3110 lines
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Entry
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- #313400 - SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT
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- OMIM
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<p>
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<span class="h4">#313400</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/313400"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#mapping">Mapping</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</h4>
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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=SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED" 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=12224&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/NBK1145/" 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/6828" 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/x-linked-spondyloepiphyseal-dysplasia-tarda" 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=313400[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=93284" 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/39109c4b-4560-4027-bf8a-01d37673c72e/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0080362" 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/313400" 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/OMIA002834/" 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:0080362" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<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> 51952004<br />
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<strong>ORPHA:</strong> 93284<br />
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<strong>DO:</strong> 0080362<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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313400
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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SED TARDA, X-LINKED<br />
|
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SPONDYLOEPIPHYSEAL DYSPLASIA, LATE
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/X/69?start=-3&limit=10&highlight=69">
|
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Xp22.2
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</a>
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</span>
|
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</td>
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<td>
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<span class="mim-font">
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Spondyloepiphyseal dysplasia tarda
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/313400"> 313400 </a>
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</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
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|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
TRAPPC2
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300202"> 300202 </a>
|
|
</span>
|
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</td>
|
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</tr>
|
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</tbody>
|
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</table>
|
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</div>
|
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</div>
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<div>
|
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|
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<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/313400" 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>
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|
|
<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/313400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/313400" 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>
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<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
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|
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|
|
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- X-linked recessive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845977&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845977</a>, <a href="https://bioportal.bioontology.org/search?q=C1279481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279481</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br /> -
|
|
Short trunk <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0521527&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521527</a>]</span><br /> -
|
|
Final adult height 131-156 cm <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839249&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839249</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> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Corneal opacities <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64634000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64634000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413921009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413921009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/371.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">371.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010038&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010038</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007957" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007957</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007957" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007957</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Neck </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short neck <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95427009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95427009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0521525&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521525</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000470" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000470</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000470" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000470</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=5edf45ce6835f32360d28d26249e2531" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Neck,Short-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=5edf45ce6835f32360d28d26249e2531" 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>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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">
|
|
|
|
- Broad chest <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839248&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839248</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000914" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000914</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000914" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000914</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">
|
|
|
|
- Osteoarthritis (back, hip, knee) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839250&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839250</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/225655006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">225655006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/396275006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">396275006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M15-M19" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M15-M19</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M19.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M19.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M19.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M19.90</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/715.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">715.9</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002758" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002758</a>]</span><br /> -
|
|
Limited joint motion <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857108&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857108</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001376" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001376</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001376" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001376</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Platyspondyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844704&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844704</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000926" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000926</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000926" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000926</a>]</span><br /> -
|
|
Hump-shaped mound of bone in central and posterior portions of vertebral endplate <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839252&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839252</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004594" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004594</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004594" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004594</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 /> -
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Mild scoliosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839253&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839253</a>]</span> <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">[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 /> -
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Lumbar hyperlordosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/313471000119104" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">313471000119104</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1184923&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1184923</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002938</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002938</a>]</span><br /> -
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Narrow disc spaces <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11301007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11301007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0263870&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0263870</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002945" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002945</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Pelvis </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Small iliac wings <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865027&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865027</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002866" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002866</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002866" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002866</a>]</span><br /> -
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Coxa vara <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12067001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12067001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74820003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74820003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1179328008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1179328008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q65.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q65.82</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.32" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.32</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/755.62" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.62</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239138&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239138</a>, <a href="https://bioportal.bioontology.org/search?q=C5551440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5551440</a>, <a href="https://bioportal.bioontology.org/search?q=C0158481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158481</a>, <a href="https://bioportal.bioontology.org/search?q=C0152431&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152431</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002812</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Limbs </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Small capital femoral epiphyses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839254&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839254</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003090" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003090</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003090" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003090</a>]</span><br /> -
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Short femoral neck <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836184&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836184</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100864" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100864</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100864" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100864</a>]</span><br /> -
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Mild epiphyseal irregularities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839255&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839255</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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- Age of onset 5-10 years<br /> -
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Arthralgias <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57676002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57676002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M25.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M25.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/719.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">719.40</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/719.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">719.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003862&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003862</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002829</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002829</a>]</span><br /> -
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Carrier females have arthralgias in middle age<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 sedlin gene (SEDL, <a href="/entry/300202#0001">300202.0001</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 spondyloepiphyseal dysplasia tarda is caused by mutation in the SEDL (TRAPPC2) gene (<a href="/entry/300202">300202</a>) on chromosome Xp22.</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><a href="#1" class="mim-tip-reference" title="Bannerman, R. M., Ingall, G. B., Mohn, J. F. <strong>X-linked spondyloepiphyseal dysplasia tarda: clinical and linkage data.</strong> J. Med. Genet. 8: 291-301, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4999590/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4999590</a>] [<a href="https://doi.org/10.1136/jmg.8.3.291" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4999590">Bannerman et al. (1971)</a> cited early reports of this disorder (e.g., <a href="#19" class="mim-tip-reference" title="Nilsonne, H. <strong>Eigentuemliche Wirbelkorper-veraenderungen mit familiaerem Auftreten.</strong> Acta Chir. Scand. 62: 550-554, 1927."None>Nilsonne, 1927</a>; <a href="#5" class="mim-tip-reference" title="Barber, H. S. <strong>An unusual form of familial osteodystrophy.</strong> Lancet 275: 1220-1221, 1960. Note: Originally Volume I.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13796581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13796581</a>] [<a href="https://doi.org/10.1016/s0140-6736(60)91101-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="13796581">Barber, 1960</a>) and reviewed the clinical features in a large American family of English origin originally described by <a href="#13" class="mim-tip-reference" title="Jacobsen, A. W. <strong>Hereditary osteochondro-dystrophia deformans: a family with twenty members affected in five generations.</strong> JAMA 113: 121-124, 1939."None>Jacobsen (1939)</a>. They described the major features of the disorder as short stature first evident between 5 and 14 years of age; shortness due to impaired growth of the spine; radiologically, characteristic flattening of vertebrae with central humping; dysplastic changes of femoral heads and neck; and minor changes in other bones. Bony changes lead to secondary osteoarthritis, which becomes troublesome in the forties and may be disabling in the sixties. <a href="#3" class="mim-tip-reference" title="Bannerman, R. M. <strong>Personal Communication.</strong> Buffalo, N. Y. 10/13/1981."None>Bannerman (1981)</a> reviewed this material and concluded that heterozygotes show no abnormality such as short stature. Several females had arthritic complaints; e.g., M.Z., the daughter and mother of affected males, had considerable 'arthritis' from age 33 years and by age 51 had almost no movement in either hip and, by x-ray, bony fusion of the left hip. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4999590+13796581" 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>The radiographic features of this disorder are so distinctive that the diagnosis seems unequivocal in the sexually normal, 29-year-old woman (with normal XX karyotype including banding) reported by <a href="#18" class="mim-tip-reference" title="Monteiro de Pina Neto, J., Bonfim, M. D., Ferrari, I. <strong>Classic X-linked spondyloepiphyseal dysplasia tarda in a woman with normal karyotype. In: Papadatos, C. J.; Bartsocas, C. S.: Skeletal Dysplasias.</strong> New York: Alan R. Liss (pub.) 1982. Pp. 127-132."None>Monteiro de Pina Neto et al. (1982)</a>. No other persons in the family were affected. The authors suggested that she was heterozygous and that chance lyonization of most X chromosomes with the normal allele had occurred.</p><p><a href="#10" class="mim-tip-reference" title="Heuertz, S., Nelen, M., Wilkie, A. O. M., Le Merrer, M., Delrieu, O., Larget-Piet, L., Tranebjaerg, L., Bick, D., Hamel, B., Van Oost, B. A., Maroteaux, P., Hors-Cayla, M.-C. <strong>The gene for spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DXS92.</strong> Genomics 18: 100-104, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7903956/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7903956</a>] [<a href="https://doi.org/10.1006/geno.1993.1431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7903956">Heuertz et al. (1993)</a> suggested that this disorder was first described by <a href="#17" class="mim-tip-reference" title="Maroteaux, P., Lamy, M., Bernard, J. <strong>La dysplasie spondylo-epiphysaire tardive.</strong> Presse Med. 65: 1205-1208, 1957.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13453331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13453331</a>]" pmid="13453331">Maroteaux et al. (1957)</a> in a study of 3 large kindreds with 11 affected persons. The disorder is characterized by short stature which becomes evident between 10 and 14 years of age and leads to an average adult height of 1.45 m. Radiologic diagnosis cannot be established before 4 to 6 years of age. Bone changes of the femoral head lead to secondary osteoarthritis during adulthood and some patients require total arthroplasty of the hip before the age of 40 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7903956+13453331" 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="Whyte, M. P., Gottesman, G. S., Eddy, M. C., McAlister, W. H. <strong>X-linked recessive spondyloepiphyseal dysplasia tarda: clinical and radiographic evolution in a 6-generation kindred and review of the literature.</strong> Medicine 78: 9-25, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9990351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9990351</a>] [<a href="https://doi.org/10.1097/00005792-199901000-00002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9990351">Whyte et al. (1999)</a> described the clinical and radiographic evaluation of a second large American kindred with X-linked recessive SEDT, the first such family being the classic family reported by <a href="#13" class="mim-tip-reference" title="Jacobsen, A. W. <strong>Hereditary osteochondro-dystrophia deformans: a family with twenty members affected in five generations.</strong> JAMA 113: 121-124, 1939."None>Jacobsen (1939)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9990351" 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="#23" class="mim-tip-reference" title="Wynne-Davies, R., Gormley, J. <strong>The prevalence of skeletal dysplasias: an estimate of their minimum frequency and the number of patients requiring orthopaedic care.</strong> J. Bone Joint Surg. Br. 67: 133-137, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3155744/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3155744</a>] [<a href="https://doi.org/10.1302/0301-620X.67B1.3155744" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3155744">Wynne-Davies and Gormley (1985)</a> estimated the prevalence of SEDT to be 1 per 100,000 in a Scottish population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3155744" 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>Cosegregation of SEDT and deutan colorblindness (<a href="/entry/303800">303800</a>) suggested to <a href="#14" class="mim-tip-reference" title="Kousseff, B. G., Hummel, M., Phillips, J., III, Murphy, P. <strong>Spondyloepiphyseal dysplasia tarda and deutan color blindness in a family. (Abstract)</strong> 7th International Congress of Human Genetics, Berlin 1986. P. 258."None>Kousseff et al. (1986)</a> that the SEDT locus is in the Xq28 band. <a href="#20" class="mim-tip-reference" title="Szpiro-Tapia, S., Sefiani, A., Guilloud-Bataille, M., Heuertz, S., LeMarec, B., Frezal, J., Maroteaux, P., Hors-Cayla, M. C. <strong>Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the distal short arm of the X chromosome.</strong> Hum. Genet. 81: 61-63, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3198127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3198127</a>] [<a href="https://doi.org/10.1007/BF00283731" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3198127">Szpiro-Tapia et al. (1988)</a> excluded linkage with markers in region Xq28. They found linkage to DXS41 (maximum lod = 3.07 at theta = 0.08), located in Xp22.1, and DXS92 (maximum lod = 2.95 at theta = 0.05). DXS92 had been thought to be located at Xq26-q27; hybridization to cells containing X chromosome fragments, however, excluded location on Xq and on the proximal part of Xp. <a href="#20" class="mim-tip-reference" title="Szpiro-Tapia, S., Sefiani, A., Guilloud-Bataille, M., Heuertz, S., LeMarec, B., Frezal, J., Maroteaux, P., Hors-Cayla, M. C. <strong>Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the distal short arm of the X chromosome.</strong> Hum. Genet. 81: 61-63, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3198127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3198127</a>] [<a href="https://doi.org/10.1007/BF00283731" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3198127">Szpiro-Tapia et al. (1988)</a> concluded that DXS92 is located on Xp between Xp11.21 and Xpter. Reference was made to another family with linkage mapping to the same region of Xp. It is of interest that <a href="#1" class="mim-tip-reference" title="Bannerman, R. M., Ingall, G. B., Mohn, J. F. <strong>X-linked spondyloepiphyseal dysplasia tarda: clinical and linkage data.</strong> J. Med. Genet. 8: 291-301, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4999590/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4999590</a>] [<a href="https://doi.org/10.1136/jmg.8.3.291" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4999590">Bannerman et al. (1971)</a>, studying the original family reported by <a href="#13" class="mim-tip-reference" title="Jacobsen, A. W. <strong>Hereditary osteochondro-dystrophia deformans: a family with twenty members affected in five generations.</strong> JAMA 113: 121-124, 1939."None>Jacobsen (1939)</a> in Buffalo, found a suggestion of linkage to Xg blood group, which would be consistent with the findings of the recent study. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4999590+3198127" 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="#10" class="mim-tip-reference" title="Heuertz, S., Nelen, M., Wilkie, A. O. M., Le Merrer, M., Delrieu, O., Larget-Piet, L., Tranebjaerg, L., Bick, D., Hamel, B., Van Oost, B. A., Maroteaux, P., Hors-Cayla, M.-C. <strong>The gene for spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DXS92.</strong> Genomics 18: 100-104, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7903956/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7903956</a>] [<a href="https://doi.org/10.1006/geno.1993.1431" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7903956">Heuertz et al. (1993)</a> extended the studies of <a href="#20" class="mim-tip-reference" title="Szpiro-Tapia, S., Sefiani, A., Guilloud-Bataille, M., Heuertz, S., LeMarec, B., Frezal, J., Maroteaux, P., Hors-Cayla, M. C. <strong>Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the distal short arm of the X chromosome.</strong> Hum. Genet. 81: 61-63, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3198127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3198127</a>] [<a href="https://doi.org/10.1007/BF00283731" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3198127">Szpiro-Tapia et al. (1988)</a> by analyzing 15 families with 13 markers from the Xp22 region. Multipoint linkage analysis indicated that the SEDT mutation is located between DXS16 and DXS92. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7903956+3198127" 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="Bernard, L. E., Chitayat, D., Weksberg, R., Van Allen, M. I., Langlois, S. <strong>Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia.</strong> J. Med. Genet. 33: 432-434, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733060/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733060</a>] [<a href="https://doi.org/10.1136/jmg.33.5.432" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8733060">Bernard et al. (1996)</a> presented linkage data using microsatellite markers on 2 Canadian X-linked SED families, one of Norwegian descent and the other from Great Britain. Support of the previous localization was obtained. One family showed a maximal lod score of 3.0 at theta = 0.0 with marker DXS1043 and the other family had a maximal lod score of 1.2 at theta = 0.0 with markers DXS1224 and DXS418. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8733060" 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="#9" class="mim-tip-reference" title="Gedeon, A. K., Colley, A., Jamieson, R., Thompson, E. M., Rogers, J., Sillence, D., Tiller, G. E., Mulley, J. C., Gecz, J. <strong>Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.</strong> Nature Genet. 22: 400-404, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10431248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10431248</a>] [<a href="https://doi.org/10.1038/11976" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10431248">Gedeon et al. (1999)</a> confirmed and refined the localization of SEDT to an interval of less than 170 kb by critical recombination events at DXS16 and AFMa124wc1 in 2 families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10431248" 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="#21" class="mim-tip-reference" title="Venditti, R., Scanu, T., Santoro, M., Di Tullio, G., Spaar, A., Gaibisso, R., Beznoussenko, G. V., Mironov, A. A., Mironov, A., Jr., Zelante, L., Piemontese, M. R., Notarangelo, A., Malhotra, V., Vertel, B. M., Wilson, C., De Matteis, M. A. <strong>Sedlin controls the ER export of procollagen by regulating the Sar1 cycle.</strong> Science 337: 1668-1672, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23019651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23019651</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23019651[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/10.1126/science.1224947" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23019651">Venditti et al. (2012)</a> found that TANGO1 (<a href="/entry/613455">613455</a>) recruits sedlin (<a href="/entry/300202">300202</a>), a TRAPP component that is defective in spondyloepiphyseal dysplasia tarda, and that sedlin is required for the endoplasmic reticulum (ER) export of procollagen, prefibrils of which are too large to fit into typical COPII vesicles. Sedlin bound and promoted efficient cycling of SAR1 (<a href="/entry/603379">603379</a>), a guanosine triphosphate that can constrict membranes, and thus allowed nascent carriers to grow and incorporate procollagen prefibrils. This joint action of TANGO1 and Sedlin sustained the ER export of procollagen, and its derangement may explain the defective chondrogenesis underlying SEDT. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23019651" 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="#9" class="mim-tip-reference" title="Gedeon, A. K., Colley, A., Jamieson, R., Thompson, E. M., Rogers, J., Sillence, D., Tiller, G. E., Mulley, J. C., Gecz, J. <strong>Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.</strong> Nature Genet. 22: 400-404, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10431248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10431248</a>] [<a href="https://doi.org/10.1038/11976" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10431248">Gedeon et al. (1999)</a> detected 3 dinucleotide deletions in the SEDL gene (<a href="/entry/300202#0001">300202.0001</a>-<a href="/entry/300202#0003">300202.0003</a>), resulting in frameshifts and premature stop codons, in 3 Australian families with SEDT. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10431248" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an Ashkenazi Jewish family with SEDT, <a href="#4" class="mim-tip-reference" title="Bar-Yosef, U., Ohana, E., Hershkovitz, E., Perlmuter, S., Ofir, R., Birk, O. S. <strong>X-linked spondyloepiphyseal dysplasia tarda: a novel SEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations.</strong> Am. J. Med. Genet. 125A: 45-48, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14755465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14755465</a>] [<a href="https://doi.org/10.1002/ajmg.a.20435" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14755465">Bar-Yosef et al. (2004)</a> identified a single nucleotide deletion at position 613 in the SEDL gene (<a href="/entry/300202#0011">300202.0011</a>). The authors stated that this was the first report of an SEDL mutation in a Jewish family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14755465" 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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(1961)</a>; <a href="#Iceton1986" class="mim-tip-reference" title="Iceton, J. A., Horne, G. <strong>Spondylo-epiphyseal dysplasia tarda: the X-linked variety in three brothers.</strong> J. Bone Joint Surg. Br. 68: 616-619, 1986.">Iceton and Horne (1986)</a>; <a href="#Lamy1960" class="mim-tip-reference" title="Lamy, M., Maroteaux, P. <strong>Les chondrodystrophies genotypiques.</strong> Paris: L'Expansion (pub.) 1960. P. 67ff.">Lamy and Maroteaux (1960)</a>; <a href="#Langer1964" class="mim-tip-reference" title="Langer, L. O., Jr. <strong>Spondyloepiphyseal dysplasia tarda: hereditary chondrodysplasia with characteristic vertebral configuration in the adult.</strong> Radiology 82: 833-839, 1964.">Langer
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Bannerman, R. M., Ingall, G. B., Mohn, J. F.
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J. Med. Genet. 8: 291-301, 1971.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4999590/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4999590</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4999590" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bannerman, R. M.
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<strong>X-linked spondyloepiphyseal dysplasia tarda (SDT).</strong>
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Birth Defects Orig. Art. Ser. V(4): 48-51, 1969.
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Bannerman, R. M.
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<strong>Personal Communication.</strong>
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Buffalo, N. Y. 10/13/1981.
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Bar-Yosef, U., Ohana, E., Hershkovitz, E., Perlmuter, S., Ofir, R., Birk, O. S.
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<strong>X-linked spondyloepiphyseal dysplasia tarda: a novel SEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations.</strong>
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Am. J. Med. Genet. 125A: 45-48, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14755465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14755465</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14755465" 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.20435" target="_blank">Full Text</a>]
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<a id="Barber1960" class="mim-anchor"></a>
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Barber, H. S.
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<strong>An unusual form of familial osteodystrophy.</strong>
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Lancet 275: 1220-1221, 1960. Note: Originally Volume I.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13796581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13796581</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13796581" 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/s0140-6736(60)91101-6" target="_blank">Full Text</a>]
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Barber, H. S.
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<strong>An unusual form of familial osteodystrophy. (Letter)</strong>
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Lancet 276: 154-155, 1960. Note: Originally Volume II.
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Bernard, L. E., Chitayat, D., Weksberg, R., Van Allen, M. I., Langlois, S.
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<strong>Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia.</strong>
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J. Med. Genet. 33: 432-434, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8733060/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8733060</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8733060" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Branford, W. A., Beveridge, G. W., Wynne-Davies, R.
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<strong>Two first cousins with spondyloepiphyseal dysplasia tarda (X linked recessive form), one also with poikiloderma atrophicans vasculare progressing to lymphocytic lymphoma.</strong>
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J. Med. Genet. 19: 210-213, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6809944/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6809944</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6809944" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Gedeon, A. K., Colley, A., Jamieson, R., Thompson, E. M., Rogers, J., Sillence, D., Tiller, G. E., Mulley, J. C., Gecz, J.
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<strong>Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.</strong>
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Nature Genet. 22: 400-404, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10431248/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10431248</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10431248" 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/10.1038/11976" target="_blank">Full Text</a>]
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Heuertz, S., Nelen, M., Wilkie, A. O. M., Le Merrer, M., Delrieu, O., Larget-Piet, L., Tranebjaerg, L., Bick, D., Hamel, B., Van Oost, B. A., Maroteaux, P., Hors-Cayla, M.-C.
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<strong>The gene for spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DXS92.</strong>
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Genomics 18: 100-104, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7903956/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7903956</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7903956" 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/10.1006/geno.1993.1431" target="_blank">Full Text</a>]
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Hobaek, A.
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<strong>Problems of Hereditary Chondrodysplasia.</strong>
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Oslo: Oslo Univ. Press (pub.) 1961.
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Iceton, J. A., Horne, G.
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<strong>Spondylo-epiphyseal dysplasia tarda: the X-linked variety in three brothers.</strong>
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J. Bone Joint Surg. Br. 68: 616-619, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3733841/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3733841</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3733841" 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/10.1302/0301-620X.68B4.3733841" target="_blank">Full Text</a>]
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Jacobsen, A. W.
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<strong>Hereditary osteochondro-dystrophia deformans: a family with twenty members affected in five generations.</strong>
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JAMA 113: 121-124, 1939.
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Kousseff, B. G., Hummel, M., Phillips, J., III, Murphy, P.
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<strong>Spondyloepiphyseal dysplasia tarda and deutan color blindness in a family. (Abstract)</strong>
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7th International Congress of Human Genetics, Berlin 1986. P. 258.
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Lamy, M., Maroteaux, P.
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<strong>Les chondrodystrophies genotypiques.</strong>
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Paris: L'Expansion (pub.) 1960. P. 67ff.
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Langer, L. O., Jr.
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<strong>Spondyloepiphyseal dysplasia tarda: hereditary chondrodysplasia with characteristic vertebral configuration in the adult.</strong>
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Radiology 82: 833-839, 1964.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14153674/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14153674</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14153674" 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/10.1148/82.5.833" target="_blank">Full Text</a>]
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<p class="mim-text-font">
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Maroteaux, P., Lamy, M., Bernard, J.
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<strong>La dysplasie spondylo-epiphysaire tardive.</strong>
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Presse Med. 65: 1205-1208, 1957.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13453331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13453331</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13453331" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="18" class="mim-anchor"></a>
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<a id="Monteiro de Pina Neto1982" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Monteiro de Pina Neto, J., Bonfim, M. D., Ferrari, I.
|
|
<strong>Classic X-linked spondyloepiphyseal dysplasia tarda in a woman with normal karyotype. In: Papadatos, C. J.; Bartsocas, C. S.: Skeletal Dysplasias.</strong>
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New York: Alan R. Liss (pub.) 1982. Pp. 127-132.
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</p>
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</div>
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</li>
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<li>
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<a id="19" class="mim-anchor"></a>
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<a id="Nilsonne1927" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Nilsonne, H.
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<strong>Eigentuemliche Wirbelkorper-veraenderungen mit familiaerem Auftreten.</strong>
|
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Acta Chir. Scand. 62: 550-554, 1927.
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</p>
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</div>
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</li>
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<li>
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<a id="20" class="mim-anchor"></a>
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<a id="Szpiro-Tapia1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Szpiro-Tapia, S., Sefiani, A., Guilloud-Bataille, M., Heuertz, S., LeMarec, B., Frezal, J., Maroteaux, P., Hors-Cayla, M. C.
|
|
<strong>Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the distal short arm of the X chromosome.</strong>
|
|
Hum. Genet. 81: 61-63, 1988.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3198127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3198127</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3198127" 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/BF00283731" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="21" class="mim-anchor"></a>
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<a id="Venditti2012" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Venditti, R., Scanu, T., Santoro, M., Di Tullio, G., Spaar, A., Gaibisso, R., Beznoussenko, G. V., Mironov, A. A., Mironov, A., Jr., Zelante, L., Piemontese, M. R., Notarangelo, A., Malhotra, V., Vertel, B. M., Wilson, C., De Matteis, M. A.
|
|
<strong>Sedlin controls the ER export of procollagen by regulating the Sar1 cycle.</strong>
|
|
Science 337: 1668-1672, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23019651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23019651</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23019651[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=23019651" 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/10.1126/science.1224947" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="22" class="mim-anchor"></a>
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<a id="Whyte1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Whyte, M. P., Gottesman, G. S., Eddy, M. C., McAlister, W. H.
|
|
<strong>X-linked recessive spondyloepiphyseal dysplasia tarda: clinical and radiographic evolution in a 6-generation kindred and review of the literature.</strong>
|
|
Medicine 78: 9-25, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9990351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9990351</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9990351" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1097/00005792-199901000-00002" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="23" class="mim-anchor"></a>
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<a id="Wynne-Davies1985" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wynne-Davies, R., Gormley, J.
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<strong>The prevalence of skeletal dysplasias: an estimate of their minimum frequency and the number of patients requiring orthopaedic care.</strong>
|
|
J. Bone Joint Surg. Br. 67: 133-137, 1985.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3155744/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3155744</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3155744" 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/10.1302/0301-620X.67B1.3155744" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 10/24/2012
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
|
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Marla J. F. O'Neill - updated : 5/18/2004<br>Ada Hamosh - updated : 8/2/1999<br>Victor A. McKusick - updated : 4/26/1999
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/01/2017
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 07/19/2016<br>alopez : 10/25/2012<br>terry : 10/24/2012<br>terry : 1/13/2011<br>carol : 9/14/2010<br>terry : 5/11/2010<br>carol : 9/24/2009<br>terry : 6/3/2009<br>terry : 3/31/2009<br>carol : 5/19/2004<br>terry : 5/18/2004<br>alopez : 3/2/2000<br>carol : 2/26/2000<br>alopez : 8/4/1999<br>terry : 8/2/1999<br>alopez : 5/10/1999<br>terry : 4/26/1999<br>mark : 7/9/1996<br>terry : 6/28/1996<br>davew : 7/18/1994<br>terry : 6/14/1994<br>warfield : 4/20/1994<br>pfoster : 3/30/1994<br>mimadm : 2/28/1994<br>carol : 11/24/1993
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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 class="container visible-print-block">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 313400
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT
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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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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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SED TARDA, X-LINKED<br />
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SPONDYLOEPIPHYSEAL DYSPLASIA, LATE
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 51952004;
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<strong>ORPHA:</strong> 93284;
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<strong>DO:</strong> 0080362;
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
|
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Inheritance
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</th>
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<th>
|
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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Xp22.2
|
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</span>
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</td>
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<td>
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<span class="mim-font">
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Spondyloepiphyseal dysplasia tarda
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</span>
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</td>
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<td>
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<span class="mim-font">
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313400
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</span>
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</td>
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<td>
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<span class="mim-font">
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X-linked recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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3
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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TRAPPC2
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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300202
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
|
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<p>A number sign (#) is used with this entry because spondyloepiphyseal dysplasia tarda is caused by mutation in the SEDL (TRAPPC2) gene (300202) on chromosome Xp22.</p>
|
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</span>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Clinical Features</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
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<p>Bannerman et al. (1971) cited early reports of this disorder (e.g., Nilsonne, 1927; Barber, 1960) and reviewed the clinical features in a large American family of English origin originally described by Jacobsen (1939). They described the major features of the disorder as short stature first evident between 5 and 14 years of age; shortness due to impaired growth of the spine; radiologically, characteristic flattening of vertebrae with central humping; dysplastic changes of femoral heads and neck; and minor changes in other bones. Bony changes lead to secondary osteoarthritis, which becomes troublesome in the forties and may be disabling in the sixties. Bannerman (1981) reviewed this material and concluded that heterozygotes show no abnormality such as short stature. Several females had arthritic complaints; e.g., M.Z., the daughter and mother of affected males, had considerable 'arthritis' from age 33 years and by age 51 had almost no movement in either hip and, by x-ray, bony fusion of the left hip. </p><p>The radiographic features of this disorder are so distinctive that the diagnosis seems unequivocal in the sexually normal, 29-year-old woman (with normal XX karyotype including banding) reported by Monteiro de Pina Neto et al. (1982). No other persons in the family were affected. The authors suggested that she was heterozygous and that chance lyonization of most X chromosomes with the normal allele had occurred.</p><p>Heuertz et al. (1993) suggested that this disorder was first described by Maroteaux et al. (1957) in a study of 3 large kindreds with 11 affected persons. The disorder is characterized by short stature which becomes evident between 10 and 14 years of age and leads to an average adult height of 1.45 m. Radiologic diagnosis cannot be established before 4 to 6 years of age. Bone changes of the femoral head lead to secondary osteoarthritis during adulthood and some patients require total arthroplasty of the hip before the age of 40 years. </p><p>Whyte et al. (1999) described the clinical and radiographic evaluation of a second large American kindred with X-linked recessive SEDT, the first such family being the classic family reported by Jacobsen (1939). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Population Genetics</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
|
<p>Wynne-Davies and Gormley (1985) estimated the prevalence of SEDT to be 1 per 100,000 in a Scottish population. </p>
|
|
</span>
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<div>
|
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<br />
|
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p>Cosegregation of SEDT and deutan colorblindness (303800) suggested to Kousseff et al. (1986) that the SEDT locus is in the Xq28 band. Szpiro-Tapia et al. (1988) excluded linkage with markers in region Xq28. They found linkage to DXS41 (maximum lod = 3.07 at theta = 0.08), located in Xp22.1, and DXS92 (maximum lod = 2.95 at theta = 0.05). DXS92 had been thought to be located at Xq26-q27; hybridization to cells containing X chromosome fragments, however, excluded location on Xq and on the proximal part of Xp. Szpiro-Tapia et al. (1988) concluded that DXS92 is located on Xp between Xp11.21 and Xpter. Reference was made to another family with linkage mapping to the same region of Xp. It is of interest that Bannerman et al. (1971), studying the original family reported by Jacobsen (1939) in Buffalo, found a suggestion of linkage to Xg blood group, which would be consistent with the findings of the recent study. </p><p>Heuertz et al. (1993) extended the studies of Szpiro-Tapia et al. (1988) by analyzing 15 families with 13 markers from the Xp22 region. Multipoint linkage analysis indicated that the SEDT mutation is located between DXS16 and DXS92. </p><p>Bernard et al. (1996) presented linkage data using microsatellite markers on 2 Canadian X-linked SED families, one of Norwegian descent and the other from Great Britain. Support of the previous localization was obtained. One family showed a maximal lod score of 3.0 at theta = 0.0 with marker DXS1043 and the other family had a maximal lod score of 1.2 at theta = 0.0 with markers DXS1224 and DXS418. </p><p>Gedeon et al. (1999) confirmed and refined the localization of SEDT to an interval of less than 170 kb by critical recombination events at DXS16 and AFMa124wc1 in 2 families. </p>
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<h4>
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<span class="mim-font">
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<strong>Pathogenesis</strong>
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<span class="mim-text-font">
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<p>Venditti et al. (2012) found that TANGO1 (613455) recruits sedlin (300202), a TRAPP component that is defective in spondyloepiphyseal dysplasia tarda, and that sedlin is required for the endoplasmic reticulum (ER) export of procollagen, prefibrils of which are too large to fit into typical COPII vesicles. Sedlin bound and promoted efficient cycling of SAR1 (603379), a guanosine triphosphate that can constrict membranes, and thus allowed nascent carriers to grow and incorporate procollagen prefibrils. This joint action of TANGO1 and Sedlin sustained the ER export of procollagen, and its derangement may explain the defective chondrogenesis underlying SEDT. </p>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</h4>
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<span class="mim-text-font">
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<p>Gedeon et al. (1999) detected 3 dinucleotide deletions in the SEDL gene (300202.0001-300202.0003), resulting in frameshifts and premature stop codons, in 3 Australian families with SEDT. </p><p>In an Ashkenazi Jewish family with SEDT, Bar-Yosef et al. (2004) identified a single nucleotide deletion at position 613 in the SEDL gene (300202.0011). The authors stated that this was the first report of an SEDL mutation in a Jewish family. </p>
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<div>
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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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Bannerman (1969); Barber (1960); Branford et al. (1982); Hobaek
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(1961); Iceton and Horne (1986); Lamy and Maroteaux (1960); Langer
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(1964)
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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</div>
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<li>
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<p class="mim-text-font">
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Bannerman, R. M., Ingall, G. B., Mohn, J. F.
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<strong>X-linked spondyloepiphyseal dysplasia tarda: clinical and linkage data.</strong>
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J. Med. Genet. 8: 291-301, 1971.
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[PubMed: 4999590]
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[Full Text: https://doi.org/10.1136/jmg.8.3.291]
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<p class="mim-text-font">
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Bannerman, R. M.
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<strong>X-linked spondyloepiphyseal dysplasia tarda (SDT).</strong>
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Birth Defects Orig. Art. Ser. V(4): 48-51, 1969.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bannerman, R. M.
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<strong>Personal Communication.</strong>
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Buffalo, N. Y. 10/13/1981.
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<li>
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<p class="mim-text-font">
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Bar-Yosef, U., Ohana, E., Hershkovitz, E., Perlmuter, S., Ofir, R., Birk, O. S.
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<strong>X-linked spondyloepiphyseal dysplasia tarda: a novel SEDL mutation in a Jewish Ashkenazi family and clinical intervention considerations.</strong>
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<p class="mim-text-font">
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Barber, H. S.
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<strong>An unusual form of familial osteodystrophy.</strong>
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Lancet 275: 1220-1221, 1960. Note: Originally Volume I.
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[PubMed: 13796581]
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[Full Text: https://doi.org/10.1016/s0140-6736(60)91101-6]
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</p>
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<li>
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<p class="mim-text-font">
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Barber, H. S.
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<strong>An unusual form of familial osteodystrophy. (Letter)</strong>
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Lancet 276: 154-155, 1960. Note: Originally Volume II.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bernard, L. E., Chitayat, D., Weksberg, R., Van Allen, M. I., Langlois, S.
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<strong>Linkage analysis of two Canadian families segregating for X linked spondyloepiphyseal dysplasia.</strong>
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J. Med. Genet. 33: 432-434, 1996.
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[PubMed: 8733060]
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[Full Text: https://doi.org/10.1136/jmg.33.5.432]
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</li>
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<p class="mim-text-font">
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Branford, W. A., Beveridge, G. W., Wynne-Davies, R.
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<strong>Two first cousins with spondyloepiphyseal dysplasia tarda (X linked recessive form), one also with poikiloderma atrophicans vasculare progressing to lymphocytic lymphoma.</strong>
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J. Med. Genet. 19: 210-213, 1982.
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[PubMed: 6809944]
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[Full Text: https://doi.org/10.1136/jmg.19.3.210]
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Gedeon, A. K., Colley, A., Jamieson, R., Thompson, E. M., Rogers, J., Sillence, D., Tiller, G. E., Mulley, J. C., Gecz, J.
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<strong>Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.</strong>
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Nature Genet. 22: 400-404, 1999.
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[PubMed: 10431248]
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[Full Text: https://doi.org/10.1038/11976]
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<p class="mim-text-font">
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Heuertz, S., Nelen, M., Wilkie, A. O. M., Le Merrer, M., Delrieu, O., Larget-Piet, L., Tranebjaerg, L., Bick, D., Hamel, B., Van Oost, B. A., Maroteaux, P., Hors-Cayla, M.-C.
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<strong>The gene for spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DXS92.</strong>
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Genomics 18: 100-104, 1993.
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[PubMed: 7903956]
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[Full Text: https://doi.org/10.1006/geno.1993.1431]
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Hobaek, A.
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<strong>Problems of Hereditary Chondrodysplasia.</strong>
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Oslo: Oslo Univ. Press (pub.) 1961.
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<p class="mim-text-font">
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Iceton, J. A., Horne, G.
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<strong>Spondylo-epiphyseal dysplasia tarda: the X-linked variety in three brothers.</strong>
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[PubMed: 3733841]
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[Full Text: https://doi.org/10.1302/0301-620X.68B4.3733841]
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<p class="mim-text-font">
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Jacobsen, A. W.
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<strong>Hereditary osteochondro-dystrophia deformans: a family with twenty members affected in five generations.</strong>
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JAMA 113: 121-124, 1939.
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Kousseff, B. G., Hummel, M., Phillips, J., III, Murphy, P.
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<strong>Spondyloepiphyseal dysplasia tarda and deutan color blindness in a family. (Abstract)</strong>
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7th International Congress of Human Genetics, Berlin 1986. P. 258.
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Lamy, M., Maroteaux, P.
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<strong>Les chondrodystrophies genotypiques.</strong>
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Paris: L'Expansion (pub.) 1960. P. 67ff.
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<p class="mim-text-font">
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Langer, L. O., Jr.
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<strong>Spondyloepiphyseal dysplasia tarda: hereditary chondrodysplasia with characteristic vertebral configuration in the adult.</strong>
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Radiology 82: 833-839, 1964.
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[PubMed: 14153674]
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Maroteaux, P., Lamy, M., Bernard, J.
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<strong>La dysplasie spondylo-epiphysaire tardive.</strong>
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Presse Med. 65: 1205-1208, 1957.
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Monteiro de Pina Neto, J., Bonfim, M. D., Ferrari, I.
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<strong>Classic X-linked spondyloepiphyseal dysplasia tarda in a woman with normal karyotype. In: Papadatos, C. J.; Bartsocas, C. S.: Skeletal Dysplasias.</strong>
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New York: Alan R. Liss (pub.) 1982. Pp. 127-132.
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Nilsonne, H.
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<strong>Eigentuemliche Wirbelkorper-veraenderungen mit familiaerem Auftreten.</strong>
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Szpiro-Tapia, S., Sefiani, A., Guilloud-Bataille, M., Heuertz, S., LeMarec, B., Frezal, J., Maroteaux, P., Hors-Cayla, M. C.
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<strong>Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the distal short arm of the X chromosome.</strong>
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Hum. Genet. 81: 61-63, 1988.
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Venditti, R., Scanu, T., Santoro, M., Di Tullio, G., Spaar, A., Gaibisso, R., Beznoussenko, G. V., Mironov, A. A., Mironov, A., Jr., Zelante, L., Piemontese, M. R., Notarangelo, A., Malhotra, V., Vertel, B. M., Wilson, C., De Matteis, M. A.
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<strong>Sedlin controls the ER export of procollagen by regulating the Sar1 cycle.</strong>
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Science 337: 1668-1672, 2012.
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Whyte, M. P., Gottesman, G. S., Eddy, M. C., McAlister, W. H.
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<strong>X-linked recessive spondyloepiphyseal dysplasia tarda: clinical and radiographic evolution in a 6-generation kindred and review of the literature.</strong>
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<p class="mim-text-font">
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Wynne-Davies, R., Gormley, J.
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<strong>The prevalence of skeletal dysplasias: an estimate of their minimum frequency and the number of patients requiring orthopaedic care.</strong>
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Ada Hamosh - updated : 10/24/2012<br>Marla J. F. O'Neill - updated : 5/18/2004<br>Ada Hamosh - updated : 8/2/1999<br>Victor A. McKusick - updated : 4/26/1999
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Victor A. McKusick : 6/4/1986
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carol : 02/01/2017<br>carol : 07/19/2016<br>alopez : 10/25/2012<br>terry : 10/24/2012<br>terry : 1/13/2011<br>carol : 9/14/2010<br>terry : 5/11/2010<br>carol : 9/24/2009<br>terry : 6/3/2009<br>terry : 3/31/2009<br>carol : 5/19/2004<br>terry : 5/18/2004<br>alopez : 3/2/2000<br>carol : 2/26/2000<br>alopez : 8/4/1999<br>terry : 8/2/1999<br>alopez : 5/10/1999<br>terry : 4/26/1999<br>mark : 7/9/1996<br>terry : 6/28/1996<br>davew : 7/18/1994<br>terry : 6/14/1994<br>warfield : 4/20/1994<br>pfoster : 3/30/1994<br>mimadm : 2/28/1994<br>carol : 11/24/1993
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