3428 lines
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3428 lines
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Entry
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- #302950 - CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1
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- OMIM
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<p>
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<span class="h4">#302950</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/302950"><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="#cytogenetics">Cytogenetics</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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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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</a>
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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=CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE" 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=11371&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/NBK1544/" 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/1367" 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-chondrodysplasia-punctata-1" 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=302950[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=79345" 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/2272425c-b95c-414b-b43e-d4564e1cf36d/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 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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</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:0060292" 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/302950" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:0060292" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</a>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:302950" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<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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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 778067002<br />
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<strong>ORPHA:</strong> 79345<br />
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<strong>DO:</strong> 0060292<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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302950
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</span>
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</span>
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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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CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1
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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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CPXR<br />
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CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
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<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/X/29?start=-3&limit=10&highlight=29">
|
|
Xp22.33
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Chondrodysplasia punctata, X-linked recessive
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/302950"> 302950 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
ARSL
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/300180"> 300180 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
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|
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|
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<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/302950" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/302950" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/302950" 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">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- X-linked recessive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845977&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845977</a>, <a href="https://bioportal.bioontology.org/search?q=C1279481&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1279481</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001419</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Height </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Head </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Microcephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551563</a>, <a href="https://bioportal.bioontology.org/search?q=C0025958&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025958</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Microcephaly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hearing loss <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/103276001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">103276001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/343087000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">343087000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15188001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15188001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H91.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011053&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011053</a>, <a href="https://bioportal.bioontology.org/search?q=C0018772&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018772</a>, <a href="https://bioportal.bioontology.org/search?q=C1384666&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1384666</a>, <a href="https://bioportal.bioontology.org/search?q=C3887873&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887873</a>, <a href="https://bioportal.bioontology.org/search?q=C2029884&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2029884</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cataracts <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193570009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193570009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247053007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247053007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95722004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95722004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H26.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H26.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/366" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/366.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0086543&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086543</a>, <a href="https://bioportal.bioontology.org/search?q=C0521707&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521707</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nose </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Nasal hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854114&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854114</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003196" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003196</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003196" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003196</a>]</span><br /> -
|
|
Depressed nasal bridge <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836542&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836542</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005280</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005280</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=7043769fd21a78a413fd758918cdda17" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Nasal_Bridge,Depressed-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=7043769fd21a78a413fd758918cdda17" 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 /> -
|
|
Short nasal septum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844857&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844857</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000420" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000420</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000420" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000420</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> GENITOURINARY </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> External Genitalia (Male) </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Hypogonadism (in contiguous gene syndrome patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48130008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48130008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020619&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020619</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000135" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000135</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000135" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000135</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> SKELETAL </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Spine </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Paravertebral stippling <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844858&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844858</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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- Epiphyseal stippling <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859126&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859126</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010655" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010655</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010655" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010655</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> Hands </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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- Distal phalangeal hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839829&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839829</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009882</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009882</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> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Skin </em>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
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|
- Ichthyosis (in contiguous gene syndrome patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/782957005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">782957005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13059002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13059002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q80.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q80.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q80" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q80</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/757.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">757.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020758</a>, <a href="https://bioportal.bioontology.org/search?q=C0020757&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020757</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008064" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008064</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008064" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008064</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Central Nervous System </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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|
|
- Developmental delay <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248290002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248290002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/224958001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">224958001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F88</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/315.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">315.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0557874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0557874</a>, <a href="https://bioportal.bioontology.org/search?q=C0424605&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424605</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span><br /> -
|
|
Anosmia (in contiguous gene syndrome patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44169009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44169009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R43.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R43.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003126&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003126</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000458" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000458</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000458" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000458</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
|
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<span class="mim-font">
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|
|
- Some patients have a contiguous gene syndrome due to loss of adjacent genes (STS, <a href="/entry/308100">308100</a> and KAL1, <a href="/entry/300836">300836</a>) on Xp22.3 via deletions and translocations<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
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<span class="mim-font">
|
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|
|
- Caused by mutation in the arylsulfatase L gene (ARSL, <a href="/entry/300180#0001">300180.0001</a>)<br />
|
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</span>
|
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</div>
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</div>
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</div>
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<div class="text-right">
|
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
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</div>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that X-linked recessive chondrodysplasia punctata-1 (CDPX1) is caused by mutation in the ARSE gene (ARSL; <a href="/entry/300180">300180</a>) on chromosome Xp22.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of CDP, see CDPX2 (<a href="/entry/302960">302960</a>).</p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
|
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Clinical Features</strong>
|
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</span>
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</h4>
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</div>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#22" class="mim-tip-reference" title="Sheffield, L. J., Danks, D. M., Mayne, V., Hutchinson, L. A. <strong>Chondrodysplasia punctata--23 cases of a mild and relatively common variety.</strong> J. Pediat. 89: 916-923, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/993917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">993917</a>] [<a href="https://doi.org/10.1016/s0022-3476(76)80596-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="993917">Sheffield et al. (1976)</a> reported 23 patients who presented in infancy with failure to thrive, apparent mental retardation, and atypical facies. Diagnosis was confirmed by finding punctate calcifications in radiographs of the feet and other sites. Seventeen patients were male, and <a href="#22" class="mim-tip-reference" title="Sheffield, L. J., Danks, D. M., Mayne, V., Hutchinson, L. A. <strong>Chondrodysplasia punctata--23 cases of a mild and relatively common variety.</strong> J. Pediat. 89: 916-923, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/993917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">993917</a>] [<a href="https://doi.org/10.1016/s0022-3476(76)80596-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="993917">Sheffield et al. (1976)</a> suggested an X-linked recessive inheritance. Four of their patients showed hypoplasia of the distal phalanges, which was ascribed to Dilantin in 2 cases in which the mothers had a history of use of that drug during gestation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=993917" 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="Curry, C. <strong>Personal Communication.</strong> Fresno, Calif. 11/9/1979."None>Curry (1979)</a> observed a kindred with 2 affected brothers and 1 of their maternal uncles. She suggested that hypoplasia of the distal phalanges is a distinctive feature. One of the brothers was stillborn and showed nasal hypoplasia and distal phalangeal hypoplasia. The uncle required bilateral choanal tubes during the first weeks of life because of severely hypoplastic nose. At birth the skin was bright red with generalized scales which desquamated in large sheets. The skin lesions subsequently had the appearance of ichthyosis. He was retarded (in the educable range) and deaf. In the family of <a href="#9" class="mim-tip-reference" title="Curry, C. <strong>Personal Communication.</strong> Fresno, Calif. 11/9/1979."None>Curry (1979)</a>, the presumed carrier females showed no radiologic abnormality, thus suggesting an X-linked recessive form.</p><p><a href="#14" class="mim-tip-reference" title="Maroteaux, P. <strong>Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form.</strong> Hum. Genet. 82: 167-170, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2722194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2722194</a>] [<a href="https://doi.org/10.1007/BF00284052" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2722194">Maroteaux (1989)</a> described 4 cases of chondrodysplasia punctata with hypoplasia of the distal phalanges of the fingers. He designated the disorder brachytelephalangic chondrodysplasia punctata. Growth disturbance was moderate without asymmetry of the limbs, and the facial dysmorphism was similar to that in a condition <a href="#14" class="mim-tip-reference" title="Maroteaux, P. <strong>Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form.</strong> Hum. Genet. 82: 167-170, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2722194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2722194</a>] [<a href="https://doi.org/10.1007/BF00284052" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2722194">Maroteaux (1989)</a> referred to as 'Binder's maxillo-facial dysostosis.' Generalized involvement of the vertebral bodies with calcifications was never seen. The cases represented a benign form of chondrodysplasia punctata. The phalangeal anomaly is important to the diagnosis after the second and third years of life, when the epiphyseal stippling is no longer present. <a href="#14" class="mim-tip-reference" title="Maroteaux, P. <strong>Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form.</strong> Hum. Genet. 82: 167-170, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2722194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2722194</a>] [<a href="https://doi.org/10.1007/BF00284052" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2722194">Maroteaux (1989)</a> pointed out that the facial features and even the distal phalangeal hypoplasia are similar to those reported by <a href="#8" class="mim-tip-reference" title="Curry, C. J. R., Magenis, R. E., Brown, M., Lanman, J. T., Jr., Tsai, J., O'Lague, P., Goodfellow, P., Mohandas, T., Bergner, E. A., Shapiro, L. J. <strong>Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome.</strong> New Eng. J. Med. 311: 1010-1015, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6482910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6482910</a>] [<a href="https://doi.org/10.1056/NEJM198410183111603" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6482910">Curry et al. (1984)</a> in cases with a deletion of terminal Xp, and suggested that the affected patients, all males, may have their disorder on the basis of an isolated mutation of the same gene on Xp. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2722194+6482910" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Petit, C., Melki, J., Levilliers, J., Serville, F., Weissenbach, J., Maroteaux, P. <strong>An interstitial deletion in Xp22.3 in a family with X-linked recessive chondrodysplasia punctata and short stature.</strong> Hum. Genet. 85: 247-250, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2370057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2370057</a>] [<a href="https://doi.org/10.1007/BF00193206" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2370057">Petit et al. (1990)</a> described a 4-generation family in which chondrodysplasia punctata was found in a boy and one of his maternal uncles. These 2 patients also had short stature, as did all the female members of the family. <a href="#18" class="mim-tip-reference" title="Petit, C., Melki, J., Levilliers, J., Serville, F., Weissenbach, J., Maroteaux, P. <strong>An interstitial deletion in Xp22.3 in a family with X-linked recessive chondrodysplasia punctata and short stature.</strong> Hum. Genet. 85: 247-250, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2370057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2370057</a>] [<a href="https://doi.org/10.1007/BF00193206" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2370057">Petit et al. (1990)</a> emphasized and illustrated the occurrence of short distal phalanges in this condition, especially in the 25-year-old uncle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2370057" 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="Elcioglu, N., Hall, C. M. <strong>Maternal systemic lupus erythematosus and chondrodysplasia punctata in two sibs: phenocopy or coincidence?</strong> J. Med. Genet. 35: 690-694, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9719382/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9719382</a>] [<a href="https://doi.org/10.1136/jmg.35.8.690" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9719382">Elcioglu and Hall (1998)</a> reported 2 sibs with features consistent with a diagnosis of either chondrodysplasia punctata, metacarpal type or chondrodysplasia, brachytelephalangic type, one of whom was stillborn at 36 weeks and one of whom miscarried at 24 weeks, from a mother with systemic lupus erythematosus (SLE; <a href="/entry/152700">152700</a>). <a href="#2" class="mim-tip-reference" title="Austin-Ward, E., Castillo, S., Cuchacovich, M., Espinoza, A., Cofre-Beca, J., Gonzalez, S, Solivelles, X., Bloomfield, J. <strong>Neonatal lupus syndrome: a case with chondrodysplasia punctata and other unusual manifestations.</strong> J. Med. Genet. 35: 695-697, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9719383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9719383</a>] [<a href="https://doi.org/10.1136/jmg.35.8.695" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9719383">Austin-Ward et al. (1998)</a> reported a child with chondrodysplasia punctata (<a href="/entry/118651">118651</a>) and other congenital anomalies resembling those associated with the use of oral anticoagulants, but with no history of exposure, who was born to a mother with systemic lupus erythematosus. Both <a href="#10" class="mim-tip-reference" title="Elcioglu, N., Hall, C. M. <strong>Maternal systemic lupus erythematosus and chondrodysplasia punctata in two sibs: phenocopy or coincidence?</strong> J. Med. Genet. 35: 690-694, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9719382/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9719382</a>] [<a href="https://doi.org/10.1136/jmg.35.8.690" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9719382">Elcioglu and Hall (1998)</a> and <a href="#2" class="mim-tip-reference" title="Austin-Ward, E., Castillo, S., Cuchacovich, M., Espinoza, A., Cofre-Beca, J., Gonzalez, S, Solivelles, X., Bloomfield, J. <strong>Neonatal lupus syndrome: a case with chondrodysplasia punctata and other unusual manifestations.</strong> J. Med. Genet. 35: 695-697, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9719383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9719383</a>] [<a href="https://doi.org/10.1136/jmg.35.8.695" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9719383">Austin-Ward et al. (1998)</a>, as well as <a href="#24" class="mim-tip-reference" title="Toriello, H. V. <strong>Chondrodysplasia punctata and maternal systemic lupus erythematosus. (Commentary)</strong> J. Med. Genet. 35: 698-699, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9719384/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9719384</a>] [<a href="https://doi.org/10.1136/jmg.35.8.698" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9719384">Toriello (1998)</a> in a commentary on these 2 papers, concluded that there was an association between chondrodysplasia punctata and maternal systemic lupus erythematosus. <a href="#13" class="mim-tip-reference" title="Kozlowski, K., Basel, D., Beighton, P. <strong>Chondrodysplasia punctata in siblings and maternal lupus erythematosus.</strong> Clin. Genet. 66: 545-549, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15521983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15521983</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2004.00364.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15521983">Kozlowski et al. (2004)</a> described 2 brothers with chondrodysplasia punctata, whose mother had longstanding lupus erythematosus and epilepsy, for which she had been treated with chloroquine and other therapeutic agents during both pregnancies. <a href="#13" class="mim-tip-reference" title="Kozlowski, K., Basel, D., Beighton, P. <strong>Chondrodysplasia punctata in siblings and maternal lupus erythematosus.</strong> Clin. Genet. 66: 545-549, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15521983/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15521983</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2004.00364.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15521983">Kozlowski et al. (2004)</a> pointed to 7 previously reported instances of the association between chondrodysplasia punctata and maternal SLE. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9719382+9719383+15521983+9719384" 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="#28" class="mim-tip-reference" title="Woods, E., Yates, M., Kanani, F., Balasubramanian, M. <strong>Uniparental disomy as a mechanism for X-linked chondrodysplasia punctata.</strong> Clin. Dysmorph. 31: 132-135, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35256563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35256563</a>] [<a href="https://doi.org/10.1097/MCD.0000000000000419" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35256563">Woods et al. (2022)</a> reported a girl with CDPX1 due to uniparental isodisomy of the X chromosome. Her brother had died at age 1 month from respiratory complications of the disorder. Prenatal ultrasound identified polyhydramnios, a flattened nasal bridge, and the possibility of a cleft palate. She did well at birth, but at 3 days of life, she presented with respiratory distress and feeding difficulty. On physical examination, she had low-set ears, a flattened nasal bridge with crescent-shaped nostrils, and noisy breathing. Chest x-ray showed stippled epiphyses at the humeral heads and ribs. On nasal endoscopy, she had a small cartilaginous anterior nasal cavity. She had mild conductive hearing loss. On neuroimaging, she had good alignment of the C-spine with some ossification, more marked in the upper thoracic spine. At 6 months of age, she had normal tone and was feeding, growing, and developing appropriately. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35256563" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#7" class="mim-tip-reference" title="Curry, C. J. R., Lanman, J. T., Jr., Magenis, R. E., Brown, M. G., Bergner, E. A., Shapiro, L. J. <strong>X-linked chondrodysplasia punctata with ichthyosis: chromosomal localization to Xp. (Abstract)</strong> Am. J. Hum. Genet. 34: 122A, 1982."None>Curry et al. (1982)</a> concluded that X-linked chondrodysplasia punctata may be determined by a locus at Xp22.32. Two families were studied, each with 2 affected males. Because atypical ichthyosis was a feature, the steroid sulfatase system was investigated. All 4 had greatly elevated cholesterol sulfate; this measure was normal in carrier females. In both of the males studied, cultured fibroblasts showed steroid sulfatase deficiency. High-resolution cytogenetics showed a small deletion at Xp22.32 in all 4 affected males, their carrier mothers, and several potential carrier females. <a href="#8" class="mim-tip-reference" title="Curry, C. J. R., Magenis, R. E., Brown, M., Lanman, J. T., Jr., Tsai, J., O'Lague, P., Goodfellow, P., Mohandas, T., Bergner, E. A., Shapiro, L. J. <strong>Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome.</strong> New Eng. J. Med. 311: 1010-1015, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6482910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6482910</a>] [<a href="https://doi.org/10.1056/NEJM198410183111603" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6482910">Curry et al. (1984)</a> reported that the steroid sulfatase (STS; <a href="/entry/300747">300747</a>), XG (<a href="/entry/300879">300879</a>), and MIC2X (<a href="/entry/313470">313470</a>) loci were also deleted. The women carrying the deletion had normal gonadal function and fertility but were shorter of stature than noncarriers in their families (p less than 0.00001). The skin lesions resembled those of X-linked ichthyosis (<a href="/entry/308100">308100</a>). The deletion in the family reported by <a href="#5" class="mim-tip-reference" title="Bick, D., Curry, C. J. R., McGill, J. R., Schorderet, D. F., Bux, R. C., Moore, C. M. <strong>Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion.</strong> Am. J. Med. Genet. 33: 100-107, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2750777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2750777</a>] [<a href="https://doi.org/10.1002/ajmg.1320330114" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2750777">Bick et al. (1989)</a> was larger than that described by <a href="#8" class="mim-tip-reference" title="Curry, C. J. R., Magenis, R. E., Brown, M., Lanman, J. T., Jr., Tsai, J., O'Lague, P., Goodfellow, P., Mohandas, T., Bergner, E. A., Shapiro, L. J. <strong>Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome.</strong> New Eng. J. Med. 311: 1010-1015, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6482910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6482910</a>] [<a href="https://doi.org/10.1056/NEJM198410183111603" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6482910">Curry et al. (1984)</a> and included the Kallmann gene (KAL1; <a href="/entry/300836">300836</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6482910+2750777" 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>By a study of cases of various deletions of Xp, <a href="#3" class="mim-tip-reference" title="Ballabio, A., Bardoni, B., Carrozzo, R., Andria, G., Bick, D., Campbell, L., Hamel, B., Ferguson-Smith, M. A., Gimelli, G., Fraccaro, M., Maraschio, P., Zuffardi, O., Guioli, S., Camerino, G. <strong>Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.</strong> Proc. Nat. Acad. Sci. 86: 10001-10005, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2602357/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2602357</a>] [<a href="https://doi.org/10.1073/pnas.86.24.10001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2602357">Ballabio et al. (1989)</a> concluded that CPXR is located just proximal to MIC2 in the most distal portion of Xp, which is pseudoautosomal. <a href="#4" class="mim-tip-reference" title="Ballabio, A., Zollo, M., Carrozzo, R., Caiulo, A., Zuffardi, O., Cascioli, C. F., Viggiano, D., Strisciuglio, P. <strong>Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency.</strong> Am. J. Med. Genet. 41: 184-187, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1785631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1785631</a>] [<a href="https://doi.org/10.1002/ajmg.1320410210" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1785631">Ballabio et al. (1991)</a> described a male infant with short stature, chondrodysplasia punctata, and ichthyosis due to steroid sulfatase deficiency. Deletion of the distal short arm of the X chromosome had been inherited from the mother who had a balanced reciprocal translocation between 9p and Xp. This was evidence of close situation of the STS locus and the CDPX1 locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2602357+1785631" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#29" class="mim-tip-reference" title="Wulfsberg, E. A., Curtis, J., Jayne, C. H. <strong>Chondrodysplasia punctata: a boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders.</strong> Am. J. Med. Genet. 43: 823-828, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1642270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1642270</a>] [<a href="https://doi.org/10.1002/ajmg.1320430514" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1642270">Wulfsberg et al. (1992)</a> described X-linked recessive chondrodysplasia punctata as part of a contiguous Xp gene deletion syndrome including the CDPX1 gene, a nonspecific X-linked mental retardation gene, the STS gene, and the Kallmann syndrome gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1642270" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Agematsu, K., Koike, K., Morosawa, H., Nakahori, Y., Nakagome, Y., Akabane, T. <strong>Chondrodysplasia punctata with X;Y translocation.</strong> Hum. Genet. 80: 105-107, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3417299/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3417299</a>] [<a href="https://doi.org/10.1007/BF00451470" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3417299">Agematsu et al. (1988)</a> described mother and son who were carrying an extra piece on the short arm of the X chromosome, identified as having derived from the long arm of the Y chromosome by means of in situ hybridization with a Y-chromosome-specific DNA probe. The son had punctate epiphyseal calcifications, mildly short limbs, flattened nasal bridge, and mental retardation. The mother was somewhat short of stature and was said to have mildly short arms but no punctate calcifications. It is difficult to suggest that the mother was affected. During the early weeks of life, the son suffered from severe respiratory distress attributed to the small nasal airway and laryngomalacia with stippling of the laryngeal cartilages. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3417299" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Maroteaux, P. <strong>Brachytelephalangic chondrodysplasia punctata: a possible X-linked recessive form.</strong> Hum. Genet. 82: 167-170, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2722194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2722194</a>] [<a href="https://doi.org/10.1007/BF00284052" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2722194">Maroteaux (1989)</a> reported that DNA molecular analysis of pseudoautosomal and Xp22.3-specific loci showed an interstitial deletion that cosegregated with the phenotypic abnormalities. The deletion lay at the boundary of the pseudoautosomal region. The fact that the patients had neither ichthyosis nor Kallmann syndrome indicates that these loci are located more proximally. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2722194" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="Seidel, J., Schiller, S., Kelbova, C., Beensen, V., Orth, U., Vogt, S., Claussen, U., Zintl, F., Rappold, G. A. <strong>Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation.</strong> Clin. Genet. 59: 115-121, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11260213/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11260213</a>] [<a href="https://doi.org/10.1034/j.1399-0004.2001.590209.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11260213">Seidel et al. (2001)</a> described an 8-year-old male with mesomelic shortening of forearms and legs, brachytelephalangy, and ichthyotic skin lesions. Chromosomal analysis showed an X;Y translocation involving the short arm of the X chromosome. Fluorescence in situ hybridization and molecular studies localized the breakpoints on Xp22.3 in the immediate vicinity of the KAL gene and demonstrated deletions of steroid sulfatase, arylsulfatase E, and short stature homeobox (SHOX; <a href="/entry/312865">312865</a>) genes. It was suspected that the patient was suffering from chondrodysplasia punctata because of a loss of the ARSE gene; however, no stippled epiphyses were seen in the neonatal radiograph. Brachytelephalangy was the only result of ARSE gene deletion in this patient. The patient's mother had dwarfism and showed Madelung deformity of the forearms. She was shown to be a carrier of the same aberrant X chromosome. Her son did not show Madelung deformity, demonstrating that the Leri-Weill syndrome phenotype may be incomplete in children with SHOX gene deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11260213" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#25" class="mim-tip-reference" title="Van Maldergem, L., Espeel, M., Roels, F., Petit, C., Dacremont, G., Wanders, R. J. A., Verloes, A., Gillerot, Y. <strong>X-linked recessive chondrodysplasia punctata with XY translocation in a stillborn fetus.</strong> Hum. Genet. 87: 661-664, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1937466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1937466</a>] [<a href="https://doi.org/10.1007/BF00201721" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1937466">Van Maldergem et al. (1991)</a> confirmed the assignment of the CDPX1 gene to Xp22.3 by demonstrating the existence of a reciprocal X-Y translocation involving the region distal to Xp22.3. <a href="#26" class="mim-tip-reference" title="Weil, D., Portnoi, M.-F., Levilliers, J., Wang, I., Mathieu, M., Taillemite, J.-L., Meier, M., Boudailliez, B., Petit, C. <strong>A 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata.</strong> Hum. Molec. Genet. 2: 1853-1856, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8281147/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8281147</a>] [<a href="https://doi.org/10.1093/hmg/2.11.1853" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8281147">Weil et al. (1993)</a> studied a 13-year-old male with a 45,X karyotype and many stigmata of Turner syndrome. Y-chromosome material had been transposed to the X chromosome, which was partially deleted. The deletions on the X and Y chromosomes allowed <a href="#26" class="mim-tip-reference" title="Weil, D., Portnoi, M.-F., Levilliers, J., Wang, I., Mathieu, M., Taillemite, J.-L., Meier, M., Boudailliez, B., Petit, C. <strong>A 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata.</strong> Hum. Molec. Genet. 2: 1853-1856, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8281147/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8281147</a>] [<a href="https://doi.org/10.1093/hmg/2.11.1853" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8281147">Weil et al. (1993)</a> to map the genes responsible for most features of the Turner syndrome to the segment between DXS432 and Xqter. Since the patient had no clinical or radiographic signs of chondrodysplasia punctata, they concluded from the molecular analysis that this locus can be narrowed to an interval of 1.5 Mb between DXS432 and DXS31. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8281147+1937466" 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="#11" class="mim-tip-reference" title="Franco, B., Meroni, G., Parenti, G., Levilliers, J., Bernard, L., Gebbia, M., Cox, L., Maroteaux, P., Sheffield, L., Rappold, G. A., Andria, G., Petit, C., Ballabio, A. <strong>A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy.</strong> Cell 81: 15-25, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7720070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7720070</a>] [<a href="https://doi.org/10.1016/0092-8674(95)90367-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7720070">Franco et al. (1995)</a> cloned the genomic region within Xp22.3 where the gene related to CDPX is located and isolated 3 adjacent genes showing highly significant homology to the sulfatase gene family: arylsulfatase D (<a href="/entry/300002">300002</a>), arylsulfatase E (ARSE), and arylsulfatase F (<a href="/entry/300003">300003</a>). Point mutations in ARSE were identified in 5 patients with CDPX (<a href="/entry/300180#0001">300180.0001</a>-<a href="/entry/300180#0005">300180.0005</a>). Expression of the gene in COS cells resulted in a heat-labile arylsulfatase activity that is inhibited by warfarin. <a href="#11" class="mim-tip-reference" title="Franco, B., Meroni, G., Parenti, G., Levilliers, J., Bernard, L., Gebbia, M., Cox, L., Maroteaux, P., Sheffield, L., Rappold, G. A., Andria, G., Petit, C., Ballabio, A. <strong>A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy.</strong> Cell 81: 15-25, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7720070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7720070</a>] [<a href="https://doi.org/10.1016/0092-8674(95)90367-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7720070">Franco et al. (1995)</a> demonstrated a deficiency of a heat-labile arylsulfatase activity in patients with deletions spanning the CDPX region. Thus, <a href="#11" class="mim-tip-reference" title="Franco, B., Meroni, G., Parenti, G., Levilliers, J., Bernard, L., Gebbia, M., Cox, L., Maroteaux, P., Sheffield, L., Rappold, G. A., Andria, G., Petit, C., Ballabio, A. <strong>A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy.</strong> Cell 81: 15-25, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7720070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7720070</a>] [<a href="https://doi.org/10.1016/0092-8674(95)90367-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7720070">Franco et al. (1995)</a> determined that CDPX is caused by an inherited deficiency of a novel sulfatase. It is likely that warfarin embryopathy involves drug-induced inhibition of the same enzyme. ARSD lies telomeric to ARSE and both are transcribed toward the telomere. The authors noted that ancient duplications may be responsible for the contiguous location of genes of closely similar sequence and structure. <a href="#11" class="mim-tip-reference" title="Franco, B., Meroni, G., Parenti, G., Levilliers, J., Bernard, L., Gebbia, M., Cox, L., Maroteaux, P., Sheffield, L., Rappold, G. A., Andria, G., Petit, C., Ballabio, A. <strong>A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy.</strong> Cell 81: 15-25, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7720070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7720070</a>] [<a href="https://doi.org/10.1016/0092-8674(95)90367-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7720070">Franco et al. (1995)</a> granted the possibility that mutations in the ARSD or ARSF genes may also cause CDPX. Another member of the arylsulfatase family, ARSC, also known as steroid sulfatase, is deficient in X-linked ichthyosis. ARSA (<a href="/entry/607574">607574</a>) is deficient in metachromatic leukodystrophy (<a href="/entry/250100">250100</a>); ARSB (<a href="/entry/611542">611542</a>) is deficient in mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome; <a href="/entry/253200">253200</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7720070" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#23" class="mim-tip-reference" title="Sheffield, L. J., Osborn, A. H., Hutchison, W. M., Sillence, D. O., Forrest, S. M., White, S. J., Dahl, H.-H. M. <strong>Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata.</strong> J. Med. Genet. 35: 1004-1008, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9863597/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9863597</a>] [<a href="https://doi.org/10.1136/jmg.35.12.1004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9863597">Sheffield et al. (1998)</a> reported mutation analysis on 16 males and 2 females with what they classified as the symmetric type of chondrodysplasia punctata, including individuals from 3 multigeneration families. Mutations in ARSE were found in 3 males. No mutations were detected in the ARSD gene. Family studies showed segregation of the mutations with phenotype, establishing X-linked inheritance in the families. Asymptomatic females and males were found in these studies. <a href="#23" class="mim-tip-reference" title="Sheffield, L. J., Osborn, A. H., Hutchison, W. M., Sillence, D. O., Forrest, S. M., White, S. J., Dahl, H.-H. M. <strong>Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata.</strong> J. Med. Genet. 35: 1004-1008, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9863597/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9863597</a>] [<a href="https://doi.org/10.1136/jmg.35.12.1004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9863597">Sheffield et al. (1998)</a> concluded that clinical presentation varied not only between unrelated affected males but also between affected males within the same family, and that the clinical diagnosis of chondrodysplasia punctata in adults can be difficult. <a href="#23" class="mim-tip-reference" title="Sheffield, L. J., Osborn, A. H., Hutchison, W. M., Sillence, D. O., Forrest, S. M., White, S. J., Dahl, H.-H. M. <strong>Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata.</strong> J. Med. Genet. 35: 1004-1008, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9863597/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9863597</a>] [<a href="https://doi.org/10.1136/jmg.35.12.1004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9863597">Sheffield et al. (1998)</a> also discussed the nosology of the chondrodysplasia punctata group. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9863597" 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 16 male patients with CDPX1, <a href="#6" class="mim-tip-reference" title="Brunetti-Pierri, N., Andreucci, M. V., Tuzzi, R., Vega, G. R., Gray, G., McKeown, C., Ballabio, A., Andria, G., Meroni, G., Parenti, G. <strong>X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability.</strong> Am. J. Med. Genet. 117A: 164-168, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12567415/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12567415</a>] [<a href="https://doi.org/10.1002/ajmg.a.10950" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12567415">Brunetti-Pierri et al. (2003)</a> performed direct sequencing of the ARSE gene and identified mutations in 12 of them (see <a href="/entry/300180#0007">300180.0007</a>-<a href="/entry/300180#0008">300180.0008</a>). Clinical variability was observed among the patients, including severe presentation with early lethality in one, and unusual features such as cataracts, sensorineural deafness, and respiratory distress. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12567415" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Nino, M., Matos-Miranda, C., Maeda, M., Chen, L., Allanson, J., Armour, C., Greene, C., Kamaluddeen, M., Rita, D., Medne, L., Zackai, E., Mansour, S., Superti-Furga, A., Lewanda, A., Bober, M., Rosenbaum, K., Braverman, N. <strong>Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata.</strong> Am. J. Med. Genet. 146A: 997-1008, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18348268/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18348268</a>] [<a href="https://doi.org/10.1002/ajmg.a.32159" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18348268">Nino et al. (2008)</a> evaluated the ARSE gene in 11 patients with a suspected clinical diagnosis of CDPX1 based on the diagnostic criteria of male sex, nasomaxillary hypoplasia, brachytelephalangy, and radiologic evidence of chondrodysplasia punctata. Mutations were identified in 7. Three of the remaining 4 individuals had underlying maternal conditions, including maternal pancreatitis and autoimmune disease involving several organs, that further expand the phenocopy group. <a href="#16" class="mim-tip-reference" title="Nino, M., Matos-Miranda, C., Maeda, M., Chen, L., Allanson, J., Armour, C., Greene, C., Kamaluddeen, M., Rita, D., Medne, L., Zackai, E., Mansour, S., Superti-Furga, A., Lewanda, A., Bober, M., Rosenbaum, K., Braverman, N. <strong>Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata.</strong> Am. J. Med. Genet. 146A: 997-1008, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18348268/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18348268</a>] [<a href="https://doi.org/10.1002/ajmg.a.32159" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18348268">Nino et al. (2008)</a> compared the clinical features of 31 patients with documented ARSE deficiency and 27 patients with presumed phenocopies of CDPX1. Distinguishing features included the increased occurrence of maternal complications, preterm delivery, and infant demise in the phenocopy group. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18348268" 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="#15" class="mim-tip-reference" title="Matos-Miranda, C., Nimmo, G., Williams, B., Tysoe, C., Owens, M., Bale, S., Braverman, N. <strong>A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies.</strong> Genet. Med. 15: 650-657, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23470839/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23470839</a>] [<a href="https://doi.org/10.1038/gim.2013.13" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23470839">Matos-Miranda et al. (2013)</a> reported the results of a Collaboration Education and Test Translation (CETT) program for CDPX1 from 2008 to 2010. Of 29 male probands identified, 17 had ARSE mutations (58%) including 10 novel missense alleles and 1 single-codon deletion. All mutant alleles had negligible ARSE activity, and there were no obvious genotype-phenotype correlations. Maternal etiologies were not reported in most patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23470839" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a girl with CDPX1, <a href="#28" class="mim-tip-reference" title="Woods, E., Yates, M., Kanani, F., Balasubramanian, M. <strong>Uniparental disomy as a mechanism for X-linked chondrodysplasia punctata.</strong> Clin. Dysmorph. 31: 132-135, 2022.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/35256563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">35256563</a>] [<a href="https://doi.org/10.1097/MCD.0000000000000419" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="35256563">Woods et al. (2022)</a> identified homozygosity for a deletion-insertion mutation (c.1227_1228delinsAT, NM_000047.2) in the ARSL gene, resulting in a ser41-to-cys (S41C) substitution. Her mother was heterozygous for the variant. A single-nucleotide polymorphism array suggested segmental uniparental disomy, due to either a postzygotic mechanism due to crossover between X-chromatids, or more likely, a trisomic rescue with loss of the paternal X after a maternal meiosis I error, with later crossover. The phenotype in this patient was milder than that seen in her affected brother; the authors hypothesized that this was due to residual activity of the mutated protein and the ARSE gene escaping X inactivation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=35256563" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Green1981" class="mim-tip-reference" title="Green, M. C. <strong>Genetic Variants and Strains of the Laboratory Mouse.</strong> Stuttgart: Gustav Fischer (pub.) 1981.">Green (1981)</a>; <a href="#Norwood1985" class="mim-tip-reference" title="Norwood, C., Stephan, M., Leston, W. <strong>Further delineation of X-linked dominant chondrodysplasia punctata. (Abstract)</strong> Proc. Greenwood Genet. Center 4: 130-131, 1985.">Norwood et al. (1985)</a>; <a href="#Phillips1973" class="mim-tip-reference" title="Phillips, R. J. S., Hawker, S. G., Moseley, H. J. <strong>Bare-patches, a new sex-linked gene in the mouse, associated with a high production of XO females. I. A preliminary report of breeding experiments.</strong> Genet. Res. 22: 91-99, 1973.">Phillips et al. (1973)</a>; <a href="#Phillips1974" class="mim-tip-reference" title="Phillips, R. J. S., Kaufman, M. H. <strong>Bare-patches, a new sex-linked gene in the mouse, associated with a high production of XO females. II. Investigation into the nature and mechanism of the XO production.</strong> Genet. Res. 24: 27-41, 1974.">Phillips
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and Kaufman (1974)</a>; <a href="#Wettke-Schafer1983" class="mim-tip-reference" title="Wettke-Schafer, R., Kantner, G. <strong>X-linked dominant inherited diseases with lethality in hemizygous males.</strong> Hum. Genet. 64: 1-23, 1983.">Wettke-Schafer and Kantner (1983)</a>
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[<a href="https://doi.org/10.1136/jmg.35.8.695" target="_blank">Full Text</a>]
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Ballabio, A., Bardoni, B., Carrozzo, R., Andria, G., Bick, D., Campbell, L., Hamel, B., Ferguson-Smith, M. A., Gimelli, G., Fraccaro, M., Maraschio, P., Zuffardi, O., Guioli, S., Camerino, G.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2602357/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2602357</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2602357" 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/10.1073/pnas.86.24.10001" target="_blank">Full Text</a>]
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Ballabio, A., Zollo, M., Carrozzo, R., Caiulo, A., Zuffardi, O., Cascioli, C. F., Viggiano, D., Strisciuglio, P.
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<strong>Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency.</strong>
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Am. J. Med. Genet. 41: 184-187, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1785631/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1785631</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1785631" 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.1320410210" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2750777/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2750777</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2750777" 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.1320330114" target="_blank">Full Text</a>]
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Brunetti-Pierri, N., Andreucci, M. V., Tuzzi, R., Vega, G. R., Gray, G., McKeown, C., Ballabio, A., Andria, G., Meroni, G., Parenti, G.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12567415/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12567415</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12567415" 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.10950" target="_blank">Full Text</a>]
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Curry, C. J. R., Magenis, R. E., Brown, M., Lanman, J. T., Jr., Tsai, J., O'Lague, P., Goodfellow, P., Mohandas, T., Bergner, E. A., Shapiro, L. J.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6482910/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6482910</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6482910" 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/10.1056/NEJM198410183111603" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9719382/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9719382</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9719382" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.35.8.690" target="_blank">Full Text</a>]
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Franco, B., Meroni, G., Parenti, G., Levilliers, J., Bernard, L., Gebbia, M., Cox, L., Maroteaux, P., Sheffield, L., Rappold, G. A., Andria, G., Petit, C., Ballabio, A.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7720070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7720070</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7720070" 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/10.1016/0092-8674(95)90367-4" target="_blank">Full Text</a>]
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Green, M. C.
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<strong>Genetic Variants and Strains of the Laboratory Mouse.</strong>
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Stuttgart: Gustav Fischer (pub.) 1981.
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[<a href="https://doi.org/10.1111/j.1399-0004.2004.00364.x" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2722194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2722194</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2722194" 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/BF00284052" target="_blank">Full Text</a>]
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<strong>A prospective study of brachytelephalangic chondrodysplasia punctata: identification of arylsulfatase E mutations, functional analysis of novel missense alleles, and determination of potential phenocopies.</strong>
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[<a href="https://doi.org/10.1038/gim.2013.13" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.32159" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00193206" target="_blank">Full Text</a>]
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<strong>Bare-patches, a new sex-linked gene in the mouse, associated with a high production of XO females. II. Investigation into the nature and mechanism of the XO production.</strong>
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[<a href="https://doi.org/10.1017/s0016672300015056" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1034/j.1399-0004.2001.590209.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(76)80596-3" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9863597/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9863597</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9863597" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.35.12.1004" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.35.8.698" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1937466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1937466</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1937466" 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/BF00201721" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8281147/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8281147</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8281147" 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/BF00289472" target="_blank">Full Text</a>]
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Woods, E., Yates, M., Kanani, F., Balasubramanian, M.
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<strong>Uniparental disomy as a mechanism for X-linked chondrodysplasia punctata.</strong>
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[<a href="https://doi.org/10.1097/MCD.0000000000000419" target="_blank">Full Text</a>]
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Wulfsberg, E. A., Curtis, J., Jayne, C. H.
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<strong>Chondrodysplasia punctata: a boy with X-linked recessive chondrodysplasia punctata due to an inherited X-Y translocation with a current classification of these disorders.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1642270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1642270</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1642270" 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.1320430514" target="_blank">Full Text</a>]
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Sonja A. Rasmussen - updated : 01/19/2023
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Ada Hamosh - updated : 11/13/2013<br>Kelly A. Przylepa - updated : 11/20/2008<br>Victor A. McKusick - updated : 3/31/2005<br>Deborah L. Stone - updated : 7/23/2004<br>Cassandra L. Kniffin - reorganized : 3/28/2003<br>Victor A. McKusick - updated : 7/31/2001<br>Victor A. McKusick - updated : 5/26/1999<br>Michael J. Wright - updated : 2/12/1999<br>Victor A. McKusick - updated : 5/7/1998<br>Victor A. McKusick - updated : 1/8/1998<br>Moyra Smith - updated : 4/29/1996
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Victor A. McKusick : 6/4/1986
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carol : 01/23/2023<br>carol : 01/20/2023<br>carol : 01/19/2023<br>carol : 04/19/2018<br>carol : 07/20/2017<br>carol : 08/22/2014<br>alopez : 11/13/2013<br>mgross : 9/11/2012<br>alopez : 3/10/2011<br>carol : 11/26/2008<br>terry : 11/20/2008<br>carol : 10/31/2008<br>carol : 10/23/2007<br>carol : 11/28/2005<br>wwang : 4/6/2005<br>wwang : 4/6/2005<br>wwang : 3/31/2005<br>terry : 3/31/2005<br>tkritzer : 7/30/2004<br>terry : 7/23/2004<br>terry : 3/18/2004<br>alopez : 5/7/2003<br>carol : 3/28/2003<br>carol : 3/28/2003<br>ckniffin : 3/24/2003<br>ckniffin : 3/24/2003<br>ckniffin : 2/28/2003<br>carol : 9/27/2002<br>cwells : 8/10/2001<br>terry : 7/31/2001<br>alopez : 5/27/1999<br>terry : 5/26/1999<br>carol : 3/29/1999<br>carol : 3/29/1999<br>terry : 3/10/1999<br>mgross : 2/17/1999<br>mgross : 2/16/1999<br>terry : 2/12/1999<br>terry : 6/4/1998<br>alopez : 5/13/1998<br>terry : 5/7/1998<br>mark : 1/13/1998<br>terry : 1/8/1998<br>terry : 6/20/1997<br>carol : 8/22/1996<br>carol : 4/29/1996<br>mark : 1/19/1996<br>mark : 5/17/1995<br>terry : 4/19/1995<br>davew : 6/29/1994<br>warfield : 4/19/1994<br>pfoster : 3/24/1994<br>mimadm : 2/27/1994
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<span class="mim-font">
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<strong>#</strong> 302950
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<h3>
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CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE; CDPX1
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<em>Alternative titles; symbols</em>
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CPXR<br />
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CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC
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<strong>SNOMEDCT:</strong> 778067002;
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<strong>ORPHA:</strong> 79345;
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<strong>DO:</strong> 0060292;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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Xp22.33
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<span class="mim-font">
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Chondrodysplasia punctata, X-linked recessive
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<span class="mim-font">
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302950
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X-linked recessive
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<span class="mim-font">
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3
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ARSL
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300180
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that X-linked recessive chondrodysplasia punctata-1 (CDPX1) is caused by mutation in the ARSE gene (ARSL; 300180) on chromosome Xp22.</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of CDP, see CDPX2 (302960).</p>
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<strong>Clinical Features</strong>
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<p>Sheffield et al. (1976) reported 23 patients who presented in infancy with failure to thrive, apparent mental retardation, and atypical facies. Diagnosis was confirmed by finding punctate calcifications in radiographs of the feet and other sites. Seventeen patients were male, and Sheffield et al. (1976) suggested an X-linked recessive inheritance. Four of their patients showed hypoplasia of the distal phalanges, which was ascribed to Dilantin in 2 cases in which the mothers had a history of use of that drug during gestation. </p><p>Curry (1979) observed a kindred with 2 affected brothers and 1 of their maternal uncles. She suggested that hypoplasia of the distal phalanges is a distinctive feature. One of the brothers was stillborn and showed nasal hypoplasia and distal phalangeal hypoplasia. The uncle required bilateral choanal tubes during the first weeks of life because of severely hypoplastic nose. At birth the skin was bright red with generalized scales which desquamated in large sheets. The skin lesions subsequently had the appearance of ichthyosis. He was retarded (in the educable range) and deaf. In the family of Curry (1979), the presumed carrier females showed no radiologic abnormality, thus suggesting an X-linked recessive form.</p><p>Maroteaux (1989) described 4 cases of chondrodysplasia punctata with hypoplasia of the distal phalanges of the fingers. He designated the disorder brachytelephalangic chondrodysplasia punctata. Growth disturbance was moderate without asymmetry of the limbs, and the facial dysmorphism was similar to that in a condition Maroteaux (1989) referred to as 'Binder's maxillo-facial dysostosis.' Generalized involvement of the vertebral bodies with calcifications was never seen. The cases represented a benign form of chondrodysplasia punctata. The phalangeal anomaly is important to the diagnosis after the second and third years of life, when the epiphyseal stippling is no longer present. Maroteaux (1989) pointed out that the facial features and even the distal phalangeal hypoplasia are similar to those reported by Curry et al. (1984) in cases with a deletion of terminal Xp, and suggested that the affected patients, all males, may have their disorder on the basis of an isolated mutation of the same gene on Xp. </p><p>Petit et al. (1990) described a 4-generation family in which chondrodysplasia punctata was found in a boy and one of his maternal uncles. These 2 patients also had short stature, as did all the female members of the family. Petit et al. (1990) emphasized and illustrated the occurrence of short distal phalanges in this condition, especially in the 25-year-old uncle. </p><p>Elcioglu and Hall (1998) reported 2 sibs with features consistent with a diagnosis of either chondrodysplasia punctata, metacarpal type or chondrodysplasia, brachytelephalangic type, one of whom was stillborn at 36 weeks and one of whom miscarried at 24 weeks, from a mother with systemic lupus erythematosus (SLE; 152700). Austin-Ward et al. (1998) reported a child with chondrodysplasia punctata (118651) and other congenital anomalies resembling those associated with the use of oral anticoagulants, but with no history of exposure, who was born to a mother with systemic lupus erythematosus. Both Elcioglu and Hall (1998) and Austin-Ward et al. (1998), as well as Toriello (1998) in a commentary on these 2 papers, concluded that there was an association between chondrodysplasia punctata and maternal systemic lupus erythematosus. Kozlowski et al. (2004) described 2 brothers with chondrodysplasia punctata, whose mother had longstanding lupus erythematosus and epilepsy, for which she had been treated with chloroquine and other therapeutic agents during both pregnancies. Kozlowski et al. (2004) pointed to 7 previously reported instances of the association between chondrodysplasia punctata and maternal SLE. </p><p>Woods et al. (2022) reported a girl with CDPX1 due to uniparental isodisomy of the X chromosome. Her brother had died at age 1 month from respiratory complications of the disorder. Prenatal ultrasound identified polyhydramnios, a flattened nasal bridge, and the possibility of a cleft palate. She did well at birth, but at 3 days of life, she presented with respiratory distress and feeding difficulty. On physical examination, she had low-set ears, a flattened nasal bridge with crescent-shaped nostrils, and noisy breathing. Chest x-ray showed stippled epiphyses at the humeral heads and ribs. On nasal endoscopy, she had a small cartilaginous anterior nasal cavity. She had mild conductive hearing loss. On neuroimaging, she had good alignment of the C-spine with some ossification, more marked in the upper thoracic spine. At 6 months of age, she had normal tone and was feeding, growing, and developing appropriately. </p>
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<strong>Cytogenetics</strong>
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<p>Curry et al. (1982) concluded that X-linked chondrodysplasia punctata may be determined by a locus at Xp22.32. Two families were studied, each with 2 affected males. Because atypical ichthyosis was a feature, the steroid sulfatase system was investigated. All 4 had greatly elevated cholesterol sulfate; this measure was normal in carrier females. In both of the males studied, cultured fibroblasts showed steroid sulfatase deficiency. High-resolution cytogenetics showed a small deletion at Xp22.32 in all 4 affected males, their carrier mothers, and several potential carrier females. Curry et al. (1984) reported that the steroid sulfatase (STS; 300747), XG (300879), and MIC2X (313470) loci were also deleted. The women carrying the deletion had normal gonadal function and fertility but were shorter of stature than noncarriers in their families (p less than 0.00001). The skin lesions resembled those of X-linked ichthyosis (308100). The deletion in the family reported by Bick et al. (1989) was larger than that described by Curry et al. (1984) and included the Kallmann gene (KAL1; 300836). </p><p>By a study of cases of various deletions of Xp, Ballabio et al. (1989) concluded that CPXR is located just proximal to MIC2 in the most distal portion of Xp, which is pseudoautosomal. Ballabio et al. (1991) described a male infant with short stature, chondrodysplasia punctata, and ichthyosis due to steroid sulfatase deficiency. Deletion of the distal short arm of the X chromosome had been inherited from the mother who had a balanced reciprocal translocation between 9p and Xp. This was evidence of close situation of the STS locus and the CDPX1 locus. </p><p>Wulfsberg et al. (1992) described X-linked recessive chondrodysplasia punctata as part of a contiguous Xp gene deletion syndrome including the CDPX1 gene, a nonspecific X-linked mental retardation gene, the STS gene, and the Kallmann syndrome gene. </p><p>Agematsu et al. (1988) described mother and son who were carrying an extra piece on the short arm of the X chromosome, identified as having derived from the long arm of the Y chromosome by means of in situ hybridization with a Y-chromosome-specific DNA probe. The son had punctate epiphyseal calcifications, mildly short limbs, flattened nasal bridge, and mental retardation. The mother was somewhat short of stature and was said to have mildly short arms but no punctate calcifications. It is difficult to suggest that the mother was affected. During the early weeks of life, the son suffered from severe respiratory distress attributed to the small nasal airway and laryngomalacia with stippling of the laryngeal cartilages. </p><p>Maroteaux (1989) reported that DNA molecular analysis of pseudoautosomal and Xp22.3-specific loci showed an interstitial deletion that cosegregated with the phenotypic abnormalities. The deletion lay at the boundary of the pseudoautosomal region. The fact that the patients had neither ichthyosis nor Kallmann syndrome indicates that these loci are located more proximally. </p><p>Seidel et al. (2001) described an 8-year-old male with mesomelic shortening of forearms and legs, brachytelephalangy, and ichthyotic skin lesions. Chromosomal analysis showed an X;Y translocation involving the short arm of the X chromosome. Fluorescence in situ hybridization and molecular studies localized the breakpoints on Xp22.3 in the immediate vicinity of the KAL gene and demonstrated deletions of steroid sulfatase, arylsulfatase E, and short stature homeobox (SHOX; 312865) genes. It was suspected that the patient was suffering from chondrodysplasia punctata because of a loss of the ARSE gene; however, no stippled epiphyses were seen in the neonatal radiograph. Brachytelephalangy was the only result of ARSE gene deletion in this patient. The patient's mother had dwarfism and showed Madelung deformity of the forearms. She was shown to be a carrier of the same aberrant X chromosome. Her son did not show Madelung deformity, demonstrating that the Leri-Weill syndrome phenotype may be incomplete in children with SHOX gene deletion. </p>
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<span class="mim-font">
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<strong>Mapping</strong>
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<p>Van Maldergem et al. (1991) confirmed the assignment of the CDPX1 gene to Xp22.3 by demonstrating the existence of a reciprocal X-Y translocation involving the region distal to Xp22.3. Weil et al. (1993) studied a 13-year-old male with a 45,X karyotype and many stigmata of Turner syndrome. Y-chromosome material had been transposed to the X chromosome, which was partially deleted. The deletions on the X and Y chromosomes allowed Weil et al. (1993) to map the genes responsible for most features of the Turner syndrome to the segment between DXS432 and Xqter. Since the patient had no clinical or radiographic signs of chondrodysplasia punctata, they concluded from the molecular analysis that this locus can be narrowed to an interval of 1.5 Mb between DXS432 and DXS31. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>Franco et al. (1995) cloned the genomic region within Xp22.3 where the gene related to CDPX is located and isolated 3 adjacent genes showing highly significant homology to the sulfatase gene family: arylsulfatase D (300002), arylsulfatase E (ARSE), and arylsulfatase F (300003). Point mutations in ARSE were identified in 5 patients with CDPX (300180.0001-300180.0005). Expression of the gene in COS cells resulted in a heat-labile arylsulfatase activity that is inhibited by warfarin. Franco et al. (1995) demonstrated a deficiency of a heat-labile arylsulfatase activity in patients with deletions spanning the CDPX region. Thus, Franco et al. (1995) determined that CDPX is caused by an inherited deficiency of a novel sulfatase. It is likely that warfarin embryopathy involves drug-induced inhibition of the same enzyme. ARSD lies telomeric to ARSE and both are transcribed toward the telomere. The authors noted that ancient duplications may be responsible for the contiguous location of genes of closely similar sequence and structure. Franco et al. (1995) granted the possibility that mutations in the ARSD or ARSF genes may also cause CDPX. Another member of the arylsulfatase family, ARSC, also known as steroid sulfatase, is deficient in X-linked ichthyosis. ARSA (607574) is deficient in metachromatic leukodystrophy (250100); ARSB (611542) is deficient in mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome; 253200). </p><p>Sheffield et al. (1998) reported mutation analysis on 16 males and 2 females with what they classified as the symmetric type of chondrodysplasia punctata, including individuals from 3 multigeneration families. Mutations in ARSE were found in 3 males. No mutations were detected in the ARSD gene. Family studies showed segregation of the mutations with phenotype, establishing X-linked inheritance in the families. Asymptomatic females and males were found in these studies. Sheffield et al. (1998) concluded that clinical presentation varied not only between unrelated affected males but also between affected males within the same family, and that the clinical diagnosis of chondrodysplasia punctata in adults can be difficult. Sheffield et al. (1998) also discussed the nosology of the chondrodysplasia punctata group. </p><p>In 16 male patients with CDPX1, Brunetti-Pierri et al. (2003) performed direct sequencing of the ARSE gene and identified mutations in 12 of them (see 300180.0007-300180.0008). Clinical variability was observed among the patients, including severe presentation with early lethality in one, and unusual features such as cataracts, sensorineural deafness, and respiratory distress. </p><p>Nino et al. (2008) evaluated the ARSE gene in 11 patients with a suspected clinical diagnosis of CDPX1 based on the diagnostic criteria of male sex, nasomaxillary hypoplasia, brachytelephalangy, and radiologic evidence of chondrodysplasia punctata. Mutations were identified in 7. Three of the remaining 4 individuals had underlying maternal conditions, including maternal pancreatitis and autoimmune disease involving several organs, that further expand the phenocopy group. Nino et al. (2008) compared the clinical features of 31 patients with documented ARSE deficiency and 27 patients with presumed phenocopies of CDPX1. Distinguishing features included the increased occurrence of maternal complications, preterm delivery, and infant demise in the phenocopy group. </p><p>Matos-Miranda et al. (2013) reported the results of a Collaboration Education and Test Translation (CETT) program for CDPX1 from 2008 to 2010. Of 29 male probands identified, 17 had ARSE mutations (58%) including 10 novel missense alleles and 1 single-codon deletion. All mutant alleles had negligible ARSE activity, and there were no obvious genotype-phenotype correlations. Maternal etiologies were not reported in most patients. </p><p>In a girl with CDPX1, Woods et al. (2022) identified homozygosity for a deletion-insertion mutation (c.1227_1228delinsAT, NM_000047.2) in the ARSL gene, resulting in a ser41-to-cys (S41C) substitution. Her mother was heterozygous for the variant. A single-nucleotide polymorphism array suggested segmental uniparental disomy, due to either a postzygotic mechanism due to crossover between X-chromatids, or more likely, a trisomic rescue with loss of the paternal X after a maternal meiosis I error, with later crossover. The phenotype in this patient was milder than that seen in her affected brother; the authors hypothesized that this was due to residual activity of the mutated protein and the ARSE gene escaping X inactivation. </p>
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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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Green (1981); Norwood et al. (1985); Phillips et al. (1973); Phillips
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and Kaufman (1974); Wettke-Schafer and Kantner (1983)
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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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<p />
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<p class="mim-text-font">
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Agematsu, K., Koike, K., Morosawa, H., Nakahori, Y., Nakagome, Y., Akabane, T.
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<strong>Chondrodysplasia punctata with X;Y translocation.</strong>
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Hum. Genet. 80: 105-107, 1988.
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[PubMed: 3417299]
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[Full Text: https://doi.org/10.1007/BF00451470]
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Austin-Ward, E., Castillo, S., Cuchacovich, M., Espinoza, A., Cofre-Beca, J., Gonzalez, S, Solivelles, X., Bloomfield, J.
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<strong>Neonatal lupus syndrome: a case with chondrodysplasia punctata and other unusual manifestations.</strong>
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J. Med. Genet. 35: 695-697, 1998.
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[PubMed: 9719383]
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[Full Text: https://doi.org/10.1136/jmg.35.8.695]
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NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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Copyright<sup>®</sup> 1966-2025 Johns Hopkins University.
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Thank you in advance for your generous support, <br />
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