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Entry
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- #303600 - COFFIN-LOWRY SYNDROME; CLS
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- OMIM
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<span class="h4">#303600</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/303600"><strong>Clinical Synopsis</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#history">History</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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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>
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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=COFFIN-LOWRY 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=240&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/NBK1346/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/1709" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/coffin-lowry-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=303600[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=192" 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/4a6f7deb-c286-45a1-9d75-737db5c1fc12/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:3783" 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/303600" 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://omia.org/OMIA002239/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:3783" 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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<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="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" 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="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</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="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:303600" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></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>
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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> 15182000<br />
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<strong>ORPHA:</strong> 192<br />
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<strong>DO:</strong> 3783<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>
|
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303600
|
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</span>
|
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</span>
|
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</div>
|
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</div>
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<div>
|
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
|
<span class="mim-font">
|
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|
|
COFFIN-LOWRY SYNDROME; CLS
|
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</span>
|
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/109?start=-3&limit=10&highlight=109">
|
|
Xp22.12
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Coffin-Lowry syndrome
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/303600"> 303600 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
RPS6KA3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300075"> 300075 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/303600" 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/303600" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/303600" 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 dominant <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847879&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847879</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001423</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001423</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Normal birth length <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853173&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853173</a>]</span><br /> -
|
|
Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Weight </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Normal birth weight <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276712009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276712009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0456136&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0456136</a>]</span><br /> -
|
|
Weight less than 3rd percentile <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844806&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844806</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004325" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004325</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004325" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004325</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Head </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Microcephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551563</a>, <a href="https://bioportal.bioontology.org/search?q=C0025958&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025958</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Microcephaly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Coarse facies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845847&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845847</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000280</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000280</a>]</span><br /> -
|
|
Prominent brow <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842060&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842060</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000336" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000336</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000336" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000336</a>]</span><br /> -
|
|
Prominent chin <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/109504005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">109504005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22810007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22810007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.213" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.213</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.23" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.23</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0399526&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0399526</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000303" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000303</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000303" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000303</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Prominent ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/275478007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">275478007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1305420&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1305420</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000411" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000411</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000411" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000411</a>]</span><br /> -
|
|
Sensorineural hearing loss <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60700002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60700002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018784&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018784</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Downslanting palpebral fissures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246800008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246800008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423110&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423110</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000494</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000494</a>]</span><br /> -
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|
Hypertelorism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22006008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020534</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Heavy eyebrows <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853487&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853487</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000574" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000574</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000574" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000574</a>]</span><br /> -
|
|
Arched eyebrows <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868571&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868571</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002553" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002553</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002553" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002553</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nose </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Broad nose <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=C0426421&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426421</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000445" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000445</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000445" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000445</a>]</span><br /> -
|
|
Thick alae nasi <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844809&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844809</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009928" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009928</a>]</span><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 /> -
|
|
Thick nasal septum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844810&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844810</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009746" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009746</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009746" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009746</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">
|
|
|
|
- Large, open mouth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844811&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844811</a>]</span><br /> -
|
|
Thick, everted lower lip <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844812&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844812</a>]</span><br /> -
|
|
Narrow palate <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1398312&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1398312</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000189" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000189</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000189" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000189</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=e39db66f262e5c44e3a381147eb7f8db" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Palate,Narrow-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=e39db66f262e5c44e3a381147eb7f8db" 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 /> -
|
|
High 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> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=c606b0119d4a894ebd5ee0242c136e29" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Palate,High-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=c606b0119d4a894ebd5ee0242c136e29" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
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|
|
</span>
|
|
</div>
|
|
</div>
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Teeth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypodontia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64969001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64969001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K00.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K00.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020608&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020608</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000668" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000668</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000668" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000668</a>]</span><br /> -
|
|
Malocclusion <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/707598004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">707598004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/47944004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">47944004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024636</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000689" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000689</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000689" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000689</a>]</span><br /> -
|
|
Wide-spaced teeth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844813&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844813</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000687" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000687</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000687" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000687</a>]</span><br /> -
|
|
Large medial incisors <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844814&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844814</a>]</span><br />
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|
|
</span>
|
|
</div>
|
|
</div>
|
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|
|
</div>
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|
</div>
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<div>
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<div>
|
|
<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>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Mitral insufficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48724000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48724000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026266&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026266</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001653" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001653</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001653" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001653</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CHEST </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Features </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pectus excavatum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/391987005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">391987005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/391982004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">391982004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016842&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016842</a>, <a href="https://bioportal.bioontology.org/search?q=C2051831&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2051831</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000767" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000767</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000767" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000767</a>]</span><br /> -
|
|
Pectus carinatum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205101001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205101001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38774000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38774000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.82</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2939416&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2939416</a>, <a href="https://bioportal.bioontology.org/search?q=C0158731&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158731</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000768" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000768</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000768" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000768</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ribs Sternum Clavicles & Scapulae </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short bifid sternum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844805&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844805</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">
|
|
|
|
- Rectal prolapse <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57773001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57773001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K62.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K62.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/569.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">569.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034888</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002035" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002035</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002035" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002035</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">
|
|
|
|
- Inguinal hernia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/396232000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">396232000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K40.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K40.90</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/550" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">550</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019294&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019294</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000023</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000023</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Internal Genitalia (Female) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Uterine prolapse <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/24976005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">24976005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N81.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N81.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/618.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">618.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042140&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042140</a>, <a href="https://bioportal.bioontology.org/search?q=C0553716&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0553716</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000139" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000139</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000139" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000139</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Delayed bone age <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/123983008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">123983008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0541764&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0541764</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002750</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002750</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skull </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Thick calvarium <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1858452&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858452</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002684" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002684</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002684" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002684</a>]</span><br /> -
|
|
Hypoplastic sinuses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844816&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844816</a>]</span><br /> -
|
|
Hypoplastic mastoids <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844817</a>]</span><br /> -
|
|
Delayed closure of anterior fontanel <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/295091000119100" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">295091000119100</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3840083&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3840083</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001476" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001476</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br /> -
|
|
Kyphosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/71311003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">71311003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/414564002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">414564002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413428007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413428007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M40.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M40.20</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q76.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q76.41</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/737.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">737.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265673&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265673</a>, <a href="https://bioportal.bioontology.org/search?q=C0022821&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022821</a>, <a href="https://bioportal.bioontology.org/search?q=C2115817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2115817</a>, <a href="https://bioportal.bioontology.org/search?q=C0022822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022822</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002808</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002808</a>]</span><br /> -
|
|
Lumbar gibbus deformity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844818&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844818</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008454" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008454</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008454" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008454</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Pelvis </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Coxa valga <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33754009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33754009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16979000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16979000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299236004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299236004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q65.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q65.81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.61</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/736.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.31</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158480&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158480</a>, <a href="https://bioportal.bioontology.org/search?q=C0152430&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152430</a>, <a href="https://bioportal.bioontology.org/search?q=C0239137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239137</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002673" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002673</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002673" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002673</a>]</span><br /> -
|
|
Narrow iliac wings <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836688&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836688</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002868" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002868</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002868" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002868</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Forearm fullness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844819&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844819</a>]</span><br /> -
|
|
Extensible joints <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/788453008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">788453008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862377</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001382</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001382</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Large, soft hands <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844821&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844821</a>]</span><br /> -
|
|
Tapering fingers <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249768009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249768009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426886&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426886</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001182" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001182</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001182" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001182</a>]</span><br /> -
|
|
Transverse palmar creases <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248409006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248409006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424731&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424731</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000954" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000954</a>]</span><br /> -
|
|
Hyperextensible fingers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844577&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844577</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001187" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001187</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001187" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001187</a>]</span><br /> -
|
|
Short metacarpals <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837084&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837084</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010049" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010049</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010049" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010049</a>]</span><br /> -
|
|
'Drumstick' terminal phalanges <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844822</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006129" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006129</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Feet </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Flat feet <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/203534009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">203534009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/53226007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">53226007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/734" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">734</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016202&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016202</a>, <a href="https://bioportal.bioontology.org/search?q=C0264133&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0264133</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001763" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001763</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001763" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001763</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Loose skin <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/58588007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">58588007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q82.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q82.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010495&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010495</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000973" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000973</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000973" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000973</a>]</span><br /> -
|
|
Cutis marmorata <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26825009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26825009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0263401&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0263401</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000965" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000965</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000965" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000965</a>]</span><br /> -
|
|
Dependent acrocyanosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844823&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844823</a>]</span><br /> -
|
|
Transverse palmar creases <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248409006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248409006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424731&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424731</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000954" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000954</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nails </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
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- Small fingernails <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856786&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856786</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001804" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001804</a>]</span><br /> -
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Hyperconvex fingernails <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844825&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844825</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001812</a>]</span><br />
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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 style="margin-left: 2em;">
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<span class="mim-font">
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- Straight, coarse hair <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844826&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844826</a>]</span><br />
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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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<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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- Mental retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a>, <a href="https://bioportal.bioontology.org/search?q=C0025362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
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Hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br /> -
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Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
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Ventricular dilatation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/6210001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">6210001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I51.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I51.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278923&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278923</a>, <a href="https://bioportal.bioontology.org/search?q=C0264733&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0264733</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002119</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002119</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> MISCELLANEOUS </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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- Milder expression in female heterozygotes<br /> -
|
|
Clinical features in females include mild mental retardation (80%), short stature (50%), prominent forehead, and coarse facies<br /> -
|
|
Approximately 70-80% of cases are de novo and sporadic<br /> -
|
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Incidence of 1 in 50,000 to 1 in 100,000<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> 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 mutation in the ribosomal protein S6 kinase A3 gene (RPS6KA3, <a href="/entry/300075#0001">300075.0001</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 Coffin-Lowry syndrome (CLS) is caused by mutation in the RSK2 gene (RPS6KA3; <a href="/entry/300075">300075</a>) on chromosome Xp22.</p>
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<div class="mim-changed mim-change"><p>Mutation in the RPS6KA3 gene can also cause nonsyndromic X-linked intellectual developmental disorder-19 (MRX19; <a href="/entry/300844">300844</a>), a milder disorder without skeletal anomalies.</p></div>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<div class="mim-changed mim-change"><p>Coffin-Lowry syndrome (CLS) is a rare X-linked intellectual developmental disorder characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females (<a href="#24" class="mim-tip-reference" title="Kesler, S. R., Simensen, R. J., Voeller, K., Abidi, F., Stevenson, R. E., Schwartz, C. E., Reiss, A. L. <strong>Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome.</strong> Neurogenetics 8: 143-147, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17318637/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17318637</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17318637[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1007/s10048-007-0080-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17318637">Kesler et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17318637" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p></div>
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<p><a href="#19" class="mim-tip-reference" title="Hendrich, B., Bickmore, W. <strong>Human diseases with underlying defects in chromatin structure and modification.</strong> Hum. Molec. Genet. 10: 2233-2242, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11673406/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11673406</a>] [<a href="https://doi.org/10.1093/hmg/10.20.2233" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11673406">Hendrich and Bickmore (2001)</a> reviewed human disorders which share in common defects of chromatin structure or modification, including the ATR-X spectrum of disorders (<a href="/entry/301040">301040</a>), ICF syndrome (<a href="/entry/242860">242860</a>), Rett syndrome (<a href="/entry/312750">312750</a>), Rubinstein-Taybi syndrome (<a href="/entry/180849">180849</a>), and Coffin-Lowry syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11673406" 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="#39" class="mim-tip-reference" title="Pereira, P. M., Schneider, A., Pannetier, S., Heron, D., Hanauer, A. <strong>Coffin-Lowry syndrome.</strong> Europ. J. Hum. Genet. 18: 627-633, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19888300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19888300</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19888300[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2009.189" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19888300">Pereira et al. (2010)</a> provided a review of Coffin-Lowry syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19888300" 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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</div>
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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>
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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>As described by <a href="#4" class="mim-tip-reference" title="Coffin, G. S., Siris, E., Wegienka, L. C. <strong>Mental retardation with osteocartilaginous anomalies.</strong> Am. J. Dis. Child. 112: 205-213, 1966."None>Coffin et al. (1966)</a> in 2 unrelated adolescent boys, the features of CLS are mental retardation with peculiar pugilistic nose, large ears, tapered fingers, drumstick terminal phalanges by x-ray, and pectus carinatum. The occurrence of minor manifestations in female relatives suggested a genetic basis. <a href="#40" class="mim-tip-reference" title="Procopis, P. G., Turner, B. <strong>Mental retardation, abnormal fingers, and skeletal anomalies: Coffin's syndrome.</strong> Am. J. Dis. Child. 124: 258-261, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5052411/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5052411</a>] [<a href="https://doi.org/10.1001/archpedi.1972.02110140108016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5052411">Procopis and Turner (1972)</a> reported a family in which 4 brothers had the full syndrome and several female relatives had abnormal fingers and mild mental retardation. X-linked dominant inheritance was likely. <a href="#26" class="mim-tip-reference" title="Lowry, R. B., Miller, J. R., Fraser, F. C. <strong>A new dominant gene mental retardation syndrome: associated with small stature, tapering fingers, characteristic facies, and possible hydrocephalus.</strong> Am. J. Dis. Child. 121: 496-500, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5581017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5581017</a>]" pmid="5581017">Lowry et al. (1971)</a> described a new mental retardation syndrome with small stature, retardation of bone age, hypotonia, tapering fingers, and facies characterized by hypertelorism, anteverted nares, and prominent frontal region. Arrested hydrocephalus may also be a feature. The disorder was transmitted through 3 generations, with no instance of male-to-male transmission. <a href="#43" class="mim-tip-reference" title="Temtamy, S. A., Miller, J. D., Hussels-Maumenee, I. <strong>The Coffin-Lowry syndrome: an inherited facio-digital mental retardation syndrome.</strong> J. Pediat. 86: 724-731, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1133653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1133653</a>] [<a href="https://doi.org/10.1016/s0022-3476(75)80357-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1133653">Temtamy et al. (1975)</a> deserve credit for demonstrating that the syndromes described by Coffin and Lowry as separate entities are in fact the same, a rare experience in medical genetics where separation of entities with similar phenotype is much more frequent. The appearance of the hands with bulbous tapering fingers was striking in their family. Affected males showed patulous lips and large mouths. Kenyon (reported by <a href="#43" class="mim-tip-reference" title="Temtamy, S. A., Miller, J. D., Hussels-Maumenee, I. <strong>The Coffin-Lowry syndrome: an inherited facio-digital mental retardation syndrome.</strong> J. Pediat. 86: 724-731, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1133653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1133653</a>] [<a href="https://doi.org/10.1016/s0022-3476(75)80357-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1133653">Temtamy et al., 1975</a>) found electron microscopic changes in fibroblasts, viz., single-membrane-limited inclusions. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5052411+1133653+5581017" 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>At least superficial similarity of the facies to that of Williams syndrome (<a href="/entry/194050">194050</a>) is evident in the photographs published by <a href="#21" class="mim-tip-reference" title="Hunter, A. G. W., Partington, M. W., Evans, J. A. <strong>The Coffin-Lowry syndrome: experience from four centres.</strong> Clin. Genet. 21: 321-335, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7116677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7116677</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1982.tb01379.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7116677">Hunter et al. (1982)</a>. <a href="#21" class="mim-tip-reference" title="Hunter, A. G. W., Partington, M. W., Evans, J. A. <strong>The Coffin-Lowry syndrome: experience from four centres.</strong> Clin. Genet. 21: 321-335, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7116677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7116677</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1982.tb01379.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7116677">Hunter et al. (1982)</a> found no evidence of a primary disorder of lysosomes in their patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7116677" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Hersh, J. H., Weisskopf, B., DeCoster, C. <strong>Forearm fullness in Coffin-Lowry syndrome: a misleading yet possible early diagnostic clue.</strong> Am. J. Med. Genet. 18: 195-199, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6465196/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6465196</a>] [<a href="https://doi.org/10.1002/ajmg.1320180203" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6465196">Hersh et al. (1984)</a> were impressed with marked fullness of the forearms as an early sign of Coffin-Lowry syndrome. The bones were normal, the fullness being due to increased subcutaneous fat. They also illustrated broad proximal part of the fingers with distal tapering in both affected males and heterozygotes. The hands in the infants have a puffy appearance. <a href="#49" class="mim-tip-reference" title="Young, I. D. <strong>The Coffin-Lowry syndrome.</strong> J. Med. Genet. 25: 344-348, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3290491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3290491</a>] [<a href="https://doi.org/10.1136/jmg.25.5.344" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3290491">Young (1988)</a> pictured the facial features of 2 pairs of brothers and a pair of sisters with this disorder. One of the brothers had severe kyphoscoliosis. <a href="#45" class="mim-tip-reference" title="Vine, D. T., Gold, J. T., Grant, A. D. <strong>Etiology of the weakness in Coffin-Lowry syndrome. (Abstract)</strong> Am. J. Hum. Genet. 39: A85, 1986."None>Vine et al. (1986)</a> cited evidence that there is proteodermatan sulfate storage in CLS. They further suggested that weakness in this disorder is neurogenic rather than myopathic in origin, consistent with a lysosomal storage disease. <a href="#12" class="mim-tip-reference" title="Gilgenkrantz, S., Mujica, P., Gruet, P., Tridon, P., Schweitzer, F., Nivelon-Chevallier, A., Nivelon, J. L. <strong>Couillault, G.; David, A.; Verloes, A.; Lambotte, C.; Piussan, C. and Mathieu, M.: Coffin-Lowry syndrome: a multicenter study.</strong> Clin. Genet. 34: 230-245, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3069251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3069251</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1988.tb02870.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3069251">Gilgenkrantz et al. (1988)</a> described in detail 7 families from 5 European centers. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6465196+3069251+3290491" 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="#27" class="mim-tip-reference" title="Machin, G. A., Walther, G. L., Fraser, V. M. <strong>Autopsy findings in two adult siblings with Coffin-Lowry syndrome.</strong> Am. J. Med. Genet. Suppl. 3: 303-309, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3130866/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3130866</a>] [<a href="https://doi.org/10.1002/ajmg.1320280536" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3130866">Machin et al. (1987)</a> reported the pathologic findings in a sister and brother who died at ages 28 and 22, respectively. Visceral neuropathy was found as the basis of extensive intestinal diverticular disease. Mitral regurgitation, resulting from fused and shortened chordae tendineae, and panacinar emphysema were also found. <a href="#29" class="mim-tip-reference" title="Massin, M. M., Radermecker, M. A., Verloes, A., Jacquot, S., Grenade, T. <strong>Cardiac involvement in Coffin-Lowry syndrome.</strong> Acta Paediat. 88: 468-470, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10342551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10342551</a>] [<a href="https://doi.org/10.1080/08035259950169909" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10342551">Massin et al. (1999)</a> described recurrent episodes of congestive heart failure from at least the age of 8 years in a boy with Coffin-Lowry syndrome. Surgical repair was performed on the mitral valves. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10342551+3130866" 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="#34" class="mim-tip-reference" title="Miyazaki, K., Yamanaka, T., Ishida, Y., Oohira, A. <strong>Calcified ligamenta flava in a patient with Coffin-Lowry syndrome: biochemical analysis of glycosaminoglycans.</strong> Jpn. J. Hum. Genet. 35: 215-221, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2398636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2398636</a>] [<a href="https://doi.org/10.1007/BF01876467" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2398636">Miyazaki et al. (1990)</a> described calcification of the ligamenta flava which led to marked narrowing of the cervical spinal canal with resulting cervical radiculomyelopathy. Biochemical analyses suggested that an alteration in glycosaminoglycan metabolism was a pathogenetic factor in calcification of ligamenta flava. In 3 males in their twenties who had Coffin-Lowry syndrome, <a href="#23" class="mim-tip-reference" title="Ishida, Y., Oki, T., Ono, Y., Nogami, H. <strong>Coffin-Lowry syndrome associated with calcium pyrophosphate crystal deposition in the ligamenta flava.</strong> Clin. Orthop. Relat. Res. 275: 144-151, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1735205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1735205</a>]" pmid="1735205">Ishida et al. (1992)</a> observed myelopathy caused by calcification of the ligamentum flavum as a result of calcium pyrophosphate dihydrate crystal deposition disease (<a href="/entry/118600">118600</a>). This was interpreted as further evidence that a metabolic abnormality in collagen and in proteoglycans is present in CLS. They emphasized and illustrated the peculiar stooped posture and striking cervical lordosis in these cases as well as the changes in the fingers and the thick lips. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2398636+1735205" 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="#16" class="mim-tip-reference" title="Hartsfield, J. K., Jr., Hall, B. D., Grix, A. W., Kousseff, B. G., Salazar, J. F., Haufe, S. M. W. <strong>Pleiotropy in Coffin-Lowry syndrome: sensorineural hearing deficit and premature tooth loss as early manifestations.</strong> Am. J. Med. Genet. 45: 552-557, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7681250/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7681250</a>] [<a href="https://doi.org/10.1002/ajmg.1320450505" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7681250">Hartsfield et al. (1993)</a> reported on 7 patients with CLS who had sensorineural hearing deficit. One of the patients also had premature exfoliation of primary teeth. <a href="#42" class="mim-tip-reference" title="Sivagamasundari, U., Fernando, H., Jardine, P., Rao, J. M., Lunt, P., Jayewardene, S. L. W. <strong>The association between Coffin-Lowry syndrome and psychosis: a family study.</strong> J. Intellect. Disabil. Res. 38: 469-473, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7841685/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7841685</a>] [<a href="https://doi.org/10.1111/j.1365-2788.1994.tb00436.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7841685">Sivagamasundari et al. (1994)</a> presented 3-generation pedigrees that segregated Coffin-Lowry syndrome with 2 mildly affected females and 3 severely affected males. Both mildly affected females had depressive psychosis and all 3 severely affected males had sensorineural deafness. The authors wondered if the depressive psychosis was coincidental or related. They referred to 2 previous reports of depressive psychosis in 2 other females in Coffin-Lowry pedigrees reported by <a href="#37" class="mim-tip-reference" title="Partington, M. W., Mulley, J. C., Sutherland, G. R., Thode, A., Turner, G. <strong>A family with the Coffin Lowry syndrome revisited: localization of CLS to Xp21-pter.</strong> Am. J. Med. Genet. 30: 509-521, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3177468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3177468</a>] [<a href="https://doi.org/10.1002/ajmg.1320300153" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3177468">Partington et al. (1988)</a> and <a href="#18" class="mim-tip-reference" title="Haspeslagh, M., Fryns, J. P., Beusen, L., Van Dessel, F., Vinken, L., Moens, E., Van Den Berghe, H. <strong>The Coffin-Lowry syndrome: a study of two new index patients and their families.</strong> Europ. J. Pediat. 143: 82-86, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6519116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6519116</a>] [<a href="https://doi.org/10.1007/BF00445790" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6519116">Haspeslagh et al. (1984)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7841685+7681250+6519116+3177468" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#35" class="mim-tip-reference" title="Nakamura, M., Yamagata, T., Momoi, M. Y., Yamazaki, T. <strong>Drop episodes in Coffin-Lowry syndrome: exaggerated startle responses treated with clonazepam.</strong> Pediat. Neurol. 19: 148-150, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9744638/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9744638</a>] [<a href="https://doi.org/10.1016/s0887-8994(98)00029-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9744638">Nakamura et al. (1998)</a> described a 16-year-old girl with fully manifested CLS and drop episodes. The patient experienced instantaneous loss of muscle tone in her legs as a result of sudden unexpected tactile or auditory stimuli. This may represent an unusual type of startle response associated with CLS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9744638" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#22" class="mim-tip-reference" title="Hunter, A. G. W. <strong>Coffin-Lowry syndrome: a 20-year follow-up and review of long-term outcomes.</strong> Am. J. Med. Genet. 111: 345-355, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12210291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12210291</a>] [<a href="https://doi.org/10.1002/ajmg.10574" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12210291">Hunter (2002)</a> provided a 20-year follow-up of the 6 affected patients with Coffin-Lowry syndrome and 1 carrier mother reported by <a href="#21" class="mim-tip-reference" title="Hunter, A. G. W., Partington, M. W., Evans, J. A. <strong>The Coffin-Lowry syndrome: experience from four centres.</strong> Clin. Genet. 21: 321-335, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7116677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7116677</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1982.tb01379.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7116677">Hunter et al. (1982)</a>. <a href="#22" class="mim-tip-reference" title="Hunter, A. G. W. <strong>Coffin-Lowry syndrome: a 20-year follow-up and review of long-term outcomes.</strong> Am. J. Med. Genet. 111: 345-355, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12210291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12210291</a>] [<a href="https://doi.org/10.1002/ajmg.10574" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12210291">Hunter (2002)</a> also summarized the clinically important complications that have been reported in patients with Coffin-Lowry syndrome: premature death, often from cardiovascular complications; progressive kyphoscoliosis which may compromise mobility and cardiorespiratory status; spinal stenosis, which may cause neurologic symptoms; and drop attacks, which may be mistaken for seizures. Abnormalities in dentition, hearing loss, and ocular abnormalities were noted, as was a suggested excess of psychiatric illness in carrier females. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7116677+12210291" 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="#41" class="mim-tip-reference" title="Simensen, R. J., Abidi, F., Collins, J. S., Schwartz, C. E., Stevenson, R. E. <strong>Cognitive function in Coffin-Lowry syndrome.</strong> Clin. Genet. 61: 299-304, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12030896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12030896</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2002.610410.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12030896">Simensen et al. (2002)</a> studied cognitive function in affected members of 2 African American families in which CLS was caused by a 340C-T transition in the RSK2 gene (<a href="/entry/300075#0006">300075.0006</a>). The subjects included 6 affected males, 7 carrier females, 3 normal males, and 3 noncarrier (normal) females. Unaffected family members served as contrast/comparison cohorts to control for socioeconomic, sociocultural, and genetic variables that might impinge on intellectual abilities. The mean composite IQs of the cohorts were 90.8, 65.0, and 43.2 for normal, carrier, and affected individuals, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12030896" 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="#11" class="mim-tip-reference" title="Fryssira, H., Kountoupi, S., Delaunoy, J. P., Thomaidis, L. <strong>A female with Coffin-Lowry syndrome and 'cataplexy'.</strong> Genet. Counsel. 13: 405-409, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12558110/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12558110</a>]" pmid="12558110">Fryssira et al. (2002)</a> described a female patient with full-blown CLS, manifested by facial dysmorphism, tapering fingers, and skeletal deformities (pectus excavatum and kyphoscoliosis), who was found to have a splice site mutation of the RSK2 gene (<a href="/entry/300075#0015">300075.0015</a>). Her overall IQ was 53. At the age of 9 years, there was onset of a cataplexy-like phenomenon characterized by a sudden and reversible loss of muscle tone without loss of consciousness. Cataplexy was described in CLS by <a href="#9" class="mim-tip-reference" title="Fryns, J. P., Smeets, E. <strong>'Cataplexy' in Coffin-Lowry syndrome.</strong> J. Med. Genet. 35: 702 only, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9719387/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9719387</a>] [<a href="https://doi.org/10.1136/jmg.35.8.702" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9719387">Fryns and Smeets (1998)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9719387+12558110" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Facher, J. J., Regier, E. J., Jacobs, G. H., Siwik, E., Delaunoy, J.-P., Robin, N. H. <strong>Cardiomyopathy in Coffin-Lowry syndrome.</strong> Am. J. Med. Genet. 128A: 176-178, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15214012/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15214012</a>] [<a href="https://doi.org/10.1002/ajmg.a.30056" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15214012">Facher et al. (2004)</a> described a 14-year-old boy with physical and developmental findings consistent with Coffin-Lowry syndrome in whom they identified a 3-bp deletion at nucleotide 1428 of the RSK2 gene (<a href="/entry/300075#0018">300075.0018</a>). The patient was unusual in that he presented with a relatively sudden onset of signs of congestive heart failure due to a restrictive cardiomyopathy; endomyocardial biopsy demonstrated nonspecific hypertrophic myocyte alterations consistent with cardiomyopathy. The authors stated that this was the first documented case of restrictive cardiomyopathy in Coffin-Lowry syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15214012" 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="#47" class="mim-tip-reference" title="Wang, Y., Martinez, J. E., Wilson, G. L., He, X.-Y., Tuck-Miller, C. M., Maertens, P., Wertelecki, W., Chen, T.-J. <strong>A novel RSK2 (RPS6KA3) gene mutation associated with abnormal brain MRI findings in a family with Coffin-Lowry syndrome.</strong> Am. J. Med. Genet. 140A: 1274-1279, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16691578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16691578</a>] [<a href="https://doi.org/10.1002/ajmg.a.31266" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16691578">Wang et al. (2006)</a> reported a woman with CLS who had 2 affected daughters and 1 affected son. All had moderate to severe mental retardation with the typical CLS phenotype. Brain MRI studies on the 3 children showed abnormalities in the deep subcortical white matter, thinning of the corpus callosum, hypoplastic cerebellar vermis, and asymmetry of the lateral ventricles. The degree of severity of the MRI findings correlated with the severity of mental retardation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16691578" 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="#24" class="mim-tip-reference" title="Kesler, S. R., Simensen, R. J., Voeller, K., Abidi, F., Stevenson, R. E., Schwartz, C. E., Reiss, A. L. <strong>Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome.</strong> Neurogenetics 8: 143-147, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17318637/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17318637</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17318637[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1007/s10048-007-0080-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17318637">Kesler et al. (2007)</a> examined brain morphology in 2 families with CLS. One family included a 32-year-old carrier mother and her 2 affected sons aged 9 and 11 years; the second family included 7-year-old carrier female twins and a 4-year-old affected male. All individuals with CLS demonstrated significantly decreased total brain volumes compared to age-matched controls. The most affected areas were the temporal lobe, cerebellum, and hippocampus, with individuals having either disproportionately enlarged or reduced volumes of these regions. <a href="#24" class="mim-tip-reference" title="Kesler, S. R., Simensen, R. J., Voeller, K., Abidi, F., Stevenson, R. E., Schwartz, C. E., Reiss, A. L. <strong>Altered neurodevelopment associated with mutations of RSK2: a morphometric MRI study of Coffin-Lowry syndrome.</strong> Neurogenetics 8: 143-147, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17318637/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17318637</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17318637[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1007/s10048-007-0080-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17318637">Kesler et al. (2007)</a> interpreted the findings as evidence of altered early neurodevelopment and disruptions in neuronal organization and plasticity in patients with CLS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17318637" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Clinical Variability</em></strong></p><p>
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<a href="#28" class="mim-tip-reference" title="Manouvrier-Hanu, S., Amiel, J., Jacquot, S., Merienne, K., Moerman, A., Coeslier, A., Labarriere, F., Vallee, L., Croquette, M. F., Hanauer, A. <strong>Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome.</strong> J. Med. Genet. 36: 775-778, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10528858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10528858</a>] [<a href="https://doi.org/10.1136/jmg.36.10.775" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10528858">Manouvrier-Hanu et al. (1999)</a> reported 2 male sibs with a mild form of CLS who had a missense mutation in exon 7 of the RSK gene (<a href="/entry/300075#0011">300075.0011</a>). The phenotype was unusual in that the degree of mental retardation and other features was milder than had been reported. Both boys had hypotonia, macrocephaly, telecanthus, and broad great toes; in addition, one boy had pigmentary abnormalities, and the other had an anteriorly placed anus. In light of these findings, the diagnosis of FG syndrome (<a href="/entry/305450">305450</a>) was considered. As the boys grew, macrocephaly decreased, forearm fullness and tapering fingers were more obvious, and the facies coarsened with anteverted nares and everted lower lip, leading to the consideration of the diagnosis of CLS. This diagnosis was confirmed by mutation analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10528858" 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="#33" class="mim-tip-reference" title="Merienne, K., Jacquot, S., Trivier, E., Pannetier, S., Rossi, A., Scott, C., Schinzel, A., Castellan, C., Kress, W., Hanauer, A. <strong>Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome.</strong> J. Med. Genet. 35: 890-894, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9832033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9832033</a>] [<a href="https://doi.org/10.1136/jmg.35.11.890" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9832033">Merienne et al. (1998)</a> evaluated both immunoblot and RSK2 kinase assays as diagnostic tests for Coffin-Lowry syndrome using cultured lymphoblastoid or fibroblast cell lines. Western blot analysis failed to detect RSK2 protein in 6 patients, suggesting the presence of truncated proteins. This conclusion was confirmed in 4 patients, in whom the causative mutations, all leading to premature termination of translation, were identified. Of 4 patients showing normal amounts of RSK2 protein on Western blot and tested for RSK2 phosphotransferase activity, 1 had impaired activity. Analysis of RSK2 cDNA sequence in this patient showed a mutation of a putative phosphorylation site that would be critical for RSK2 activity. <a href="#33" class="mim-tip-reference" title="Merienne, K., Jacquot, S., Trivier, E., Pannetier, S., Rossi, A., Scott, C., Schinzel, A., Castellan, C., Kress, W., Hanauer, A. <strong>Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome.</strong> J. Med. Genet. 35: 890-894, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9832033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9832033</a>] [<a href="https://doi.org/10.1136/jmg.35.11.890" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9832033">Merienne et al. (1998)</a> concluded that both assays were reliable and rapid methods for diagnosis of Coffin-Lowry syndrome, and that, at least, the Western blot analysis could be used directly on lymphocyte protein extracted directly from blood samples. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9832033" 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>Hanauer et al. (<a href="#15" class="mim-tip-reference" title="Hanauer, A., Alembik, Y., Mujica, P., Nivelon-Chevallier, A., Gilgenkrantz, S., Mandel, J. L. <strong>Probable localisation of the Coffin-Lowry locus (CLS) in Xp22.2-p22.1 by multipoint linkage analysis. (Abstract)</strong> Cytogenet. Cell Genet. 46: 626, 1987."None>1987</a>, <a href="#14" class="mim-tip-reference" title="Hanauer, A., Alembik, Y., Gilgenkrantz, S., Mujica, P., Nivelon-Chevallier, A., Pembrey, M. E., Young, I. D., Mandel, J. L. <strong>Probable localisation of the Coffin-Lowry locus in Xp22.2-p22.1 by multipoint linkage analysis.</strong> Am. J. Med. Genet. 30: 523-530, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3177469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3177469</a>] [<a href="https://doi.org/10.1002/ajmg.1320300154" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3177469">1988</a>) found linkage of CLS to DNA markers on Xp, suggesting that the CLS locus may be situated in the Xp22.3-p22.1 region. The multipoint lod score was 2.2 at theta = 0.0 for linkage with 2 markers in this region. <a href="#37" class="mim-tip-reference" title="Partington, M. W., Mulley, J. C., Sutherland, G. R., Thode, A., Turner, G. <strong>A family with the Coffin Lowry syndrome revisited: localization of CLS to Xp21-pter.</strong> Am. J. Med. Genet. 30: 509-521, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3177468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3177468</a>] [<a href="https://doi.org/10.1002/ajmg.1320300153" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3177468">Partington et al. (1988)</a> restudied the family first reported by <a href="#40" class="mim-tip-reference" title="Procopis, P. G., Turner, B. <strong>Mental retardation, abnormal fingers, and skeletal anomalies: Coffin's syndrome.</strong> Am. J. Dis. Child. 124: 258-261, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5052411/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5052411</a>] [<a href="https://doi.org/10.1001/archpedi.1972.02110140108016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5052411">Procopis and Turner (1972)</a>. They found that there were now 12 affected members in 3 generations. They examined 9 of them personally and concluded that the CLS locus is distal to DMD. <a href="#1" class="mim-tip-reference" title="Biancalana, V., Briard, M. L., David, A., Gilgenkrantz, S., Kaplan, J., Mathieu, M., Piussan, C., Poncin, J., Schinzel, A., Oudet, C., Hanauer, A. <strong>Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2.</strong> Am. J. Hum. Genet. 50: 981-987, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1349200/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1349200</a>]" pmid="1349200">Biancalana et al. (1992)</a> extended their studies to 16 families, using 7 RFLP markers spanning the Xp22.2-p22.1 region. A multipoint linkage analysis placed the CLS locus, with a maximum multipoint lod score of 7.30, within a 7-cM interval defined by a cluster of tightly linked markers, DXS207-DXS43-DXS197, on the distal side and by DXS274 on the proximal side. No evidence of linkage heterogeneity was detected. <a href="#2" class="mim-tip-reference" title="Biancalana, V., Trivier, E., Weber, C., Weissenbach, J., Rowe, P. S. N., O'Riordan, J. L. H., Partington, M. W., Heyberger, S., Oudet, C., Hanauer, A. <strong>Construction of a high-resolution linkage map for Xp22.1-p22.2 and refinement of the genetic localization of the Coffin-Lowry syndrome gene.</strong> Genomics 22: 617-625, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8001973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8001973</a>] [<a href="https://doi.org/10.1006/geno.1994.1435" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8001973">Biancalana et al. (1994)</a> defined the genetic localization of the CLS gene by construction of a high-resolution linkage map. The study permitted them to refine the localization of 5 other genes in that region. Crossover analysis in a British family suggested to <a href="#3" class="mim-tip-reference" title="Bird, H., Collins, A. L., Oley, C., Lindsay, S. <strong>Crossover analysis in a British family suggests that Coffin-Lowry syndrome maps to a 3.4-cM interval in Xp22.</strong> Am. J. Med. Genet. 59: 512-516, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8585574/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8585574</a>] [<a href="https://doi.org/10.1002/ajmg.1320590420" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8585574">Bird et al. (1995)</a> that the CLS locus is in a region of approximately 3.4 cM in Xp22 with DXS365 as the closest proximal flanking marker identified to date. Features of the face and distally tapering fingers were demonstrated with photographs. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1349200+3177468+3177469+8585574+5052411+8001973" 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="#44" class="mim-tip-reference" title="Trivier, E., De Cesare, D., Jacquot, S., Pannetier, S., Zackai, E., Young, I., Mandel, J.-L., Sassone-Corsi, P., Hanauer, A. <strong>Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome.</strong> Nature 384: 567-570, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8955270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8955270</a>] [<a href="https://doi.org/10.1038/384567a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8955270">Trivier et al. (1996)</a> demonstrated deletion, nonsense, and missense mutations of the RSK2 gene in patients with CLS. The gene is located within an interval of approximately 3 cM, between DXS365 and DXS7161, on Xp22.3 where the CLS gene had been located. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8955270" 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="#31" class="mim-tip-reference" title="McCandless, S. E., Schwartz, S., Morrison, S., Garlapati, K., Robin, N. H. <strong>Adult with an interstitial deletion of chromosome 10 [del(10)(q25.1q25.3)]: overlap with Coffin-Lowry syndrome.</strong> Am. J. Med. Genet. 95: 93-98, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11078556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11078556</a>] [<a href="https://doi.org/10.1002/1096-8628(20001113)95:2<93::aid-ajmg1>3.0.co;2-b" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11078556">McCandless et al. (2000)</a> reported a man with features of Coffin-Lowry syndrome, including severe mental retardation, short stature, coarse facies, patulous lips, and characteristic radiographic hand findings, with a cytogenetic deletion of chromosome 10, 46,XY,del(10)(q25.1q25.3). Since the RSK2 gene is part of a gene family implicated in cell cycle regulation through the mitogen-activated protein kinase cascade (see MAPK11; <a href="/entry/602898">602898</a>), the authors suggested that a gene involved in MAPK signaling may be present in the deleted region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11078556" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Delaunoy, J. P., Dubos, A., Pereira, P. M., Hanauer, A. <strong>Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.</strong> Clin. Genet. 70: 161-166, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16879200/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16879200</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2006.00660.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16879200">Delaunoy et al. (2006)</a> analyzed the RPS6KA3 gene in 120 patients with CLS and identified 45 mutations, of which 44 were novel, confirming the high rate of new mutations at the RSK2 locus. The authors noted that no mutation was found in over 60% of the patients referred to them for screening. <a href="#6" class="mim-tip-reference" title="Delaunoy, J. P., Dubos, A., Pereira, P. M., Hanauer, A. <strong>Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome.</strong> Clin. Genet. 70: 161-166, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16879200/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16879200</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2006.00660.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16879200">Delaunoy et al. (2006)</a> stated that of the 128 CLS mutations reported to date, 33% are missense mutations, 15% nonsense mutations, 20% splicing errors, and 29% short deletion or insertion events; and 4 large deletions have been reported. The mutations are distributed throughout the RPS6KA3 gene, and most mutations are private. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16879200" 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 1.5-year-old boy with a clinical phenotype highly suggestive of CLS in whom no mutation had been identified by sequencing PCR-amplified exons of RPS6KA3 from genomic DNA, <a href="#38" class="mim-tip-reference" title="Pereira, P. M., Heron, D., Hanauer, A. <strong>The first large duplication of the RSK2 gene identified in a Coffin-Lowry syndrome patient.</strong> Hum. Genet. 122: 541-543, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17717706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17717706</a>] [<a href="https://doi.org/10.1007/s00439-007-0424-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17717706">Pereira et al. (2007)</a> analyzed the gene by directly sequencing RSK2 cDNA and identified a tandem duplication of exons 17 to 20 (<a href="/entry/300075#0019">300075.0019</a>). The authors stated that this was the first reported large duplication in the RPS6KA3 gene, and noted that immunoblot analysis or a molecular assay capable of detecting large genomic events is essential for the definitive diagnosis of CLS when exon screening fails to detect a mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17717706" 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 cells derived from an affected member of the original family with Coffin-Lowry syndrome reported by <a href="#26" class="mim-tip-reference" title="Lowry, R. B., Miller, J. R., Fraser, F. C. <strong>A new dominant gene mental retardation syndrome: associated with small stature, tapering fingers, characteristic facies, and possible hydrocephalus.</strong> Am. J. Dis. Child. 121: 496-500, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5581017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5581017</a>]" pmid="5581017">Lowry et al. (1971)</a>, <a href="#36" class="mim-tip-reference" title="Nishimoto, H. K., Ha, K., Jones, J. R., Dwivedi, A., Cho, H.-M., Layman, L. C., Kim, H.-G. <strong>The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients.</strong> Am. J. Med. Genet. 164A: 2172-2179, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25044551/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25044551</a>] [<a href="https://doi.org/10.1002/ajmg.a.36488" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25044551">Nishimoto et al. (2014)</a> identified an in-frame deletion in the RPS6KA3 gene (<a href="/entry/300075#0022">300075.0022</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=25044551+5581017" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The level of residual RPS6KA3 activity seems to be related to the severity of the phenotype. <a href="#32" class="mim-tip-reference" title="Merienne, K., Jacquot, S., Pannetier, S., Zeniou, M., Bankier, A., Gecz, J., Mandel, J.-L., Mulley, J., Sassone-Corsi, P., Hanauer, A. <strong>A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation. (Letter)</strong> Nature Genet. 22: 13-14, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10319851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10319851</a>] [<a href="https://doi.org/10.1038/8719" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10319851">Merienne et al. (1999)</a> demonstrated 10 to 20% residual enzymatic activity in patients with nonsyndromic X-linked mental retardation (MRX19; <a href="/entry/300844">300844</a>), which was postulated to result in the relatively mild phenotype without skeletal anomalies (<a href="/entry/300075#0010">300075.0010</a>). The patients reported by <a href="#8" class="mim-tip-reference" title="Field, M., Tarpey, P., Boyle, J., Edkins, S., Goodship, J., Luo, Y., Moon, J., Teague, J., Stratton, M. R., Futreal, P. A., Wooster, R., Raymond, F. L., Turner, G. <strong>Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.</strong> Clin. Genet. 70: 509-515, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17100996/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17100996</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17100996[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2006.00723.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17100996">Field et al. (2006)</a> with nonsyndromic X-linked mental retardation also had a milder phenotype, which they thought likely resulted from residual protein activity. <a href="#8" class="mim-tip-reference" title="Field, M., Tarpey, P., Boyle, J., Edkins, S., Goodship, J., Luo, Y., Moon, J., Teague, J., Stratton, M. R., Futreal, P. A., Wooster, R., Raymond, F. L., Turner, G. <strong>Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.</strong> Clin. Genet. 70: 509-515, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17100996/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17100996</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17100996[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2006.00723.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17100996">Field et al. (2006)</a> noted that the mutations (see, e.g., <a href="/entry/300075#0020">300075.0020</a>-<a href="/entry/300075#0021">300075.0021</a>) in their report and the mutation (<a href="/entry/300075#0011">300075.0011</a>) reported by <a href="#28" class="mim-tip-reference" title="Manouvrier-Hanu, S., Amiel, J., Jacquot, S., Merienne, K., Moerman, A., Coeslier, A., Labarriere, F., Vallee, L., Croquette, M. F., Hanauer, A. <strong>Unreported RSK2 missense mutation in two male sibs with an unusually mild form of Coffin-Lowry syndrome.</strong> J. Med. Genet. 36: 775-778, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10528858/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10528858</a>] [<a href="https://doi.org/10.1136/jmg.36.10.775" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10528858">Manouvrier-Hanu et al. (1999)</a> in a family with mild Coffin-Lowry syndrome were small in-frame deletions or missense mutations affecting the serine/threonine kinase domain. <a href="#8" class="mim-tip-reference" title="Field, M., Tarpey, P., Boyle, J., Edkins, S., Goodship, J., Luo, Y., Moon, J., Teague, J., Stratton, M. R., Futreal, P. A., Wooster, R., Raymond, F. L., Turner, G. <strong>Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.</strong> Clin. Genet. 70: 509-515, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17100996/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17100996</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17100996[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2006.00723.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17100996">Field et al. (2006)</a> hypothesized that the presence of a small amount of residual enzymatic activity may be sufficient to maintain normal osteoblast differentiation and ameliorate the skeletal phenotype associated with CLS. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10528858+17100996+10319851" 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="Harum, K. H., Alemi, L., Johnston, M. V. <strong>Cognitive impairment in Coffin-Lowry syndrome correlates with reduced RSK2 activation.</strong> Neurology 56: 207-214, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11160957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11160957</a>] [<a href="https://doi.org/10.1212/wnl.56.2.207" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11160957">Harum et al. (2001)</a> noted that, based on evidence from experimental models, the transcription factor cAMP response element-binding protein (CREB; <a href="/entry/123810">123810</a>) is thought to be involved in memory formation. RSK2 activates CREB through phosphorylation at serine-133. In 7 patients with Coffin-Lowry syndrome (5 boys and 2 girls), <a href="#17" class="mim-tip-reference" title="Harum, K. H., Alemi, L., Johnston, M. V. <strong>Cognitive impairment in Coffin-Lowry syndrome correlates with reduced RSK2 activation.</strong> Neurology 56: 207-214, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11160957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11160957</a>] [<a href="https://doi.org/10.1212/wnl.56.2.207" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11160957">Harum et al. (2001)</a> found a diminished activity of RSK2 to phosphorylate a CREB-like peptide in vitro in all cells lines. The authors noted a linear correlation between RSK2 activation of CREB and cognitive levels of the patients, consistent with the hypothesis that CREB is involved in human learning and memory. Other characteristics of the syndrome, including facial and bony abnormalities, may be due to impaired expression of various CREB-responsive genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11160957" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The estimated incidence of Coffin-Lowry syndrome is 1 in 50,000 to 1 in 100,000, and about 70 to 80% of patients are sporadic cases (<a href="#39" class="mim-tip-reference" title="Pereira, P. M., Schneider, A., Pannetier, S., Heron, D., Hanauer, A. <strong>Coffin-Lowry syndrome.</strong> Europ. J. Hum. Genet. 18: 627-633, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19888300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19888300</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19888300[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2009.189" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19888300">Pereira et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19888300" 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="#30" class="mim-tip-reference" title="Mattei, J. F., Laframboise, R., Rouault, F., Giraud, F. <strong>Coffin-Lowry syndrome in sibs.</strong> Am. J. Med. Genet. 8: 315-319, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7234901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7234901</a>] [<a href="https://doi.org/10.1002/ajmg.1320080310" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7234901">Mattei et al. (1981)</a> reported 2 sisters with Coffin-Lowry syndrome; however, as noted by <a href="#13" class="mim-tip-reference" title="Gorlin, R. J. <strong>Lapsus--caveat emptor: Coffin-Lowry syndrome vs Coffin-Siris syndrome--an example of confusion compounded. (Letter)</strong> Am. J. Med. Genet. 10: 103-104, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7294058/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7294058</a>] [<a href="https://doi.org/10.1002/ajmg.1320100113" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7294058">Gorlin (1981)</a>, these sisters actually had Coffin-Siris syndrome (<a href="/entry/135900">135900</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7234901+7294058" 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="#Collacott1987" class="mim-tip-reference" title="Collacott, R. A., Warrington, J. S., Young, I. D. <strong>Coffin-Lowry syndrome and schizophrenia: a family report.</strong> J. Ment. Defic. Res. 31: 199-207, 1987.">Collacott et al. (1987)</a>; <a href="#Fryns1977" class="mim-tip-reference" title="Fryns, J. P., Vinken, L., van den Berghe, H. <strong>The Coffin syndrome.</strong> Hum. Genet. 36: 271-276, 1977.">Fryns et al. (1977)</a>; <a href="#Kousseff1982" class="mim-tip-reference" title="Kousseff, B. G. <strong>Coffin-Lowry syndrome in an Afro-American family. (Letter)</strong> Am. J. Med. Genet. 11: 373-375, 1982.">Kousseff (1982)</a>; <a href="#Vles1984" class="mim-tip-reference" title="Vles, J. S. H., Haspeslagh, M., Raes, M. M. R., Fryns, J. P., Casaer, P., Eggermont, E. <strong>Early clinical signs in Coffin-Lowry syndrome.</strong> Clin. Genet. 26: 448-452, 1984.">Vles
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et al. (1984)</a>; <a href="#Wilson1981" class="mim-tip-reference" title="Wilson, W. G., Kelly, T. E. <strong>Early recognition of the Coffin-Lowry syndrome.</strong> Am. J. Med. Genet. 8: 215-220, 1981.">Wilson and Kelly (1981)</a>
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Biancalana, V., Briard, M. L., David, A., Gilgenkrantz, S., Kaplan, J., Mathieu, M., Piussan, C., Poncin, J., Schinzel, A., Oudet, C., Hanauer, A.
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<strong>Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2.</strong>
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Am. J. Hum. Genet. 50: 981-987, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1349200/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1349200</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1349200" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Biancalana, V., Trivier, E., Weber, C., Weissenbach, J., Rowe, P. S. N., O'Riordan, J. L. H., Partington, M. W., Heyberger, S., Oudet, C., Hanauer, A.
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[<a href="https://doi.org/10.1006/geno.1994.1435" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320590420" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1365-2788.1987.tb01356.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2006.00660.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.30056" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.2006.00723.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.35.8.702" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00446276" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1988.tb02870.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320100113" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320300154" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320450505" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1212/wnl.56.2.207" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320180203" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1982.tb01379.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.10574" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s10048-007-0080-6" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320110317" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320280536" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3177468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3177468</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3177468" 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.1320300153" target="_blank">Full Text</a>]
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<a id="Pereira2007" class="mim-anchor"></a>
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Pereira, P. M., Heron, D., Hanauer, A.
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<strong>The first large duplication of the RSK2 gene identified in a Coffin-Lowry syndrome patient.</strong>
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Hum. Genet. 122: 541-543, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17717706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17717706</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17717706" 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/s00439-007-0424-1" target="_blank">Full Text</a>]
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Pereira, P. M., Schneider, A., Pannetier, S., Heron, D., Hanauer, A.
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<strong>Coffin-Lowry syndrome.</strong>
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Europ. J. Hum. Genet. 18: 627-633, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19888300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19888300</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19888300[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19888300" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ejhg.2009.189" target="_blank">Full Text</a>]
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<a id="Procopis1972" class="mim-anchor"></a>
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Procopis, P. G., Turner, B.
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<strong>Mental retardation, abnormal fingers, and skeletal anomalies: Coffin's syndrome.</strong>
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Am. J. Dis. Child. 124: 258-261, 1972.
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[<a href="https://doi.org/10.1001/archpedi.1972.02110140108016" target="_blank">Full Text</a>]
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Simensen, R. J., Abidi, F., Collins, J. S., Schwartz, C. E., Stevenson, R. E.
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<strong>Cognitive function in Coffin-Lowry syndrome.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12030896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12030896</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12030896" 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/10.1034/j.1399-0004.2002.610410.x" target="_blank">Full Text</a>]
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<a id="Sivagamasundari1994" class="mim-anchor"></a>
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Sivagamasundari, U., Fernando, H., Jardine, P., Rao, J. M., Lunt, P., Jayewardene, S. L. W.
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<strong>The association between Coffin-Lowry syndrome and psychosis: a family study.</strong>
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J. Intellect. Disabil. Res. 38: 469-473, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7841685/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7841685</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7841685" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1365-2788.1994.tb00436.x" target="_blank">Full Text</a>]
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<a id="Temtamy1975" class="mim-anchor"></a>
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Temtamy, S. A., Miller, J. D., Hussels-Maumenee, I.
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<strong>The Coffin-Lowry syndrome: an inherited facio-digital mental retardation syndrome.</strong>
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J. Pediat. 86: 724-731, 1975.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1133653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1133653</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1133653" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(75)80357-x" target="_blank">Full Text</a>]
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<a id="Trivier1996" class="mim-anchor"></a>
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Trivier, E., De Cesare, D., Jacquot, S., Pannetier, S., Zackai, E., Young, I., Mandel, J.-L., Sassone-Corsi, P., Hanauer, A.
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<strong>Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome.</strong>
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Nature 384: 567-570, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8955270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8955270</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8955270" 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/10.1038/384567a0" target="_blank">Full Text</a>]
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<a id="Vine1986" class="mim-anchor"></a>
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Vine, D. T., Gold, J. T., Grant, A. D.
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<strong>Etiology of the weakness in Coffin-Lowry syndrome. (Abstract)</strong>
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Vles, J. S. H., Haspeslagh, M., Raes, M. M. R., Fryns, J. P., Casaer, P., Eggermont, E.
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<strong>Early clinical signs in Coffin-Lowry syndrome.</strong>
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Clin. Genet. 26: 448-452, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6541982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6541982</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6541982" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1984.tb01087.x" target="_blank">Full Text</a>]
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<a id="Wang2006" class="mim-anchor"></a>
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Wang, Y., Martinez, J. E., Wilson, G. L., He, X.-Y., Tuck-Miller, C. M., Maertens, P., Wertelecki, W., Chen, T.-J.
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<strong>A novel RSK2 (RPS6KA3) gene mutation associated with abnormal brain MRI findings in a family with Coffin-Lowry syndrome.</strong>
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Am. J. Med. Genet. 140A: 1274-1279, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16691578/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16691578</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16691578" 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.31266" target="_blank">Full Text</a>]
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<a id="Wilson1981" class="mim-anchor"></a>
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Wilson, W. G., Kelly, T. E.
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<strong>Early recognition of the Coffin-Lowry syndrome.</strong>
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Am. J. Med. Genet. 8: 215-220, 1981.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7282775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7282775</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7282775" 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.1320080212" target="_blank">Full Text</a>]
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<a id="Young1988" class="mim-anchor"></a>
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Young, I. D.
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<strong>The Coffin-Lowry syndrome.</strong>
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J. Med. Genet. 25: 344-348, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3290491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3290491</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3290491" 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.25.5.344" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 5/6/2015
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Cassandra L. Kniffin - updated : 5/19/2011<br>Cassandra L. Kniffin - updated : 8/20/2010<br>Marla J. F. O'Neill - updated : 3/24/2008<br>Cassandra L. Kniffin - updated : 5/2/2007<br>Marla J. F. O'Neill - updated : 9/22/2006<br>Cassandra L. Kniffin - updated : 7/28/2006<br>Marla J. F. O'Neill - updated : 7/20/2004<br>Victor A. McKusick - updated : 3/3/2003<br>Deborah L. Stone - updated : 1/10/2003<br>Victor A. McKusick - updated : 8/12/2002<br>Cassandra L. Kniffin - updated : 7/26/2002<br>George E. Tiller - updated : 2/12/2002<br>Sonja A. Rasmussen - updated : 11/21/2000<br>Michael J. Wright - updated : 2/4/2000<br>Victor A. McKusick - updated : 6/17/1999<br>Michael J. Wright - updated : 2/11/1999<br>Victor A. McKusick - updated : 10/15/1998<br>Victor A. McKusick - updated : 2/14/1997<br>Orest Hurko - updated : 8/11/1995
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Victor A. McKusick : 6/4/1986
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carol : 02/19/2025
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carol : 02/18/2025<br>carol : 11/11/2019<br>carol : 11/11/2019<br>carol : 11/08/2019<br>carol : 05/14/2015<br>mcolton : 5/13/2015<br>ckniffin : 5/6/2015<br>wwang : 6/7/2011<br>ckniffin : 5/19/2011<br>wwang : 8/24/2010<br>ckniffin : 8/20/2010<br>wwang : 3/26/2008<br>terry : 3/24/2008<br>wwang : 5/11/2007<br>ckniffin : 5/2/2007<br>ckniffin : 5/2/2007<br>wwang : 9/22/2006<br>carol : 8/8/2006<br>wwang : 8/3/2006<br>ckniffin : 7/28/2006<br>ckniffin : 7/28/2006<br>carol : 7/21/2004<br>terry : 7/20/2004<br>carol : 3/4/2003<br>tkritzer : 3/4/2003<br>tkritzer : 3/3/2003<br>carol : 1/10/2003<br>carol : 9/18/2002<br>tkritzer : 8/15/2002<br>tkritzer : 8/14/2002<br>terry : 8/12/2002<br>carol : 8/9/2002<br>ckniffin : 8/9/2002<br>ckniffin : 7/26/2002<br>cwells : 2/18/2002<br>cwells : 2/12/2002<br>mcapotos : 12/1/2000<br>mcapotos : 11/21/2000<br>alopez : 2/4/2000<br>alopez : 2/4/2000<br>alopez : 2/4/2000<br>jlewis : 6/23/1999<br>terry : 6/17/1999<br>mgross : 2/26/1999<br>terry : 2/11/1999<br>terry : 10/15/1998<br>mark : 2/14/1997<br>mark : 2/14/1997<br>mark : 1/17/1996<br>terry : 1/16/1996<br>mark : 12/13/1995<br>terry : 12/11/1995<br>terry : 9/11/1995<br>mimadm : 2/27/1994<br>carol : 3/24/1993<br>carol : 6/8/1992<br>carol : 5/12/1992
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<span class="mim-font">
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<strong>#</strong> 303600
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<h3>
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<span class="mim-font">
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COFFIN-LOWRY SYNDROME; CLS
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<strong>SNOMEDCT:</strong> 15182000;
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<strong>ORPHA:</strong> 192;
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<strong>DO:</strong> 3783;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<tbody>
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<span class="mim-font">
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Xp22.12
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<span class="mim-font">
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Coffin-Lowry syndrome
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<span class="mim-font">
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303600
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<span class="mim-font">
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X-linked dominant
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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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RPS6KA3
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<span class="mim-font">
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300075
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Coffin-Lowry syndrome (CLS) is caused by mutation in the RSK2 gene (RPS6KA3; 300075) on chromosome Xp22.</p><p>Mutation in the RPS6KA3 gene can also cause nonsyndromic X-linked intellectual developmental disorder-19 (MRX19; 300844), a milder disorder without skeletal anomalies.</p>
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<strong>Description</strong>
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<p>Coffin-Lowry syndrome (CLS) is a rare X-linked intellectual developmental disorder characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females (Kesler et al., 2007). </p><p>Hendrich and Bickmore (2001) reviewed human disorders which share in common defects of chromatin structure or modification, including the ATR-X spectrum of disorders (301040), ICF syndrome (242860), Rett syndrome (312750), Rubinstein-Taybi syndrome (180849), and Coffin-Lowry syndrome. </p><p>Pereira et al. (2010) provided a review of Coffin-Lowry syndrome. </p>
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<strong>Clinical Features</strong>
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<p>As described by Coffin et al. (1966) in 2 unrelated adolescent boys, the features of CLS are mental retardation with peculiar pugilistic nose, large ears, tapered fingers, drumstick terminal phalanges by x-ray, and pectus carinatum. The occurrence of minor manifestations in female relatives suggested a genetic basis. Procopis and Turner (1972) reported a family in which 4 brothers had the full syndrome and several female relatives had abnormal fingers and mild mental retardation. X-linked dominant inheritance was likely. Lowry et al. (1971) described a new mental retardation syndrome with small stature, retardation of bone age, hypotonia, tapering fingers, and facies characterized by hypertelorism, anteverted nares, and prominent frontal region. Arrested hydrocephalus may also be a feature. The disorder was transmitted through 3 generations, with no instance of male-to-male transmission. Temtamy et al. (1975) deserve credit for demonstrating that the syndromes described by Coffin and Lowry as separate entities are in fact the same, a rare experience in medical genetics where separation of entities with similar phenotype is much more frequent. The appearance of the hands with bulbous tapering fingers was striking in their family. Affected males showed patulous lips and large mouths. Kenyon (reported by Temtamy et al., 1975) found electron microscopic changes in fibroblasts, viz., single-membrane-limited inclusions. </p><p>At least superficial similarity of the facies to that of Williams syndrome (194050) is evident in the photographs published by Hunter et al. (1982). Hunter et al. (1982) found no evidence of a primary disorder of lysosomes in their patients. </p><p>Hersh et al. (1984) were impressed with marked fullness of the forearms as an early sign of Coffin-Lowry syndrome. The bones were normal, the fullness being due to increased subcutaneous fat. They also illustrated broad proximal part of the fingers with distal tapering in both affected males and heterozygotes. The hands in the infants have a puffy appearance. Young (1988) pictured the facial features of 2 pairs of brothers and a pair of sisters with this disorder. One of the brothers had severe kyphoscoliosis. Vine et al. (1986) cited evidence that there is proteodermatan sulfate storage in CLS. They further suggested that weakness in this disorder is neurogenic rather than myopathic in origin, consistent with a lysosomal storage disease. Gilgenkrantz et al. (1988) described in detail 7 families from 5 European centers. </p><p>Machin et al. (1987) reported the pathologic findings in a sister and brother who died at ages 28 and 22, respectively. Visceral neuropathy was found as the basis of extensive intestinal diverticular disease. Mitral regurgitation, resulting from fused and shortened chordae tendineae, and panacinar emphysema were also found. Massin et al. (1999) described recurrent episodes of congestive heart failure from at least the age of 8 years in a boy with Coffin-Lowry syndrome. Surgical repair was performed on the mitral valves. </p><p>Miyazaki et al. (1990) described calcification of the ligamenta flava which led to marked narrowing of the cervical spinal canal with resulting cervical radiculomyelopathy. Biochemical analyses suggested that an alteration in glycosaminoglycan metabolism was a pathogenetic factor in calcification of ligamenta flava. In 3 males in their twenties who had Coffin-Lowry syndrome, Ishida et al. (1992) observed myelopathy caused by calcification of the ligamentum flavum as a result of calcium pyrophosphate dihydrate crystal deposition disease (118600). This was interpreted as further evidence that a metabolic abnormality in collagen and in proteoglycans is present in CLS. They emphasized and illustrated the peculiar stooped posture and striking cervical lordosis in these cases as well as the changes in the fingers and the thick lips. </p><p>Hartsfield et al. (1993) reported on 7 patients with CLS who had sensorineural hearing deficit. One of the patients also had premature exfoliation of primary teeth. Sivagamasundari et al. (1994) presented 3-generation pedigrees that segregated Coffin-Lowry syndrome with 2 mildly affected females and 3 severely affected males. Both mildly affected females had depressive psychosis and all 3 severely affected males had sensorineural deafness. The authors wondered if the depressive psychosis was coincidental or related. They referred to 2 previous reports of depressive psychosis in 2 other females in Coffin-Lowry pedigrees reported by Partington et al. (1988) and Haspeslagh et al. (1984). </p><p>Nakamura et al. (1998) described a 16-year-old girl with fully manifested CLS and drop episodes. The patient experienced instantaneous loss of muscle tone in her legs as a result of sudden unexpected tactile or auditory stimuli. This may represent an unusual type of startle response associated with CLS. </p><p>Hunter (2002) provided a 20-year follow-up of the 6 affected patients with Coffin-Lowry syndrome and 1 carrier mother reported by Hunter et al. (1982). Hunter (2002) also summarized the clinically important complications that have been reported in patients with Coffin-Lowry syndrome: premature death, often from cardiovascular complications; progressive kyphoscoliosis which may compromise mobility and cardiorespiratory status; spinal stenosis, which may cause neurologic symptoms; and drop attacks, which may be mistaken for seizures. Abnormalities in dentition, hearing loss, and ocular abnormalities were noted, as was a suggested excess of psychiatric illness in carrier females. </p><p>Simensen et al. (2002) studied cognitive function in affected members of 2 African American families in which CLS was caused by a 340C-T transition in the RSK2 gene (300075.0006). The subjects included 6 affected males, 7 carrier females, 3 normal males, and 3 noncarrier (normal) females. Unaffected family members served as contrast/comparison cohorts to control for socioeconomic, sociocultural, and genetic variables that might impinge on intellectual abilities. The mean composite IQs of the cohorts were 90.8, 65.0, and 43.2 for normal, carrier, and affected individuals, respectively. </p><p>Fryssira et al. (2002) described a female patient with full-blown CLS, manifested by facial dysmorphism, tapering fingers, and skeletal deformities (pectus excavatum and kyphoscoliosis), who was found to have a splice site mutation of the RSK2 gene (300075.0015). Her overall IQ was 53. At the age of 9 years, there was onset of a cataplexy-like phenomenon characterized by a sudden and reversible loss of muscle tone without loss of consciousness. Cataplexy was described in CLS by Fryns and Smeets (1998). </p><p>Facher et al. (2004) described a 14-year-old boy with physical and developmental findings consistent with Coffin-Lowry syndrome in whom they identified a 3-bp deletion at nucleotide 1428 of the RSK2 gene (300075.0018). The patient was unusual in that he presented with a relatively sudden onset of signs of congestive heart failure due to a restrictive cardiomyopathy; endomyocardial biopsy demonstrated nonspecific hypertrophic myocyte alterations consistent with cardiomyopathy. The authors stated that this was the first documented case of restrictive cardiomyopathy in Coffin-Lowry syndrome. </p><p>Wang et al. (2006) reported a woman with CLS who had 2 affected daughters and 1 affected son. All had moderate to severe mental retardation with the typical CLS phenotype. Brain MRI studies on the 3 children showed abnormalities in the deep subcortical white matter, thinning of the corpus callosum, hypoplastic cerebellar vermis, and asymmetry of the lateral ventricles. The degree of severity of the MRI findings correlated with the severity of mental retardation. </p><p>Kesler et al. (2007) examined brain morphology in 2 families with CLS. One family included a 32-year-old carrier mother and her 2 affected sons aged 9 and 11 years; the second family included 7-year-old carrier female twins and a 4-year-old affected male. All individuals with CLS demonstrated significantly decreased total brain volumes compared to age-matched controls. The most affected areas were the temporal lobe, cerebellum, and hippocampus, with individuals having either disproportionately enlarged or reduced volumes of these regions. Kesler et al. (2007) interpreted the findings as evidence of altered early neurodevelopment and disruptions in neuronal organization and plasticity in patients with CLS. </p><p><strong><em>Clinical Variability</em></strong></p><p>
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Manouvrier-Hanu et al. (1999) reported 2 male sibs with a mild form of CLS who had a missense mutation in exon 7 of the RSK gene (300075.0011). The phenotype was unusual in that the degree of mental retardation and other features was milder than had been reported. Both boys had hypotonia, macrocephaly, telecanthus, and broad great toes; in addition, one boy had pigmentary abnormalities, and the other had an anteriorly placed anus. In light of these findings, the diagnosis of FG syndrome (305450) was considered. As the boys grew, macrocephaly decreased, forearm fullness and tapering fingers were more obvious, and the facies coarsened with anteverted nares and everted lower lip, leading to the consideration of the diagnosis of CLS. This diagnosis was confirmed by mutation analysis. </p>
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<h4>
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<strong>Diagnosis</strong>
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</h4>
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<p>Merienne et al. (1998) evaluated both immunoblot and RSK2 kinase assays as diagnostic tests for Coffin-Lowry syndrome using cultured lymphoblastoid or fibroblast cell lines. Western blot analysis failed to detect RSK2 protein in 6 patients, suggesting the presence of truncated proteins. This conclusion was confirmed in 4 patients, in whom the causative mutations, all leading to premature termination of translation, were identified. Of 4 patients showing normal amounts of RSK2 protein on Western blot and tested for RSK2 phosphotransferase activity, 1 had impaired activity. Analysis of RSK2 cDNA sequence in this patient showed a mutation of a putative phosphorylation site that would be critical for RSK2 activity. Merienne et al. (1998) concluded that both assays were reliable and rapid methods for diagnosis of Coffin-Lowry syndrome, and that, at least, the Western blot analysis could be used directly on lymphocyte protein extracted directly from blood samples. </p>
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<strong>Mapping</strong>
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</h4>
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<span class="mim-text-font">
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<p>Hanauer et al. (1987, 1988) found linkage of CLS to DNA markers on Xp, suggesting that the CLS locus may be situated in the Xp22.3-p22.1 region. The multipoint lod score was 2.2 at theta = 0.0 for linkage with 2 markers in this region. Partington et al. (1988) restudied the family first reported by Procopis and Turner (1972). They found that there were now 12 affected members in 3 generations. They examined 9 of them personally and concluded that the CLS locus is distal to DMD. Biancalana et al. (1992) extended their studies to 16 families, using 7 RFLP markers spanning the Xp22.2-p22.1 region. A multipoint linkage analysis placed the CLS locus, with a maximum multipoint lod score of 7.30, within a 7-cM interval defined by a cluster of tightly linked markers, DXS207-DXS43-DXS197, on the distal side and by DXS274 on the proximal side. No evidence of linkage heterogeneity was detected. Biancalana et al. (1994) defined the genetic localization of the CLS gene by construction of a high-resolution linkage map. The study permitted them to refine the localization of 5 other genes in that region. Crossover analysis in a British family suggested to Bird et al. (1995) that the CLS locus is in a region of approximately 3.4 cM in Xp22 with DXS365 as the closest proximal flanking marker identified to date. Features of the face and distally tapering fingers were demonstrated with photographs. </p>
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<strong>Molecular Genetics</strong>
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<p>Trivier et al. (1996) demonstrated deletion, nonsense, and missense mutations of the RSK2 gene in patients with CLS. The gene is located within an interval of approximately 3 cM, between DXS365 and DXS7161, on Xp22.3 where the CLS gene had been located. </p><p>McCandless et al. (2000) reported a man with features of Coffin-Lowry syndrome, including severe mental retardation, short stature, coarse facies, patulous lips, and characteristic radiographic hand findings, with a cytogenetic deletion of chromosome 10, 46,XY,del(10)(q25.1q25.3). Since the RSK2 gene is part of a gene family implicated in cell cycle regulation through the mitogen-activated protein kinase cascade (see MAPK11; 602898), the authors suggested that a gene involved in MAPK signaling may be present in the deleted region. </p><p>Delaunoy et al. (2006) analyzed the RPS6KA3 gene in 120 patients with CLS and identified 45 mutations, of which 44 were novel, confirming the high rate of new mutations at the RSK2 locus. The authors noted that no mutation was found in over 60% of the patients referred to them for screening. Delaunoy et al. (2006) stated that of the 128 CLS mutations reported to date, 33% are missense mutations, 15% nonsense mutations, 20% splicing errors, and 29% short deletion or insertion events; and 4 large deletions have been reported. The mutations are distributed throughout the RPS6KA3 gene, and most mutations are private. </p><p>In a 1.5-year-old boy with a clinical phenotype highly suggestive of CLS in whom no mutation had been identified by sequencing PCR-amplified exons of RPS6KA3 from genomic DNA, Pereira et al. (2007) analyzed the gene by directly sequencing RSK2 cDNA and identified a tandem duplication of exons 17 to 20 (300075.0019). The authors stated that this was the first reported large duplication in the RPS6KA3 gene, and noted that immunoblot analysis or a molecular assay capable of detecting large genomic events is essential for the definitive diagnosis of CLS when exon screening fails to detect a mutation. </p><p>In cells derived from an affected member of the original family with Coffin-Lowry syndrome reported by Lowry et al. (1971), Nishimoto et al. (2014) identified an in-frame deletion in the RPS6KA3 gene (300075.0022). </p>
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<strong>Genotype/Phenotype Correlations</strong>
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<p>The level of residual RPS6KA3 activity seems to be related to the severity of the phenotype. Merienne et al. (1999) demonstrated 10 to 20% residual enzymatic activity in patients with nonsyndromic X-linked mental retardation (MRX19; 300844), which was postulated to result in the relatively mild phenotype without skeletal anomalies (300075.0010). The patients reported by Field et al. (2006) with nonsyndromic X-linked mental retardation also had a milder phenotype, which they thought likely resulted from residual protein activity. Field et al. (2006) noted that the mutations (see, e.g., 300075.0020-300075.0021) in their report and the mutation (300075.0011) reported by Manouvrier-Hanu et al. (1999) in a family with mild Coffin-Lowry syndrome were small in-frame deletions or missense mutations affecting the serine/threonine kinase domain. Field et al. (2006) hypothesized that the presence of a small amount of residual enzymatic activity may be sufficient to maintain normal osteoblast differentiation and ameliorate the skeletal phenotype associated with CLS. </p>
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<strong>Pathogenesis</strong>
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<p>Harum et al. (2001) noted that, based on evidence from experimental models, the transcription factor cAMP response element-binding protein (CREB; 123810) is thought to be involved in memory formation. RSK2 activates CREB through phosphorylation at serine-133. In 7 patients with Coffin-Lowry syndrome (5 boys and 2 girls), Harum et al. (2001) found a diminished activity of RSK2 to phosphorylate a CREB-like peptide in vitro in all cells lines. The authors noted a linear correlation between RSK2 activation of CREB and cognitive levels of the patients, consistent with the hypothesis that CREB is involved in human learning and memory. Other characteristics of the syndrome, including facial and bony abnormalities, may be due to impaired expression of various CREB-responsive genes. </p>
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<strong>Population Genetics</strong>
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<span class="mim-text-font">
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<p>The estimated incidence of Coffin-Lowry syndrome is 1 in 50,000 to 1 in 100,000, and about 70 to 80% of patients are sporadic cases (Pereira et al., 2010). </p>
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<strong>History</strong>
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<span class="mim-text-font">
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<p>Mattei et al. (1981) reported 2 sisters with Coffin-Lowry syndrome; however, as noted by Gorlin (1981), these sisters actually had Coffin-Siris syndrome (135900). </p>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Collacott et al. (1987); Fryns et al. (1977); Kousseff (1982); Vles
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et al. (1984); Wilson and Kelly (1981)
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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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<ol>
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Biancalana, V., Briard, M. L., David, A., Gilgenkrantz, S., Kaplan, J., Mathieu, M., Piussan, C., Poncin, J., Schinzel, A., Oudet, C., Hanauer, A.
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<strong>Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2.</strong>
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Am. J. Hum. Genet. 50: 981-987, 1992.
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[PubMed: 1349200]
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