmental delay, and suggested that this is an important clinical feature that should be routinely sought even in patients without mental retardation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15121778" 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="#7" class="mim-tip-reference" title="Funke, S., Kellermayer, R., Czako, M., So, J., Kosztolanyi, G., Ertl, T. <strong>Congenital chylothorax in Opitz G/BBB syndrome.</strong> Am. J. Med. Genet. 140A: 1119-1121, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16619207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16619207</a>] [<a href="https://doi.org/10.1002/ajmg.a.31224" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16619207">Funke et al. (2006)</a> presented a case of Opitz syndrome complicated by congenital chylothorax (<a href="/entry/603523">603523</a>), a collection of lymph in the pleural space. The mother had marked hypertelorism. The boy also had bilateral cleft lip and palate, hypertelorism, hypospadias, right cryptorchidism, left hydrocele, widow's peak, prominent forehead, low-set and posteriorly angulated ears, and flat, broad nasal bridge. No mutation was detected in MID1. The patient was treated with octreotide, a somatostatin analog, which had proven to be effective for treatment of congenital cases of chylothorax (<a href="#8" class="mim-tip-reference" title="Goto, M., Kawamata, K., Kitano, M., Watanabe, K., Chiba, Y. <strong>Treatment of chylothorax in a premature infant using somatostatin.</strong> J. Perinatol. 23: 563-564, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14566354/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14566354</a>] [<a href="https://doi.org/10.1038/sj.jp.7210975" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14566354">Goto et al., 2003</a>; <a href="#26" class="mim-tip-reference" title="Young, S., Dalgleish, S., Eccleston, A., Aikerman, A., McMillan, D. <strong>Severe congenital chylothorax treated with octreotide.</strong> J. Perinatol. 24: 200-202, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15044932/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15044932</a>] [<a href="https://doi.org/10.1038/sj.jp.7211053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15044932">Young et al., 2004</a>), intractable post-operative chylothorax (<a href="#3" class="mim-tip-reference" title="Clarke, S. A., Lakhoo, K., Sherwood, W. <strong>Somatostatin for intractable postoperative chylothorax in a premature infant.</strong> Pediat. Surg. Int. 21: 390-391, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15711803/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15711803</a>] [<a href="https://doi.org/10.1007/s00383-004-1361-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15711803">Clarke et al., 2005</a>) and even intestinal lymphangiectasia in Noonan syndrome (<a href="/entry/163950">163950</a>) (<a href="#23" class="mim-tip-reference" title="Strehl, J., Schepke, M., Wardelmann, E., Caselmann, W. H., Sauerbruch, T. <strong>Chronische diarrho bei einem 43-jahrigen patienten.</strong> Internist (Berl) 44: 626-630, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12966790/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12966790</a>] [<a href="https://doi.org/10.1007/s00108-003-0856-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12966790">Strehl et al., 2003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16619207+15711803+12966790+14566354+15044932" 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="#24" class="mim-tip-reference" title="Trockenbacher, A., Suckow, V., Foerster, J., Winter, J., Krauss, S., Ropers, H.-H., Schneider, R., Schweiger, S. <strong>MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation.</strong> Nature Genet. 29: 287-294, 2001. Note: Erratum: Nature Genet. 30: 123 only, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11685209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11685209</a>] [<a href="https://doi.org/10.1038/ng762" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11685209">Trockenbacher et al. (2001)</a> showed that mutation in the MID1 gene leads to a marked accumulation of the catalytic subunit of protein phosphatase 2A (PP2CA; <a href="/entry/176915">176915</a>), a central cellular regulator. This accumulation is caused by an impairment of the E3 ubiquitin ligase activity of the MID1 protein that normally targets PP2CA for degradation through binding to its alpha-4 regulatory subunit, as demonstrated in an embryonic fibroblast line derived from a fetus with Opitz syndrome. Elevated PP2A catalytic subunit caused hypophosphorylation of microtubule-associated proteins, a pathologic mechanism that is consistent with the Opitz syndrome phenotype. The alpha-4 regulatory subunit of PP2A is also known as immunoglobulin-binding protein 1 (IGBP1; <a href="/entry/300139">300139</a>). <a href="#24" class="mim-tip-reference" title="Trockenbacher, A., Suckow, V., Foerster, J., Winter, J., Krauss, S., Ropers, H.-H., Schneider, R., Schweiger, S. <strong>MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation.</strong> Nature Genet. 29: 287-294, 2001. Note: Erratum: Nature Genet. 30: 123 only, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11685209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11685209</a>] [<a href="https://doi.org/10.1038/ng762" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11685209">Trockenbacher et al. (2001)</a> pointed out that the IGBP1 gene maps to the same linkage interval in Xq13 as does the FG syndrome (<a href="/entry/305450">305450</a>). Similar to Opitz syndrome, FG syndrome is characterized by mental retardation combined with imperforate anus, congenital heart defects, and characteristic facies. <a href="#24" class="mim-tip-reference" title="Trockenbacher, A., Suckow, V., Foerster, J., Winter, J., Krauss, S., Ropers, H.-H., Schneider, R., Schweiger, S. <strong>MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation.</strong> Nature Genet. 29: 287-294, 2001. Note: Erratum: Nature Genet. 30: 123 only, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11685209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11685209</a>] [<a href="https://doi.org/10.1038/ng762" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11685209">Trockenbacher et al. (2001)</a> speculated that IGBP1 has a role in the pathogenesis of FG syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11685209" 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="Verloes, A., David, A., Odent, S., Toutain, A., Andre, M.-J., Lucas, J., Le Marec, B. <strong>Opitz GBBB syndrome: chromosomal evidence of an X-linked form.</strong> Am. J. Med. Genet. 59: 123-128, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8849003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8849003</a>] [<a href="https://doi.org/10.1002/ajmg.1320590124" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8849003">Verloes et al. (1995)</a> reported a large pedigree in which Opitz GBBB syndrome cosegregated with a pericentric inversion of the X chromosome: inv(X)(p22.3q26). This suggested the existence of a true X-linked form of GBBB that does not appear phenotypically different from its autosomal counterpart. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8849003" 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 study of multiple families diagnosed with Opitz BBBG syndrome, <a href="#19" class="mim-tip-reference" title="Robin, N. H., Feldman, G. J., Aronson, A. L., Mitchell, H. F., Weksberg, R., Leonard, C. O., Burton, B. K., Josephson, K. D., Laxova, R., Aleck, K. A., Allanson, J. E., Guion-Almeida, M. L., Martin, R. A., Leichtman, L. G., Price, R. A., Opitz, J. M., Muenke, M. <strong>Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2.</strong> Nature Genet. 11: 459-461, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7493033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7493033</a>] [<a href="https://doi.org/10.1038/ng1295-459" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7493033">Robin et al. (1995)</a> found linkage in 3 families to DXS987 to Xp22, with a lod score of 3.53 at zero recombination, and in 5 families they found linkage to D22S345 on 22q11.2, with a lod score of 3.53 at zero recombination. They saw no phenotypic differences between the families and designated the disorder mapped to Xp22 as Opitz BBBG syndrome type I and that mapped to 22q11 with Opitz BGGG type II. The original G family (<a href="#13" class="mim-tip-reference" title="Opitz, J. M., Frias, J. L., Gutenberger, J. E., Pellett, J. R. <strong>The G syndrome of multiple congenital anomalies.</strong> Birth Defects Orig. Art. Ser. V(2): 95-101, 1969."None>Opitz et al., 1969</a>) was shown by linkage to map to Xp22. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7493033" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Although the Opitz syndrome maps to Xp22 in approximately the same area as craniofrontonasal dysplasia (<a href="/entry/304110">304110</a>), <a href="#12" class="mim-tip-reference" title="Muenke, M. <strong>Personal Communication.</strong> Philadelphia, Pa 2/25/1996."None>Muenke (1996)</a> concluded that they represent separate loci.</p>
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<p><a href="#14" class="mim-tip-reference" title="Opitz, J. M. <strong>G syndrome (hypertelorism with esophageal abnormality and hypospadias, or hypospadias-dysphagia, or 'Opitz-Frias' or 'Opitz-G' syndrome)--perspective in 1987 and bibliography.</strong> Am. J. Med. Genet. 28: 275-285, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3322001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3322001</a>] [<a href="https://doi.org/10.1002/ajmg.1320280203" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3322001">Opitz (1987)</a> cited work of <a href="#22" class="mim-tip-reference" title="Stevens, C. A., Wilroy, R. S. <strong>The telecanthus-hypospadias syndrome. (Abstract)</strong> Program and Abstracts, David W. Smith Workshop on Malformations and Morphogenesis: Burlington, Vermont 1986."None>Stevens and Wilroy (1986)</a> suggesting that the BBB syndrome is an X-linked dominant disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3322001" 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="Robin, N. H., Feldman, G. J., Aronson, A. L., Mitchell, H. F., Weksberg, R., Leonard, C. O., Burton, B. K., Josephson, K. D., Laxova, R., Aleck, K. A., Allanson, J. E., Guion-Almeida, M. L., Martin, R. A., Leichtman, L. G., Price, R. A., Opitz, J. M., Muenke, M. <strong>Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2.</strong> Nature Genet. 11: 459-461, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7493033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7493033</a>] [<a href="https://doi.org/10.1038/ng1295-459" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7493033">Robin et al. (1995)</a> found by linkage analysis that G syndrome in the original G family of <a href="#13" class="mim-tip-reference" title="Opitz, J. M., Frias, J. L., Gutenberger, J. E., Pellett, J. R. <strong>The G syndrome of multiple congenital anomalies.</strong> Birth Defects Orig. Art. Ser. V(2): 95-101, 1969."None>Opitz et al. (1969)</a> was an X-linked disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7493033" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#9" class="mim-tip-reference" title="Hogdall, C., Siegel-Bartelt, J., Toi, A., Ritchie, S. <strong>Prenatal diagnosis of Opitz (BBB) syndrome in the second trimester by ultrasound detection of hypospadias and hypertelorism.</strong> Prenatal Diag. 9: 783-793, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2694153/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2694153</a>] [<a href="https://doi.org/10.1002/pd.1970091107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2694153">Hogdall et al. (1989)</a> made the diagnosis of the BBB syndrome at 19 weeks' gestation by ultrasonographic demonstration of hypertelorism and hypospadias. The pedigree showed affected individuals in 3 generations in a pattern consistent with X-linked inheritance with minor expression in the heterozygous females. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2694153" 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="#18" class="mim-tip-reference" title="Quaderi, N. A., Schweiger, S., Gaudenz, K., Franco, B., Rugarli, E. I., Berger, W., Feldman, G. J., Volta, M., Andolfi, G., Gilgenkrantz, S., Marion, R. W., Hennekam, R. C. M., Opitz, J. M., Muenki, M., Ropers, H. H., Ballabio, A. <strong>Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22.</strong> Nature Genet. 17: 285-291, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9354791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9354791</a>] [<a href="https://doi.org/10.1038/ng1197-285" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9354791">Quaderi et al. (1997)</a> identified mutations in the MID1 gene in 3 Opitz syndrome families: a 3-bp deletion involving a methionine codon (<a href="/entry/300552#0001">300552.0001</a>), a 24-bp duplication causing addition of 8 amino acids (<a href="/entry/300552#0002">300552.0002</a>), and a 1-bp insertion resulting in a frameshift and loss of 101 amino acid residues (<a href="/entry/300552#0003">300552.0003</a>). All these mutations were in the C-terminal region of the MID1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9354791" 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>Among 15 patients with Opitz syndrome, <a href="#4" class="mim-tip-reference" title="Cox, T. C., Allen, L. R., Cox, L. L., Hopwood, B., Goodwin, B., Haan, E., Suthers, G. K. <strong>New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome.</strong> Hum. Molec. Genet. 9: 2553-2562, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11030761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11030761</a>] [<a href="https://doi.org/10.1093/hmg/9.17.2553" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11030761">Cox et al. (2000)</a> identified 7 novel mutations in the MID1 gene, 2 of which disrupt the N terminus of the protein. The most severe of these, glu115 to ter (E115X; <a href="/entry/300552#0005">300552.0005</a>), is predicted to truncate the protein before the B-box motifs. Another mutation, leu626 to pro (L626P; <a href="/entry/300552#0004">300552.0004</a>), represented the most C-terminal alteration reported to date. Green fluorescent protein (GFP) fusion constructs of 2 N-terminal mutants showed no evidence of cytoplasmic aggregation, suggesting that this feature is not pathognomonic for X-linked Opitz syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11030761" 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="Pinson, L., Auge, J., Audollent, S., Mattei, G., Etchevers, H., Gigarel, N., Razavi, F., Lacombe, D., Odent, S., Le Merrer, M., Amiel, J., Munnich, A., Meroni, G., Lyonnet, S., Vekemans, M., Attie-Bitach, T. <strong>Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome. (Letter)</strong> J. Med. Genet. 41: 381-386, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15121778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15121778</a>] [<a href="https://doi.org/10.1136/jmg.2003.014829" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15121778">Pinson et al. (2004)</a> identified 1 previously reported and 5 novel mutations in the MID1 gene in 14 patients with Opitz syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15121778" 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>Among 63 male individuals referred to <a href="#5" class="mim-tip-reference" title="De Falco, F., Cainarca, S., Andolfi, G., Ferrentino, R., Berti, C., Rodriguez Criado, G.., Rittinger, O., Dennis, N., Odent, S., Rastogi, A., Liebelt, J., Chitayat, D., Winter, R., Jawanda, H., Ballabio, A., Franco, B., Meroni, G. <strong>X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum.</strong> Am. J. Med. Genet. 120A: 222-228, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12833403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12833403</a>] [<a href="https://doi.org/10.1002/ajmg.a.10265" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12833403">De Falco et al. (2003)</a> as instances of sporadic or familial X-linked Opitz syndrome, they found novel mutations of the MID1 gene in 11. The mutations were scattered throughout the gene, although more were represented in the 3-prime region. The low frequency of mutations in MID1 and the high variability of the phenotype suggested the involvement of other genes in the causation of OS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12833403" 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>Among 70 patients with clinically diagnosed Opitz syndrome, <a href="#21" class="mim-tip-reference" title="So, J., Suckow, V., Kijas, Z., Kalscheuer, V., Moser, B., Winter, J., Baars, M., Firth, H., Lunt, P., Hamel, B., Meinecke, P., Moraine, C., and 14 others. <strong>Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.</strong> Am. J. Med. Genet. 132A: 1-7, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15558842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15558842</a>] [<a href="https://doi.org/10.1002/ajmg.a.30407" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15558842">So et al. (2005)</a> compared the phenotypes of patients with and without a MID1 mutation to determine if there were distinct clinical patterns in these groups. They identified 10 novel mutations, of which 5 were detected in familial cases, 2 in sporadic cases, and 3 in families in which it was not clear whether the disorder was familial or sporadic. X-linked Opitz syndrome patients with MID1 mutations were less severely affected than patients with MID1 mutations reported in previous studies, particularly in terms of functionally significant neurologic, laryngotracheoesophageal (LTE), anal, and cardiac abnormalities. Minor anomalies were more common in patients with MID1 mutations compared to those without mutations. Female MID1 mutation carriers had milder phenotypes compared to male MID1 mutation carriers, with the most common manifestation being hypertelorism in both sexes. The authors found that most of the anomalies they observed did not correlate with MID1 mutation type, with the possible exception of LTE malformations. <a href="#21" class="mim-tip-reference" title="So, J., Suckow, V., Kijas, Z., Kalscheuer, V., Moser, B., Winter, J., Baars, M., Firth, H., Lunt, P., Hamel, B., Meinecke, P., Moraine, C., and 14 others. <strong>Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.</strong> Am. J. Med. Genet. 132A: 1-7, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15558842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15558842</a>] [<a href="https://doi.org/10.1002/ajmg.a.30407" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15558842">So et al. (2005)</a> demonstrated the wide spectrum of severity and manifestations of Opitz syndrome, and they emphasized that X-linked Opitz syndrome patients with MID1 mutations may be less severely affected than previously reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15558842" 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>There had long been disagreement as to whether the G syndrome is an X-linked recessive or an autosomal dominant with male preference. Beginning with the third edition (1971) and continuing through the seventh edition (1986) of Mendelian Inheritance in Man, the disorder was listed in the X-linked catalog. Although the original pedigrees were consistent with either X-linked or autosomal dominant inheritance, male-to-male transmission in subsequent reports suggested that the disorder is inherited as an autosomal dominant. <a href="#15" class="mim-tip-reference" title="Opitz, J. M. <strong>Personal Communication.</strong> Helena, Mont. 1987."None>Opitz (1987)</a> gave a follow-up on his original family and presented information on a large number of unpublished cases. In conclusion, he wrote as follows: 'We would petition again that the G syndrome be moved from its present entry in the X-linked catalog (in Mendelian Inheritance in Man) into the autosomal dominant section since there is now good evidence of male-to-male transmission with female involvement almost as common (but generally less severe) than male involvement in newly referred proposita.' <a href="#19" class="mim-tip-reference" title="Robin, N. H., Feldman, G. J., Aronson, A. L., Mitchell, H. F., Weksberg, R., Leonard, C. O., Burton, B. K., Josephson, K. D., Laxova, R., Aleck, K. A., Allanson, J. E., Guion-Almeida, M. L., Martin, R. A., Leichtman, L. G., Price, R. A., Opitz, J. M., Muenke, M. <strong>Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2.</strong> Nature Genet. 11: 459-461, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7493033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7493033</a>] [<a href="https://doi.org/10.1038/ng1295-459" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7493033">Robin et al. (1995)</a> found evidence of both X-linked and autosomal dominant (see <a href="/entry/145420">145420</a>) forms of this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7493033" 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 article by <a href="#6" class="mim-tip-reference" title="de Silva, D., Osborne, A., Simpson, S. A., Dean, J. C. S., Seaton, A. <strong>Opitz oculo-genito-laryngeal syndrome: a rare cause of recurrent aspiration pneumonia in an adult.</strong> Thorax 53: 149-150, 1998. Note: Retraction: Thorax, Electronic Publication.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9624301/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9624301</a>] [<a href="https://doi.org/10.1136/thx.53.2.149" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9624301">de Silva et al. (1998)</a> describing a family with X-linked Opitz syndrome in which the diagnosis was established initially in the 64-year-old grandmother after she developed recurrent aspiration pneumonia due to esophageal reflux and pharyngeal dysmotility was retracted 'for data protection reasons.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9624301" 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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<strong>REFERENCES</strong>
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[<a href="https://doi.org/10.1002/ajmg.1320050316" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(sici)1096-8628(19981116)80:3<291::aid-ajmg23>3.0.co;2-r" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s00383-004-1361-x" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11030761/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11030761</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11030761" 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/9.17.2553" target="_blank">Full Text</a>]
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<a id="De Falco2003" class="mim-anchor"></a>
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De Falco, F., Cainarca, S., Andolfi, G., Ferrentino, R., Berti, C., Rodriguez Criado, G.., Rittinger, O., Dennis, N., Odent, S., Rastogi, A., Liebelt, J., Chitayat, D., Winter, R., Jawanda, H., Ballabio, A., Franco, B., Meroni, G.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12833403/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12833403</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12833403" 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.10265" target="_blank">Full Text</a>]
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<a id="de Silva1998" class="mim-anchor"></a>
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<div class="mim-changed mim-change">
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<p class="mim-text-font">
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de Silva, D., Osborne, A., Simpson, S. A., Dean, J. C. S., Seaton, A.
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<strong>Opitz oculo-genito-laryngeal syndrome: a rare cause of recurrent aspiration pneumonia in an adult.</strong>
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Thorax 53: 149-150, 1998. Note: Retraction: Thorax, Electronic Publication.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9624301/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9624301</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9624301" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/thx.53.2.149" target="_blank">Full Text</a>]
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<strong>Congenital chylothorax in Opitz G/BBB syndrome.</strong>
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[<a href="https://doi.org/10.1002/ajmg.a.31224" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/sj.jp.7210975" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(sici)1096-8628(19980707)78:3<294::aid-ajmg18>3.0.co;2-a" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00440023" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320280203" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15121778/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15121778</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15121778" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.2003.014829" target="_blank">Full Text</a>]
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Quaderi, N. A., Schweiger, S., Gaudenz, K., Franco, B., Rugarli, E. I., Berger, W., Feldman, G. J., Volta, M., Andolfi, G., Gilgenkrantz, S., Marion, R. W., Hennekam, R. C. M., Opitz, J. M., Muenki, M., Ropers, H. H., Ballabio, A.
|
|
<strong>Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22.</strong>
|
|
Nature Genet. 17: 285-291, 1997.
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|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9354791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9354791</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9354791" 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/ng1197-285" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="19" class="mim-anchor"></a>
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<a id="Robin1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Robin, N. H., Feldman, G. J., Aronson, A. L., Mitchell, H. F., Weksberg, R., Leonard, C. O., Burton, B. K., Josephson, K. D., Laxova, R., Aleck, K. A., Allanson, J. E., Guion-Almeida, M. L., Martin, R. A., Leichtman, L. G., Price, R. A., Opitz, J. M., Muenke, M.
|
|
<strong>Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2.</strong>
|
|
Nature Genet. 11: 459-461, 1995.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7493033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7493033</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7493033" 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/ng1295-459" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="20" class="mim-anchor"></a>
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<a id="Robin1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
|
Robin, N. H., Opitz, J. M., Muenke, M.
|
|
<strong>Opitz G/BBB syndrome: clinical comparisons of families linked to Xp22 and 22q, and a review of the literature.</strong>
|
|
Am. J. Med. Genet. 62: 305-317, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8882794/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8882794</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8882794" 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(19960329)62:3<305::AID-AJMG20>3.0.CO;2-N" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="21" class="mim-anchor"></a>
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<a id="So2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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So, J., Suckow, V., Kijas, Z., Kalscheuer, V., Moser, B., Winter, J., Baars, M., Firth, H., Lunt, P., Hamel, B., Meinecke, P., Moraine, C., and 14 others.
|
|
<strong>Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations.</strong>
|
|
Am. J. Med. Genet. 132A: 1-7, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15558842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15558842</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15558842" 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.30407" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="22" class="mim-anchor"></a>
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<a id="Stevens1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stevens, C. A., Wilroy, R. S.
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|
<strong>The telecanthus-hypospadias syndrome. (Abstract)</strong>
|
|
Program and Abstracts, David W. Smith Workshop on Malformations and Morphogenesis: Burlington, Vermont 1986.
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</p>
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</div>
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</li>
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<li>
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<a id="23" class="mim-anchor"></a>
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<a id="Strehl2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Strehl, J., Schepke, M., Wardelmann, E., Caselmann, W. H., Sauerbruch, T.
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|
<strong>Chronische diarrho bei einem 43-jahrigen patienten.</strong>
|
|
Internist (Berl) 44: 626-630, 2003.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12966790/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12966790</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12966790" 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/10.1007/s00108-003-0856-1" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="24" class="mim-anchor"></a>
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<a id="Trockenbacher2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Trockenbacher, A., Suckow, V., Foerster, J., Winter, J., Krauss, S., Ropers, H.-H., Schneider, R., Schweiger, S.
|
|
<strong>MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation.</strong>
|
|
Nature Genet. 29: 287-294, 2001. Note: Erratum: Nature Genet. 30: 123 only, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11685209/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11685209</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11685209" 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/ng762" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="25" class="mim-anchor"></a>
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<a id="Verloes1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Verloes, A., David, A., Odent, S., Toutain, A., Andre, M.-J., Lucas, J., Le Marec, B.
|
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<strong>Opitz GBBB syndrome: chromosomal evidence of an X-linked form.</strong>
|
|
Am. J. Med. Genet. 59: 123-128, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8849003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8849003</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8849003" 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.1320590124" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="26" class="mim-anchor"></a>
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<a id="Young2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Young, S., Dalgleish, S., Eccleston, A., Aikerman, A., McMillan, D.
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<strong>Severe congenital chylothorax treated with octreotide.</strong>
|
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J. Perinatol. 24: 200-202, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15044932/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15044932</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15044932" 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/sj.jp.7211053" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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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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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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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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Victor A. McKusick - updated : 6/5/2006
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 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 - updated : 8/17/2005<br>Victor A. McKusick - updated : 1/12/2005<br>Marla J. F. O'Neill - updated : 6/11/2004<br>Victor A. McKusick - updated : 3/25/2003<br>Victor A. McKusick - updated : 11/1/2001<br>Victor A. McKusick - updated : 6/18/2001<br>George E. Tiller - updated : 2/6/2001<br>Victor A. McKusick - updated : 8/13/1999<br>Victor A. McKusick - updated : 4/20/1999<br>Victor A. McKusick - updated : 12/30/1998<br>Victor A. McKusick - updated : 8/17/1998<br>Victor A. McKusick - updated : 4/24/1998<br>Victor A. McKusick - updated : 11/3/1997<br>Victor A. McKusick - updated : 10/24/1997
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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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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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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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</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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Victor A. McKusick : 12/18/1995
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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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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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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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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </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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carol : 01/15/2025
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 04/07/2022<br>carol : 04/06/2022<br>carol : 08/01/2019<br>carol : 03/17/2015<br>mcolton : 3/16/2015<br>ckniffin : 3/16/2015<br>carol : 10/31/2008<br>carol : 10/30/2008<br>terry : 11/3/2006<br>alopez : 6/9/2006<br>terry : 6/5/2006<br>wwang : 8/26/2005<br>wwang : 8/24/2005<br>terry : 8/17/2005<br>carol : 8/9/2005<br>terry : 8/9/2005<br>wwang : 1/20/2005<br>wwang : 1/14/2005<br>terry : 1/12/2005<br>carol : 6/14/2004<br>terry : 6/11/2004<br>carol : 3/17/2004<br>tkritzer : 4/1/2003<br>terry : 3/25/2003<br>alopez : 1/7/2002<br>alopez : 11/2/2001<br>alopez : 11/2/2001<br>terry : 11/1/2001<br>mcapotos : 7/20/2001<br>mcapotos : 6/28/2001<br>mcapotos : 6/22/2001<br>terry : 6/18/2001<br>carol : 2/6/2001<br>alopez : 1/13/2000<br>carol : 1/12/2000<br>carol : 8/17/1999<br>terry : 8/13/1999<br>mgross : 4/21/1999<br>terry : 4/20/1999<br>carol : 1/4/1999<br>terry : 12/30/1998<br>carol : 8/17/1998<br>terry : 8/17/1998<br>terry : 8/14/1998<br>alopez : 5/27/1998<br>carol : 4/24/1998<br>terry : 4/14/1998<br>mark : 11/7/1997<br>mark : 11/5/1997<br>terry : 11/5/1997<br>terry : 11/4/1997<br>terry : 11/3/1997<br>terry : 10/28/1997<br>alopez : 10/27/1997<br>terry : 10/24/1997<br>terry : 3/21/1997<br>terry : 3/17/1997<br>terry : 4/8/1996<br>mark : 3/4/1996<br>mark : 3/3/1996<br>mark : 1/5/1996<br>mark : 12/20/1995
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</span>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 300000
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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OPITZ GBBB SYNDROME; GBBB
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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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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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OPITZ GBBB SYNDROME, X-LINKED<br />
|
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OPITZ SYNDROME; OS<br />
|
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OPITZ SYNDROME, X-LINKED; OSX<br />
|
|
HYPERTELORISM WITH ESOPHAGEAL ABNORMALITY AND HYPOSPADIAS<br />
|
|
HYPERTELORISM-HYPOSPADIAS SYNDROME<br />
|
|
TELECANTHUS-HYPOSPADIAS SYNDROME<br />
|
|
OPITZ GBBB SYNDROME, TYPE I, FORMERLY; GBBB1, FORMERLY<br />
|
|
OPITZ-G SYNDROME, TYPE I, FORMERLY; OGS1, FORMERLY<br />
|
|
OPITZ BBBG SYNDROME, TYPE I, FORMERLY; BBBG1, FORMERLY
|
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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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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 81771002;
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<strong>ORPHA:</strong> 2745;
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<strong>DO:</strong> 0080697;
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</span>
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</p>
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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>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>
|
|
Inheritance
|
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</th>
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<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
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<th>
|
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Gene/Locus
|
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</th>
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<th>
|
|
Gene/Locus <br /> MIM number
|
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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Xp22.2
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Opitz GBBB syndrome
|
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</span>
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<span class="mim-font">
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300000
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<span class="mim-font">
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X-linked recessive
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<span class="mim-font">
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3
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<span class="mim-font">
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MID1
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<span class="mim-font">
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300552
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<span class="mim-font">
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<strong>TEXT</strong>
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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 X-linked Opitz GBBB syndrome (GBBB) is caused by mutation in the MID1 gene (300552) on chromosome Xp22.</p>
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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 class="mim-text-font">
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<p>Opitz GBBB syndrome (GBBB) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects (So et al., 2005). </p>
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<span class="mim-font">
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<strong>Nomenclature</strong>
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<span class="mim-text-font">
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<p>Opitz GBBB syndrome was first reported as 2 separate entities, BBB syndrome and G syndrome; subsequent reports of families in which the BBB and G syndromes segregated within a single kindred suggested that they represent a single entity.</p><p>An autosomal dominant form of Opitz GBBB syndrome, designated GBBB2, was mapped to chromosome 22q11 (Robin et al., 1995). Later reports indicated that the disorder had features more similar to Teebi hypertelorism syndrome-1 (TBHS1; 145420); both disorders were found to caused by mutation in the SPECC1L gene and are considered to be the same. The autosomal disorder is referred to in OMIM as TBHS1. </p>
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<h4>
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<strong>Clinical Features</strong>
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<span class="mim-text-font">
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<p>Opitz et al. (1969) described 4 brothers with hypertelorism, a neuromuscular defect of the esophagus and swallowing mechanism, hoarse cry, hypospadias, cryptorchidism, bifid scrotum, and, in one, imperforate anus. Two other brothers had died of aspiration. The parents were not related. The mother, who was thought to have minor stigmata such as hypertelorism, had difficulty swallowing fluids until age 11 months when a lingual frenulum (also present in at least 1 of the affected sons) was resected. Four living sisters were well except for one with Usher syndrome (congenital deafness and retinitis pigmentosa) and one with swallowing difficulties like the mother. As was his practice, Opitz et al. (1969) designated the condition 'G syndrome' after the family in which he observed it.</p><p>Kasner et al. (1974) described a lethally affected female born into the family originally reported by Opitz's group. Arya et al. (1980) reported the second lethal case in a female, the niece of the original G brothers. </p><p>Robin et al. (1995) pictured an affected brother and sister from family 5 with X-linked GBBB; both had widely spaced eyes and the brother had repaired cleft lip and tracheotomy necessitated by a laryngotracheal cleft. </p><p>Robin et al. (1996) compared the phenotypic features of the X-linked and the formerly designated autosomal form of the Opitz GBBB syndrome, here called Teebi syndrome-1 (see 145420). They found that anteverted nares and posterior pharyngeal cleft were seen only in the X-linked form. However, all other manifestations of the syndrome, such as hypertelorism, swallowing difficulties, hypospadias, and developmental delay, occurred in both. </p><p>Monozygotic twinning, which is unusually frequent in families with GBBB, may be a manifestation of the defect; unusually severe cases with early lethality occur as twins (Opitz, 1996).</p><p>Jacobson et al. (1998) reviewed the spectrum of congenital heart disease and genitourinary anomalies seen in Opitz syndrome. They reported an infant with this disorder and a combination of complex congenital heart disease (double outlet right ventricle with pulmonary atresia, malalignment ventriculoseptal defect, right-sided aortic arch with left ductus arteriosus) and bladder exstrophy. Neither of these defects had previously been reported in association with Opitz syndrome. Since both were midline defects, they further characterized Opitz syndrome as an impairment in midline development. </p><p>Brooks et al. (1998) described pituitary macroadenoma and cranial osteoma in a 43-year-old woman, a mother of a boy with typical Opitz syndrome and herself a manifesting heterozygote. She had telecanthus, anteverted nares, and a history of frequent respiratory and urinary tract infections. Her son had hypertelorism, bilaterally cleft lip and palate, hypospadias, and dysphagia with multiple episodes of aspiration pneumonia. Linkage analysis had demonstrated X-linked inheritance in this family (Robin et al., 1995). Brooks et al. (1998) concluded that cranial osteomas are not associated with growth hormone hypersecretion and that therefore cranial osteomas and perhaps pituitary tumors should be included in the nosography of the Opitz GBBB syndrome. </p><p>Reviewing all MID1-mutated Opitz syndrome patients thus far reported, De Falco et al. (2003) confirmed that hypertelorism and hypospadias were the most frequent manifestations, being present in almost all individuals. Laryngotracheoesophageal defects were also common anomalies, being manifested by all MID1-mutated male patients. Congenital heart and anal abnormalities were less frequent than reported in the literature. De Falco et al. (2003) included limb defects in the clinical synopsis of Opitz syndrome, because they found MID1-mutated patients showing syndactyly. </p><p>Pinson et al. (2004) found vermis hypoplasia or agenesis in 4 of 9 patients with MID1 mutations, including 1 patient with no developmental delay, and suggested that this is an important clinical feature that should be routinely sought even in patients without mental retardation. </p><p>Funke et al. (2006) presented a case of Opitz syndrome complicated by congenital chylothorax (603523), a collection of lymph in the pleural space. The mother had marked hypertelorism. The boy also had bilateral cleft lip and palate, hypertelorism, hypospadias, right cryptorchidism, left hydrocele, widow's peak, prominent forehead, low-set and posteriorly angulated ears, and flat, broad nasal bridge. No mutation was detected in MID1. The patient was treated with octreotide, a somatostatin analog, which had proven to be effective for treatment of congenital cases of chylothorax (Goto et al., 2003; Young et al., 2004), intractable post-operative chylothorax (Clarke et al., 2005) and even intestinal lymphangiectasia in Noonan syndrome (163950) (Strehl et al., 2003). </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Pathogenesis</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>Trockenbacher et al. (2001) showed that mutation in the MID1 gene leads to a marked accumulation of the catalytic subunit of protein phosphatase 2A (PP2CA; 176915), a central cellular regulator. This accumulation is caused by an impairment of the E3 ubiquitin ligase activity of the MID1 protein that normally targets PP2CA for degradation through binding to its alpha-4 regulatory subunit, as demonstrated in an embryonic fibroblast line derived from a fetus with Opitz syndrome. Elevated PP2A catalytic subunit caused hypophosphorylation of microtubule-associated proteins, a pathologic mechanism that is consistent with the Opitz syndrome phenotype. The alpha-4 regulatory subunit of PP2A is also known as immunoglobulin-binding protein 1 (IGBP1; 300139). Trockenbacher et al. (2001) pointed out that the IGBP1 gene maps to the same linkage interval in Xq13 as does the FG syndrome (305450). Similar to Opitz syndrome, FG syndrome is characterized by mental retardation combined with imperforate anus, congenital heart defects, and characteristic facies. Trockenbacher et al. (2001) speculated that IGBP1 has a role in the pathogenesis of FG syndrome. </p>
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</span>
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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>Mapping</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>Verloes et al. (1995) reported a large pedigree in which Opitz GBBB syndrome cosegregated with a pericentric inversion of the X chromosome: inv(X)(p22.3q26). This suggested the existence of a true X-linked form of GBBB that does not appear phenotypically different from its autosomal counterpart. </p><p>In a study of multiple families diagnosed with Opitz BBBG syndrome, Robin et al. (1995) found linkage in 3 families to DXS987 to Xp22, with a lod score of 3.53 at zero recombination, and in 5 families they found linkage to D22S345 on 22q11.2, with a lod score of 3.53 at zero recombination. They saw no phenotypic differences between the families and designated the disorder mapped to Xp22 as Opitz BBBG syndrome type I and that mapped to 22q11 with Opitz BGGG type II. The original G family (Opitz et al., 1969) was shown by linkage to map to Xp22. </p><p>Although the Opitz syndrome maps to Xp22 in approximately the same area as craniofrontonasal dysplasia (304110), Muenke (1996) concluded that they represent separate loci.</p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>Opitz (1987) cited work of Stevens and Wilroy (1986) suggesting that the BBB syndrome is an X-linked dominant disorder. </p><p>Robin et al. (1995) found by linkage analysis that G syndrome in the original G family of Opitz et al. (1969) was an X-linked disorder. </p>
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</span>
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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>Diagnosis</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><strong><em>Prenatal Diagnosis</em></strong></p><p>
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Hogdall et al. (1989) made the diagnosis of the BBB syndrome at 19 weeks' gestation by ultrasonographic demonstration of hypertelorism and hypospadias. The pedigree showed affected individuals in 3 generations in a pattern consistent with X-linked inheritance with minor expression in the heterozygous females. </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>Quaderi et al. (1997) identified mutations in the MID1 gene in 3 Opitz syndrome families: a 3-bp deletion involving a methionine codon (300552.0001), a 24-bp duplication causing addition of 8 amino acids (300552.0002), and a 1-bp insertion resulting in a frameshift and loss of 101 amino acid residues (300552.0003). All these mutations were in the C-terminal region of the MID1 gene. </p><p>Among 15 patients with Opitz syndrome, Cox et al. (2000) identified 7 novel mutations in the MID1 gene, 2 of which disrupt the N terminus of the protein. The most severe of these, glu115 to ter (E115X; 300552.0005), is predicted to truncate the protein before the B-box motifs. Another mutation, leu626 to pro (L626P; 300552.0004), represented the most C-terminal alteration reported to date. Green fluorescent protein (GFP) fusion constructs of 2 N-terminal mutants showed no evidence of cytoplasmic aggregation, suggesting that this feature is not pathognomonic for X-linked Opitz syndrome. </p><p>Pinson et al. (2004) identified 1 previously reported and 5 novel mutations in the MID1 gene in 14 patients with Opitz syndrome. </p><p>Among 63 male individuals referred to De Falco et al. (2003) as instances of sporadic or familial X-linked Opitz syndrome, they found novel mutations of the MID1 gene in 11. The mutations were scattered throughout the gene, although more were represented in the 3-prime region. The low frequency of mutations in MID1 and the high variability of the phenotype suggested the involvement of other genes in the causation of OS. </p>
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</span>
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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>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>Among 70 patients with clinically diagnosed Opitz syndrome, So et al. (2005) compared the phenotypes of patients with and without a MID1 mutation to determine if there were distinct clinical patterns in these groups. They identified 10 novel mutations, of which 5 were detected in familial cases, 2 in sporadic cases, and 3 in families in which it was not clear whether the disorder was familial or sporadic. X-linked Opitz syndrome patients with MID1 mutations were less severely affected than patients with MID1 mutations reported in previous studies, particularly in terms of functionally significant neurologic, laryngotracheoesophageal (LTE), anal, and cardiac abnormalities. Minor anomalies were more common in patients with MID1 mutations compared to those without mutations. Female MID1 mutation carriers had milder phenotypes compared to male MID1 mutation carriers, with the most common manifestation being hypertelorism in both sexes. The authors found that most of the anomalies they observed did not correlate with MID1 mutation type, with the possible exception of LTE malformations. So et al. (2005) demonstrated the wide spectrum of severity and manifestations of Opitz syndrome, and they emphasized that X-linked Opitz syndrome patients with MID1 mutations may be less severely affected than previously reported. </p>
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</span>
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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>History</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>There had long been disagreement as to whether the G syndrome is an X-linked recessive or an autosomal dominant with male preference. Beginning with the third edition (1971) and continuing through the seventh edition (1986) of Mendelian Inheritance in Man, the disorder was listed in the X-linked catalog. Although the original pedigrees were consistent with either X-linked or autosomal dominant inheritance, male-to-male transmission in subsequent reports suggested that the disorder is inherited as an autosomal dominant. Opitz (1987) gave a follow-up on his original family and presented information on a large number of unpublished cases. In conclusion, he wrote as follows: 'We would petition again that the G syndrome be moved from its present entry in the X-linked catalog (in Mendelian Inheritance in Man) into the autosomal dominant section since there is now good evidence of male-to-male transmission with female involvement almost as common (but generally less severe) than male involvement in newly referred proposita.' Robin et al. (1995) found evidence of both X-linked and autosomal dominant (see 145420) forms of this disorder. </p><p>The article by de Silva et al. (1998) describing a family with X-linked Opitz syndrome in which the diagnosis was established initially in the 64-year-old grandmother after she developed recurrent aspiration pneumonia due to esophageal reflux and pharyngeal dysmotility was retracted 'for data protection reasons.' </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Arya, S., Viseskul, C., Gilbert, E. F.
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<strong>The G syndrome--additional observations.</strong>
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Am. J. Med. Genet. 5: 321-324, 1980.
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[PubMed: 7405964]
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[Full Text: https://doi.org/10.1002/ajmg.1320050316]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Brooks, J. K., Leonard, C. O., Zawadzki, J. K., Ommaya, A. K., Levy, B. A., Orenstein, J. M.
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<strong>Pituitary macroadenoma and cranial osteoma in a manifesting heterozygote with the Opitz G/BBB syndrome. (Letter)</strong>
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Am. J. Med. Genet. 80: 291-293, 1998.
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[PubMed: 9843057]
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[Full Text: https://doi.org/10.1002/(sici)1096-8628(19981116)80:3<291::aid-ajmg23>3.0.co;2-r]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Clarke, S. A., Lakhoo, K., Sherwood, W.
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<strong>Somatostatin for intractable postoperative chylothorax in a premature infant.</strong>
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Pediat. Surg. Int. 21: 390-391, 2005.
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[PubMed: 15711803]
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[Full Text: https://doi.org/10.1007/s00383-004-1361-x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Cox, T. C., Allen, L. R., Cox, L. L., Hopwood, B., Goodwin, B., Haan, E., Suthers, G. K.
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<strong>New mutations in MID1 provide support for loss of function as the cause of X-linked Opitz syndrome.</strong>
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Hum. Molec. Genet. 9: 2553-2562, 2000.
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[PubMed: 11030761]
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[Full Text: https://doi.org/10.1093/hmg/9.17.2553]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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De Falco, F., Cainarca, S., Andolfi, G., Ferrentino, R., Berti, C., Rodriguez Criado, G.., Rittinger, O., Dennis, N., Odent, S., Rastogi, A., Liebelt, J., Chitayat, D., Winter, R., Jawanda, H., Ballabio, A., Franco, B., Meroni, G.
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<strong>X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum.</strong>
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Am. J. Med. Genet. 120A: 222-228, 2003.
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[PubMed: 12833403]
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[Full Text: https://doi.org/10.1002/ajmg.a.10265]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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de Silva, D., Osborne, A., Simpson, S. A., Dean, J. C. S., Seaton, A.
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<strong>Opitz oculo-genito-laryngeal syndrome: a rare cause of recurrent aspiration pneumonia in an adult.</strong>
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Thorax 53: 149-150, 1998. Note: Retraction: Thorax, Electronic Publication.
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[PubMed: 9624301]
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[Full Text: https://doi.org/10.1136/thx.53.2.149]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Funke, S., Kellermayer, R., Czako, M., So, J., Kosztolanyi, G., Ertl, T.
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<strong>Congenital chylothorax in Opitz G/BBB syndrome.</strong>
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Am. J. Med. Genet. 140A: 1119-1121, 2006.
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[PubMed: 16619207]
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[Full Text: https://doi.org/10.1002/ajmg.a.31224]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Goto, M., Kawamata, K., Kitano, M., Watanabe, K., Chiba, Y.
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<strong>Treatment of chylothorax in a premature infant using somatostatin.</strong>
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J. Perinatol. 23: 563-564, 2003.
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[PubMed: 14566354]
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[Full Text: https://doi.org/10.1038/sj.jp.7210975]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hogdall, C., Siegel-Bartelt, J., Toi, A., Ritchie, S.
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<strong>Prenatal diagnosis of Opitz (BBB) syndrome in the second trimester by ultrasound detection of hypospadias and hypertelorism.</strong>
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Prenatal Diag. 9: 783-793, 1989.
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[PubMed: 2694153]
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[Full Text: https://doi.org/10.1002/pd.1970091107]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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