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Entry
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- #274000 - THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR
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- OMIM
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<p>
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<span class="h4">#274000</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/274000"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://decipher.sanger.ac.uk/syndrome/64" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=595&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/NBK23758/" 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/6998" 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/thrombocytopenia-absent-radius-syndrome" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=274000[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=3320" 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/0c608b2d-2e4b-440c-9dda-536ac33d1ddc/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:14699" 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/274000" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA001001/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://wormbase.org/resources/disease/DOID:14699" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</div>
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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> 85589009<br />
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<strong>ICD10CM:</strong> Q87.2<br />
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<strong>ORPHA:</strong> 3320<br />
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<strong>DO:</strong> 14699<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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274000
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
|
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<span class="mim-font">
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THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR
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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">
|
|
TAR SYNDROME<br />
|
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CHROMOSOME 1q21.1 DELETION SYNDROME, 200-KB
|
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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>
|
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Phenotype <br /> mapping key
|
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</th>
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<th>
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Gene/Locus
|
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</th>
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<th>
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Gene/Locus <br /> MIM number
|
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</th>
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</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/1/1025?start=-3&limit=10&highlight=1025">
|
|
1q21.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Thrombocytopenia-absent radius syndrome
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/274000"> 274000 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
RBM8A
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605313"> 605313 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/274000" 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/274000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/274000" 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">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</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">
|
|
|
|
- Brachycephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13649004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13649004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221356&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221356</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000248" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000248</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000248" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000248</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9ccc4d161e106e4d5543286323f007ce" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Brachycephaly-Large-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9ccc4d161e106e4d5543286323f007ce" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Micrognathia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32958008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32958008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.04</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025990&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025990</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Micrognathia-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Strabismus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22066006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22066006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038379</a>, <a href="https://bioportal.bioontology.org/search?q=C2020541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2020541</a>, <a href="https://bioportal.bioontology.org/search?q=C1423541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1423541</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span><br /> -
|
|
Ptosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11934000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11934000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29696001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29696001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.409" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.409</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/374.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.3</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/374.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005745&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005745</a>, <a href="https://bioportal.bioontology.org/search?q=C0033377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033377</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Ptosis-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nose </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Small, upturned nose <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855766&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855766</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Tetralogy of Fallot <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86299006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86299006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/745.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0039685&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039685</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001636" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001636</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001636" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001636</a>]</span><br /> -
|
|
Atrial septal defect <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253366007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253366007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405752007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405752007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70142008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70142008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018817</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001631" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001631</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001631" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001631</a>]</span><br /> -
|
|
Ventricular septal defects <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30288003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30288003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253549006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253549006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/768552007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">768552007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/745.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018818&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018818</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001629</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001629</a>]</span><br /> -
|
|
Coarctation of the aorta <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7305005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7305005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q25.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q25.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/747.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">747.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/747.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">747.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003492&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003492</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001680" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001680</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001680" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001680</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> CHEST </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Ribs Sternum Clavicles & Scapulae </em>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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|
|
- Lateral clavicular hook <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848839&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848839</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> ABDOMEN </strong>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<em> Pancreas </em>
|
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</span>
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</div>
|
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<div style="margin-left: 2em;">
|
|
<span class="mim-font">
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|
- Pancreatic cysts <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/31258000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">31258000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K86.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K86.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0030283&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030283</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001737" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001737</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001737" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001737</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Meckel diverticulum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/127962001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">127962001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37373007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37373007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q43.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q43.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/751.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">751.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025037&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025037</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002245" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002245</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002245" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002245</a>]</span><br />
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</span>
|
|
</div>
|
|
</div>
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</div>
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|
|
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</div>
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|
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|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
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|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Axial malrotation of the kidney <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4025300&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4025300</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004717" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004717</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004717" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004717</a>]</span><br /> -
|
|
Horseshoe kidney <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/41729002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">41729002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221353&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221353</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000085" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000085</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000085" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000085</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
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|
|
|
|
|
</div>
|
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|
|
</div>
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|
|
|
|
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|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Spina bifida <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/67531005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">67531005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q05.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q05.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q05" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q05</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/741.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">741.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/741.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">741.90</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/741" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">741</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158534</a>, <a href="https://bioportal.bioontology.org/search?q=C0080178&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0080178</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002414" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002414</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002414" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002414</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Pelvis </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hip dislocation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/157265008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">157265008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/S73.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">S73.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/835" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">835</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019554&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019554</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002827" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002827</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002827" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002827</a>]</span><br /> -
|
|
Coxa valga <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33754009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33754009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16979000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16979000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299236004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299236004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q65.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q65.81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.61</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/736.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.31</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158480&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158480</a>, <a href="https://bioportal.bioontology.org/search?q=C0152430&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152430</a>, <a href="https://bioportal.bioontology.org/search?q=C0239137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239137</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002673" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002673</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002673" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002673</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
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|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Bilateral absence of radius <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848840&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848840</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004977" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004977</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004977" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004977</a>]</span><br /> -
|
|
Hypoplasia or unilateral/bilateral absence of ulna <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865571&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865571</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006495" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006495</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006495" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006495</a>]</span><br /> -
|
|
Abnormal humerus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848842&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848842</a>]</span><br /> -
|
|
Knee subluxation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263058005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263058005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0434792&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0434792</a>]</span><br /> -
|
|
Dislocation of patella <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263029007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263029007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1135812&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1135812</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002999" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002999</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002999" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002999</a>]</span><br /> -
|
|
Femoral torsion <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/718345008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">718345008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848843&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848843</a>]</span><br /> -
|
|
Tibial torsion <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249785006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249785006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426900&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426900</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100694" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100694</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100694" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100694</a>]</span><br /> -
|
|
Absence of fibula <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/275347009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">275347009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0555245&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0555245</a>]</span><br />
|
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|
|
</span>
|
|
</div>
|
|
</div>
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<div>
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|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Thumbs always present <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848844&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848844</a>]</span><br /> -
|
|
Carpal bone hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863749&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863749</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001498" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001498</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001498" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001498</a>]</span><br /> -
|
|
Carpal bone fusion <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/92843003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">92843003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836193&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836193</a>, <a href="https://bioportal.bioontology.org/search?q=C0431863&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0431863</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005048" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005048</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0009702" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009702</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009702" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009702</a>]</span><br /> -
|
|
Hypoplastic phalanges <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0877165&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0877165</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009803" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009803</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009803" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009803</a>]</span><br />
|
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|
|
</span>
|
|
</div>
|
|
</div>
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|
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</div>
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|
</div>
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Forehead nevus flammeus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848850&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848850</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007413" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007413</a>]</span><br /> -
|
|
Dysseborrheic dermatitis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806554&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806554</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001051" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001051</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001051" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001051</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Arm/shoulder muscle hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806553&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806553</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Intracranial bleed <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1386000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1386000</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/432.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">432.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151699&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151699</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002170" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002170</a>]</span><br /> -
|
|
Delayed myelination <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/135810007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">135810007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1277241&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1277241</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012448" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012448</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012448" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012448</a>]</span><br /> -
|
|
Hypoplasia of cerebellum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16026008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16026008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266470&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266470</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001321" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001321</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001321" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001321</a>]</span><br /> -
|
|
Cavum septum pellucidum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74968005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74968005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0228158&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0228158</a>, <a href="https://bioportal.bioontology.org/search?q=C1840380&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840380</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002389" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002389</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002389" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002389</a>]</span><br /> -
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|
Absence of the corpus callosum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/5102002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">5102002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q04.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q04.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0175754&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0175754</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001274" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001274</a>]</span><br /> -
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Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
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Delayed motor development (secondary to skeletal abnormalities) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848836&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848836</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span><br /> -
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Mental retardation (secondary to intracranial bleed) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848837&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848837</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br />
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</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> HEMATOLOGY </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Thrombocytopenia (onset birth-neonate, may be precipitated by cow's milk allergy) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2678309&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2678309</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/415116008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">415116008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302215000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302215000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D69.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D69.6</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/287.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">287.5</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001873" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001873</a>]</span><br /> -
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Absent or hypoplastic megakaryocytes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2678310&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2678310</a>]</span><br /> -
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'Leukemoid' granulocytosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848848&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848848</a>]</span><br /> -
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Eosinophilia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/386789004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">386789004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D72.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D72.10</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/D72.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D72.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/288.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">288.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0014457&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014457</a>, <a href="https://bioportal.bioontology.org/search?q=C2240374&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2240374</a>, <a href="https://bioportal.bioontology.org/search?q=C1306759&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1306759</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001880" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001880</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001880" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001880</a>]</span><br /> -
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Anemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271737000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271737000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D64.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D64.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/285.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">285.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002871&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002871</a>, <a href="https://bioportal.bioontology.org/search?q=C1000483&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1000483</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001903</a>]</span><br /> -
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Hypercellular bone marrow <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1334068&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1334068</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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<strong> IMMUNOLOGY </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Hypogammaglobulinemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/119250001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">119250001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/D80.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">D80.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/279.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">279.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0086438&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086438</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004313" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004313</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004313" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004313</a>]</span><br /> -
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Cow's milk allergy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/782555009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">782555009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266815&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266815</a>, <a href="https://bioportal.bioontology.org/search?q=C4758639&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4758639</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100327" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100327</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Approximately 40% of patients die within newborn period<br /> -
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Severity of hematologic disorder decreases with advancing age<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the RNA-binding motif protein 8A gene (RBM8A, <a href="/entry/605313#0001">605313.0001</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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<br />
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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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<p>A number sign (#) is used with this entry because most cases of thrombocytopenia-absent radius syndrome (TAR) are caused by compound heterozygosity for a rare null mutation involving the RBM8A gene (<a href="/entry/605313">605313</a>) on chromosome 1q21 on 1 allele (200-kb deletion involving at least 10 genes, frameshift, or premature termination), and 1 of 2 low-frequency noncoding single-nucleotide polymorphisms (SNPs) in RBM8A on the other.</p>
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<br />
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Description</strong>
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<p>The thrombocytopenia-absent radius syndrome (TAR) is characterized by reduction in the number of platelets and absence of the radius; preservation of the thumb distinguishes TAR from other syndromes that combine blood abnormalities with absence of the radius, such as Fanconi anemia (see <a href="/entry/227650">227650</a>). Individuals with TAR have low numbers of megakaryocytes, platelet precursor cells that reside in bone marrow, and frequently present with bleeding episodes in the first year of life that diminish in frequency and severity with age. The severity of skeletal anomalies varies from absence of radii to virtual absence of upper limbs, with or without lower limb defects such as malformations of the hip and knee (summary by <a href="#2" class="mim-tip-reference" title="Albers, C. A., Paul, D. S., Schulze, H., Freson, K., Stephens, J. C., Smethurst, P. A., Jolley, J. D., Cvejic, A., Kostadima, M., Bertone, P., Breuning, M. H., Debili, N., and 19 others. <strong>Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.</strong> Nature Genet. 44: 435-439, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366785</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22366785[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366785">Albers et al., 2012</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22366785" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
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<a id="clinicalFeatures" class="mim-anchor"></a>
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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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</h4>
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<span class="mim-text-font">
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<p><a href="#28" class="mim-tip-reference" title="Shaw, S., Oliver, R. A. M. <strong>Congenital hypoplastic thrombocytopenia with skeletal deformities in siblings.</strong> Blood 14: 374-377, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13638337/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13638337</a>]" pmid="13638337">Shaw and Oliver (1959)</a> described sibs with absent radii and thrombocytopenia. They suggested that this disorder is distinct from Fanconi pancytopenic syndrome (<a href="/entry/227650">227650</a>) because there was no hypoplasia of the erythron and the blood disorder was evident in the first few months of life. The rare condition had been reported in sibs by <a href="#13" class="mim-tip-reference" title="Gross, H., Groh, C., Weippl, G. <strong>Kongenitale hypoplastische Thrombopenie mit Radius-Aplasie, ein Syndrom multipler Abartungen.</strong> Neue Oest. Z. Kinderheilk. 1: 574 only, 1956.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13418935/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13418935</a>]" pmid="13418935">Gross et al. (1956)</a>. In other reported cases congenital heart disease and renal malformations were found. Thrombocytopenia usually gives rise to symptoms early in life but is transient. Thus, the process is a more benign one than is Fanconi panmyelopathy, in which leukemia is a further complication. Other differences from Fanconi disease include the absence of particular change in the thumb, of pigmentary abnormalities, and of chromosomal breaks. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13638337+13418935" 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 family studied at the Johns Hopkins Hospital, <a href="#14" class="mim-tip-reference" title="Hall, J. G., Levin, J., Kuhn, J. P., Ottenheimer, E. J., Van Berkum, K. A. P., McKusick, V. A. <strong>Thrombocytopenia with absent radius (TAR).</strong> Medicine 48: 411-439, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4951233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4951233</a>] [<a href="https://doi.org/10.1097/00005792-196948060-00001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4951233">Hall et al. (1969)</a>, who gave the name and acronym to this syndrome, described 4 affected sisters. One with tetralogy of Fallot had died. The oldest was alive at age 27 and had 2 normal children. The occurrence of hypoplastic radius and hypoplastic thrombocytopenia with trisomy 18 (<a href="#24" class="mim-tip-reference" title="Rabinowitz, J. G., Moseley, J. E., Mitty, H. A., Hirschhorn, K. <strong>Trisomy 18, esophageal atresia, anomalies of the radius, and congenital hypoplastic thrombocytopenia.</strong> Radiology 89: 488-491, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6039929/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6039929</a>] [<a href="https://doi.org/10.1148/89.3.488" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6039929">Rabinowitz et al., 1967</a>) is of interest although a relationship to the mendelizing syndrome is doubtful. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6039929+4951233" 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>Cow's milk intolerance is said to occur frequently in the TAR syndrome (<a href="#36" class="mim-tip-reference" title="Whitfield, M. F., Barr, D. G. D. <strong>Cow's milk allergy in the syndrome of thrombocytopenia with absent radius.</strong> Arch. Dis. Child. 51: 337-343, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/947152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">947152</a>] [<a href="https://doi.org/10.1136/adc.51.5.337" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="947152">Whitfield and Barr, 1976</a>). <a href="#33" class="mim-tip-reference" title="Van Allen, M. I., Hoyme, H. E., Jones, K. L. <strong>Vascular pathogenesis of limb defects: I. Radial artery anatomy in radial aplasia. (Abstract)</strong> Clin. Res. 30: 135A only, 1982."None>Van Allen et al. (1982)</a> showed that the radial artery is present (but with an abnormal course) in the TAR syndrome, suggesting that the radial aplasia is primary; in other forms of radial aplasia, abnormality of the blood supply appeared to be primary. <a href="#3" class="mim-tip-reference" title="Anyane-Yeboa, K., Jaramillo, S., Nagel, C., Grebin, B. <strong>Tetraphocomelia in the syndrome of thrombocytopenia with absent radii (TAR syndrome).</strong> Am. J. Med. Genet. 20: 571-576, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3993682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3993682</a>] [<a href="https://doi.org/10.1002/ajmg.1320200402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3993682">Anyane-Yeboa et al. (1985)</a> described an infant with the most severe expression in the limbs, tetraphocomelia, simulating thalidomide embryopathy. <a href="#23" class="mim-tip-reference" title="Pfeiffer, R. A., Haneke, C. <strong>The phocomelia-thrombocytopenia syndrome: a follow-up report.</strong> Humangenetik 26: 157-158, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1112606/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1112606</a>] [<a href="https://doi.org/10.1007/BF00278446" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1112606">Pfeiffer and Haneke (1975)</a> reported a similar case. The occurrence of cleft lip and palate in association with skeletal changes such as absent radius suggests Roberts syndrome (<a href="/entry/268300">268300</a>) or SC phocomelia (<a href="/entry/268300">268300</a>) rather than TAR syndrome. Clefting must be rare in TAR syndrome. Abnormalities in the legs are frequent (<a href="#25" class="mim-tip-reference" title="Ray, R., Zorn, E., Kelly, T., Hall, J. G., Sommer, A. <strong>Lower limb anomalies in the thrombocytopenia absent-radius (TAR) syndrome.</strong> Am. J. Med. Genet. 7: 523-528, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7211961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7211961</a>] [<a href="https://doi.org/10.1002/ajmg.1320070413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7211961">Ray et al., 1980</a>; <a href="#27" class="mim-tip-reference" title="Schoenecker, P. L., Cohn, A. K., Sedgwick, W. G., Manske, P. R., Salafsky, I., Millar, E. A. <strong>Dysplasia of the knee associated with the syndrome of thrombocytopenia and absent radius.</strong> J. Bone Joint Surg. Am. 66: 421-427, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6699059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6699059</a>]" pmid="6699059">Schoenecker et al., 1984</a>) and may be severe (e.g., <a href="#3" class="mim-tip-reference" title="Anyane-Yeboa, K., Jaramillo, S., Nagel, C., Grebin, B. <strong>Tetraphocomelia in the syndrome of thrombocytopenia with absent radii (TAR syndrome).</strong> Am. J. Med. Genet. 20: 571-576, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3993682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3993682</a>] [<a href="https://doi.org/10.1002/ajmg.1320200402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3993682">Anyane-Yeboa et al., 1985</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1112606+3993682+947152+7211961+6699059" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Feingold, M., Bartoshesky, L., Geis, N. <strong>TAR syndrome: dorsal pedal edema and excessive perspiration. (Letter)</strong> Am. J. Dis. Child. 134: 895-896, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7416121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7416121</a>]" pmid="7416121">Feingold et al. (1980)</a> pointed out the occurrence of nonpitting dorsal pedal edema in the newborn period and excessive perspiration. The patient reported by <a href="#34" class="mim-tip-reference" title="van Haeringen, A., Veenstra, F., Maaswinkel-Mooij, P. D., van de Kamp, J. J. P. <strong>Intermittent thrombocytopenia and absent radii: report of a patient with additional unusual manifestations.</strong> Am. J. Med. Genet. 34: 202-206, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2816998/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2816998</a>] [<a href="https://doi.org/10.1002/ajmg.1320340214" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2816998">van Haeringen et al. (1989)</a> showed, in addition to absent radii and intermittent thrombocytopenia, cleft of the soft palate, subcricoid stenosis, duodenal atresia, and sensitivity to x-rays. In addition to reviewing the manifestations of this syndrome, <a href="#15" class="mim-tip-reference" title="Hall, J. G. <strong>Thrombocytopenia and absent radius (TAR) syndrome.</strong> J. Med. Genet. 24: 79-83, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3560171/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3560171</a>] [<a href="https://doi.org/10.1136/jmg.24.2.79" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3560171">Hall (1987)</a> announced the organization of a parent support group called TARSA (Thrombocytopenia Absent Radius Syndrome Association). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7416121+3560171+2816998" 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="Homans, A. C., Cohen, J. L., Mazur, E. M. <strong>Defective megakaryocytopoiesis in the syndrome of thrombocytopenia with absent radii.</strong> Brit. J. Haemat. 70: 205-210, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3191031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3191031</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1988.tb02465.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3191031">Homans et al. (1988)</a> found that megakaryocyte colony growth in vitro was virtually absent in optimally stimulated cultures of a patient's bone marrow progenitors, whereas erythroid and myeloid colony growth was preserved. Staining of the patient's bone marrow smears with antiserum against platelet membrane glycoproteins detected no immature, small megakaryocyte precursors. A high level of megakaryocyte colony stimulating activity, comparable to the levels present in sera from adults with aplastic anemia, was detected in the serum from the TAR infant. The elevated serum activity decreased by 6 months of age at which time partial platelet recovery had occurred. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3191031" 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="#5" class="mim-tip-reference" title="Ashinoff, R., Geronemus, R. G. <strong>Thrombocytopenia--absent radii syndrome and lack of response to the pulsed dye laser. (Letter)</strong> Arch. Derm. 126: 1520-1521, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2241212/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2241212</a>]" pmid="2241212">Ashinoff and Geronemus (1990)</a> described a patient with the TAR syndrome and a very large port-wine stain involving the right half of the face, scalp, neck, and chest. Flashlamp-pumped pulsed dye laser (PDL) was considered the treatment of choice for port-wine stains. However, they observed no beneficial effect after 3 treatments and postulated that severe thrombocytopenia prevented the formation of platelet thrombi, thus inhibiting the action of the PDL. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2241212" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Among the children of second cousins of Mayan ancestry, <a href="#6" class="mim-tip-reference" title="Ceballos-Quintal, J. M., Pinto-Escalante, D., Gongora-Biachi, R. A. <strong>TAR-like syndrome in a consanguineous Mayan girl.</strong> Am. J. Med. Genet. 43: 805-807, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1642266/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1642266</a>] [<a href="https://doi.org/10.1002/ajmg.1320430510" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1642266">Ceballos-Quintal et al. (1992)</a> described a TAR-like syndrome. The sib described in detail had, in addition to the usual abnormalities of TAR syndrome, depressed nasal bridge, cataracts, glaucoma, megalocornea, and blue sclerae. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1642266" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Greenhalgh, K. L., Howell, R. T., Bottani, A., Ancliff, P. J., Brunner, H. G., Verschuuren-Bemelmans, C. C., Vernon, E., Brown, K. W., Newbury-Ecob, R. A. <strong>Thrombocytopenia-absent radius syndrome: a clinical genetic study.</strong> J. Med. Genet. 39: 876-881, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12471199/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12471199</a>] [<a href="https://doi.org/10.1136/jmg.39.12.876" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12471199">Greenhalgh et al. (2002)</a> reported the results of a clinical study of 34 patients with TAR syndrome. All patients had documented thrombocytopenia and bilateral radial aplasia, 47% had lower limb anomalies, 47% intolerance to cow's milk, 23% renal anomalies, and 15% cardiac anomalies. Congenital anomalies also included facial capillary hemangiomata, intracranial vascular malformation, sensorineural hearing loss, and scoliosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12471199" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#22" class="mim-tip-reference" title="Menghsol, S. C., Harris, R. D., Ornvold, K. <strong>Thrombocytopenia and absent radii, TAR syndrome: report of cerebellar dysgenesis and newly identified cardiac and renal anomalies. (Letter)</strong> Am. J. Med. Genet. 123A: 193-196, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14598347/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14598347</a>] [<a href="https://doi.org/10.1002/ajmg.a.20251" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14598347">Menghsol et al. (2003)</a> reported a patient with TAR syndrome who also had coarctation of the aorta and axial rotation of the kidney. He died at approximately 3 weeks of age from cardiorespiratory arrest due to pneumonia and sepsis. Postmortem examination showed left ventricular hypertrophy and subendocardial fibrosis in addition to coarctation of the aorta. Other findings included adducted thumbs, radial aplasia, hypoplasia of the cerebellar vermis, and axial malrotation of the kidney, which is thought to result from abnormal migration during fetal development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14598347" 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="#30" class="mim-tip-reference" title="Skorka, A., Bielicka-Cymermann, J., Gieruszczak-Bialek, D., Korniszewski, L. <strong>Thrombocytopenia-absent radius (TAR) syndrome: a case with agenesis of corpus callosum, hypoplasia of cerebellar vermis, and horseshoe kidney.</strong> Genet. Counsel. 16: 377-382, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16440880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16440880</a>]" pmid="16440880">Skorka et al. (2005)</a> reported a female infant with TAR syndrome and complete agenesis of the corpus callosum, hypoplasia of the cerebellum, and horseshoe kidney. She had cow's milk allergy, complex partial seizures with secondary generalization, and severe psychomotor retardation. She died at age 5 years of multiorgan failure following prolonged seizures. <a href="#30" class="mim-tip-reference" title="Skorka, A., Bielicka-Cymermann, J., Gieruszczak-Bialek, D., Korniszewski, L. <strong>Thrombocytopenia-absent radius (TAR) syndrome: a case with agenesis of corpus callosum, hypoplasia of cerebellar vermis, and horseshoe kidney.</strong> Genet. Counsel. 16: 377-382, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16440880/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16440880</a>]" pmid="16440880">Skorka et al. (2005)</a> concluded that cerebral dysgenesis is part of the TAR phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16440880" 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>Parental consanguinity seems to be rarer than one might expect, and on segregation analysis based on the recessive hypothesis, <a href="#14" class="mim-tip-reference" title="Hall, J. G., Levin, J., Kuhn, J. P., Ottenheimer, E. J., Van Berkum, K. A. P., McKusick, V. A. <strong>Thrombocytopenia with absent radius (TAR).</strong> Medicine 48: 411-439, 1969.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4951233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4951233</a>] [<a href="https://doi.org/10.1097/00005792-196948060-00001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4951233">Hall et al. (1969)</a> found an excess of unaffected sibs. The possibility of multiple allelism was raised. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4951233" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#32" class="mim-tip-reference" title="Teufel, M., Enders, H., Dopfer, R. <strong>Consanguinity in a Turkish family with thrombocytopenia with absent radii (TAR) syndrome.</strong> Hum. Genet. 64: 94-96, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6873943/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6873943</a>] [<a href="https://doi.org/10.1007/BF00289487" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6873943">Teufel et al. (1983)</a> gave what they claimed to be the first report of parental consanguinity. <a href="#5" class="mim-tip-reference" title="Ashinoff, R., Geronemus, R. G. <strong>Thrombocytopenia--absent radii syndrome and lack of response to the pulsed dye laser. (Letter)</strong> Arch. Derm. 126: 1520-1521, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2241212/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2241212</a>]" pmid="2241212">Ashinoff and Geronemus (1990)</a> commented on the rarity of reported consanguinity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2241212+6873943" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#35" class="mim-tip-reference" title="Ward, R. E., Bixler, D., Provisor, A. J., Bader, P. <strong>Parent to child transmission of the thrombocytopenia absent radius (TAR) syndrome.</strong> Am. J. Med. Genet. Suppl. 2: 207-214, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3146292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3146292</a>] [<a href="https://doi.org/10.1002/ajmg.1320250625" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3146292">Ward et al. (1986)</a> reported the TAR syndrome in 2 sisters and in the daughter of one of them. The father of the affected child was said to be unrelated to the mother. <a href="#35" class="mim-tip-reference" title="Ward, R. E., Bixler, D., Provisor, A. J., Bader, P. <strong>Parent to child transmission of the thrombocytopenia absent radius (TAR) syndrome.</strong> Am. J. Med. Genet. Suppl. 2: 207-214, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3146292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3146292</a>] [<a href="https://doi.org/10.1002/ajmg.1320250625" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3146292">Ward et al. (1986)</a> pointed out other irregularities in the inheritance of this disorder. They suggested that 'counseling should include the possibility of recurrence risks as high as 50%.' This seems a frightening piece of information which is not justified on the basis of this single instance of parent-to-child transmission. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3146292" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#26" class="mim-tip-reference" title="Schnur, R. E., Eunpu, D. L., Zackai, E. H. <strong>Thrombocytopenia with absent radius in a boy and his uncle.</strong> Am. J. Med. Genet. 28: 117-123, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3314504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3314504</a>] [<a href="https://doi.org/10.1002/ajmg.1320280117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3314504">Schnur et al. (1987)</a> described the TAR syndrome in a black male infant and his maternal uncle. The mother of the propositus was normal; a maternal aunt had mild radial hypoplasia, possibly representing partial expression of the syndrome. <a href="#26" class="mim-tip-reference" title="Schnur, R. E., Eunpu, D. L., Zackai, E. H. <strong>Thrombocytopenia with absent radius in a boy and his uncle.</strong> Am. J. Med. Genet. 28: 117-123, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3314504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3314504</a>] [<a href="https://doi.org/10.1002/ajmg.1320280117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3314504">Schnur et al. (1987)</a> found in the literature 2 other instances of aunt/nephew or uncle/niece affection. These findings, together with that of <a href="#35" class="mim-tip-reference" title="Ward, R. E., Bixler, D., Provisor, A. J., Bader, P. <strong>Parent to child transmission of the thrombocytopenia absent radius (TAR) syndrome.</strong> Am. J. Med. Genet. Suppl. 2: 207-214, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3146292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3146292</a>] [<a href="https://doi.org/10.1002/ajmg.1320250625" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3146292">Ward et al. (1986)</a> of parent-to-child transmission, may require an explanation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3314504+3146292" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The finding of <a href="#19" class="mim-tip-reference" title="Klopocki, E., Schulze, H., Strauss, G., Ott, C.-E., Hall, J., Trotier, F., Fleischhauer, S., Greenhalgh, L., Newbury-Ecob, R. A., Neumann, L. M., Habenicht, R., Konig, R., Seemanova, E., Megarbane, A., Ropers, H.-H., Ullmann, R., Horn, D., Mundlos, S. <strong>Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.</strong> Am. J. Hum. Genet. 80: 232-240, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17236129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17236129</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17236129[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/510919" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17236129">Klopocki et al. (2007)</a> (see CYTOGENETICS) that carriers of a 200-kb microdeletion (i.e., clinically inconspicuous parents and grandparents) are not affected implied that haploinsufficiency of the deleted region is not sufficient to cause TAR syndrome. They remarked that TAR syndrome does not appear to follow a standard autosomal dominant or complex pattern of inheritance. The possibility of genomic imprinting was excluded by the detection of maternal as well as paternal transmission of the deletion among the unaffected carrier parents. <a href="#19" class="mim-tip-reference" title="Klopocki, E., Schulze, H., Strauss, G., Ott, C.-E., Hall, J., Trotier, F., Fleischhauer, S., Greenhalgh, L., Newbury-Ecob, R. A., Neumann, L. M., Habenicht, R., Konig, R., Seemanova, E., Megarbane, A., Ropers, H.-H., Ullmann, R., Horn, D., Mundlos, S. <strong>Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.</strong> Am. J. Hum. Genet. 80: 232-240, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17236129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17236129</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17236129[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/510919" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17236129">Klopocki et al. (2007)</a> concluded that a model with one or more recessively acting modifiers, referred to as mTAR, appears likely, and proposed that TAR syndrome must be considered not a single-gene disease but a complex trait requiring at least 2 unlinked alleles--one rare, the other frequent--to manifest the phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17236129" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Klopocki, E., Schulze, H., Strauss, G., Ott, C.-E., Hall, J., Trotier, F., Fleischhauer, S., Greenhalgh, L., Newbury-Ecob, R. A., Neumann, L. M., Habenicht, R., Konig, R., Seemanova, E., Megarbane, A., Ropers, H.-H., Ullmann, R., Horn, D., Mundlos, S. <strong>Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.</strong> Am. J. Hum. Genet. 80: 232-240, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17236129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17236129</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17236129[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/510919" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17236129">Klopocki et al. (2007)</a> found that the TAR microdeletion was inherited from 1 of the unaffected parents in most patients: from the mother in 12 and from the father in 5. In 1 family the deletion was demonstrated in both the affected mother and the affected fetus. The microdeletion arose de novo in 5. In the remaining patients the pattern of inheritance could not be investigated. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17236129" 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>Many skeletal dysplasias have been diagnosed prenatally after the birth of an affected sib. On the other hand, <a href="#9" class="mim-tip-reference" title="Donnenfeld, A. E., Wiseman, B., Lavi, E., Weiner, S. <strong>Prenatal diagnosis of thrombocytopenia absent radius syndrome by ultrasound and cordocentesis.</strong> Prenatal Diag. 10: 29-35, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2179938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2179938</a>] [<a href="https://doi.org/10.1002/pd.1970100106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2179938">Donnenfeld et al. (1990)</a> performed prenatal diagnosis in a primary (index) case of TAR syndrome. Ultrasound showed bilateral upper limb phocomelia and asymmetric lower limb reduction deficiencies, and cordocentesis showed thrombocytopenia and anemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2179938" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Luthy, D. A., Hall, J. G., Graham, C. B. <strong>Prenatal diagnosis of thrombocytopenia with absent radii.</strong> Clin. Genet. 15: 495-499, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/466849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">466849</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1979.tb00831.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="466849">Luthy et al. (1979)</a> and <a href="#21" class="mim-tip-reference" title="Luthy, D. A., Mack, L., Hirsch, J., Cheng, E. <strong>Prenatal ultrasound diagnosis of thrombocytopenia with absent radii.</strong> Am. J. Obstet. Gynec. 141: 350-351, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7282816/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7282816</a>] [<a href="https://doi.org/10.1016/s0002-9378(16)32646-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7282816">Luthy et al. (1981)</a> reported prenatal diagnosis of TAR by fetal radiography and ultrasound, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=466849+7282816" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#19" class="mim-tip-reference" title="Klopocki, E., Schulze, H., Strauss, G., Ott, C.-E., Hall, J., Trotier, F., Fleischhauer, S., Greenhalgh, L., Newbury-Ecob, R. A., Neumann, L. M., Habenicht, R., Konig, R., Seemanova, E., Megarbane, A., Ropers, H.-H., Ullmann, R., Horn, D., Mundlos, S. <strong>Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.</strong> Am. J. Hum. Genet. 80: 232-240, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17236129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17236129</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17236129[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/510919" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17236129">Klopocki et al. (2007)</a> identified a common microdeletion (chr1: 144.1-144.3 Mb, NCBI36) in patients with TAR syndrome that encompasses 200 kb and 11 genes on chromosome 1q21.1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17236129" 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="#2" class="mim-tip-reference" title="Albers, C. A., Paul, D. S., Schulze, H., Freson, K., Stephens, J. C., Smethurst, P. A., Jolley, J. D., Cvejic, A., Kostadima, M., Bertone, P., Breuning, M. H., Debili, N., and 19 others. <strong>Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.</strong> Nature Genet. 44: 435-439, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366785</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22366785[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366785">Albers et al. (2012)</a> gave the genomic coordinates of the minimally deleted region as chr1:145,399,075-145,594,214 (GRCh37). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22366785" 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="Kaminsky, E. B., Kaul, V., Paschall, J., Church, D. M., Bunke, B., Kunig, D., Moreno-De-Luca, D., Moreno-De-Luca, A., Mulle, J. G., Warren, S. T., Richard, G., Compton, J. G., and 22 others. <strong>An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.</strong> Genet. Med. 13: 777-784, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21844811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21844811</a>] [<a href="https://doi.org/10.1097/GIM.0b013e31822c79f9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21844811">Kaminsky et al. (2011)</a> presented the largest copy number variant case-control study to that time, comprising 15,749 International Standards for Cytogenomic Arrays cases and 10,118 published controls, focusing on recurrent deletions and duplications involving 14 copy number variant regions. Compared with controls, 14 deletions and 7 duplications were significantly overrepresented in cases, providing a clinical diagnosis as pathogenic. The 1q21 deletion was identified in 17 cases and 1 control for a p value of 0.0026 and a frequency of 1 in 926 cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21844811" 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>Given the unclear inheritance and frequently sporadic nature of TAR syndrome, <a href="#19" class="mim-tip-reference" title="Klopocki, E., Schulze, H., Strauss, G., Ott, C.-E., Hall, J., Trotier, F., Fleischhauer, S., Greenhalgh, L., Newbury-Ecob, R. A., Neumann, L. M., Habenicht, R., Konig, R., Seemanova, E., Megarbane, A., Ropers, H.-H., Ullmann, R., Horn, D., Mundlos, S. <strong>Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.</strong> Am. J. Hum. Genet. 80: 232-240, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17236129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17236129</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17236129[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/510919" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17236129">Klopocki et al. (2007)</a> searched for genomic aberrations in 30 patients with TAR syndrome and their families, using high-resolution microarray-based comparative genomic hybridization (rearray CGH). They identified a common 200-kb deletion on the long arm of chromosome 1 in all the affected individuals and in 25 (32%) of 78 unaffected family members. The results indicated that TAR syndrome is associated with a microdeletion on 1q21.1 that is necessary but not sufficient to cause the phenotype. They postulated that the phenotype develops only in the presence of an additional modifier (mTAR). The TAR deletion does not overlap with the deletion on 1q21.1 identified in another syndrome of mental retardation and congenital anomalies (see <a href="/entry/612474">612474</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17236129" 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="#2" class="mim-tip-reference" title="Albers, C. A., Paul, D. S., Schulze, H., Freson, K., Stephens, J. C., Smethurst, P. A., Jolley, J. D., Cvejic, A., Kostadima, M., Bertone, P., Breuning, M. H., Debili, N., and 19 others. <strong>Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.</strong> Nature Genet. 44: 435-439, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366785</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22366785[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366785">Albers et al. (2012)</a> reported that 51 of 55 cases of TAR syndrome had a 200-kb deletion on 1q21 while 2 had a truncation (<a href="/entry/605313#0004">605313.0004</a>) or frameshift (<a href="/entry/605313#0003">605313.0003</a>) (null) mutation in the RBM8A gene on 1 allele. Of these 53 cases, all had 1 of 2 low-frequency SNPs in regulatory regions of RBM8A on the other allele. The likelihood that this mode of inheritance happened by chance is less than 5 x 10(-228). <a href="#19" class="mim-tip-reference" title="Klopocki, E., Schulze, H., Strauss, G., Ott, C.-E., Hall, J., Trotier, F., Fleischhauer, S., Greenhalgh, L., Newbury-Ecob, R. A., Neumann, L. M., Habenicht, R., Konig, R., Seemanova, E., Megarbane, A., Ropers, H.-H., Ullmann, R., Horn, D., Mundlos, S. <strong>Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.</strong> Am. J. Hum. Genet. 80: 232-240, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17236129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17236129</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17236129[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/510919" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17236129">Klopocki et al. (2007)</a> had demonstrated that an inherited or de novo deletion on chromosome 1q21.1 is found in the majority of individuals with TAR syndrome, but the apparent autosomal recessive nature of this syndrome required the existence of an additional causative allele. To identify the additional causative allele, <a href="#2" class="mim-tip-reference" title="Albers, C. A., Paul, D. S., Schulze, H., Freson, K., Stephens, J. C., Smethurst, P. A., Jolley, J. D., Cvejic, A., Kostadima, M., Bertone, P., Breuning, M. H., Debili, N., and 19 others. <strong>Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.</strong> Nature Genet. 44: 435-439, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366785</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22366785[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366785">Albers et al. (2012)</a> selected 5 individuals with TAR of European ancestry who had the 1q21.1 deletion and sequenced their exomes, but were unable to find TAR-associated coding mutations in any gene. However, 4 of the cases carried the minor allele of a low-frequency SNP in the 5-prime UTR of the RBM8A gene (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs139428292;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs139428292</a>; <a href="/entry/605313#0001">605313.0001</a>), while the remaining case carried a previously unknown SNP in the first intron of the same gene (<a href="/entry/605313#0002">605313.0002</a>). Genotyping by Sanger sequencing of another 48 cases of European ancestry identified the 2 SNPs in 35 and 11 samples, respectively. A mother of non-European ancestry with TAR and her fetus, aborted on the grounds of prenatal diagnosis of TAR, both did not carry the 5-prime UTR or the intronic SNP, and <a href="#2" class="mim-tip-reference" title="Albers, C. A., Paul, D. S., Schulze, H., Freson, K., Stephens, J. C., Smethurst, P. A., Jolley, J. D., Cvejic, A., Kostadima, M., Bertone, P., Breuning, M. H., Debili, N., and 19 others. <strong>Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.</strong> Nature Genet. 44: 435-439, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366785</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22366785[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366785">Albers et al. (2012)</a> suggested that in this instance there was a different causative allele. In the 25 trios where the deletion in the child was not a de novo event, <a href="#2" class="mim-tip-reference" title="Albers, C. A., Paul, D. S., Schulze, H., Freson, K., Stephens, J. C., Smethurst, P. A., Jolley, J. D., Cvejic, A., Kostadima, M., Bertone, P., Breuning, M. H., Debili, N., and 19 others. <strong>Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.</strong> Nature Genet. 44: 435-439, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366785</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22366785[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366785">Albers et al. (2012)</a> confirmed that the deletion and the newly identified SNPs were inherited from different parents. The minor allele frequency of the 5-prime UTR and intronic SNPs were 3.05% and 0.42%, respectively, in 7,504 healthy individuals of the Cambridge BioResource, and the deletion was absent from 5,919 shared healthy controls of the Wellcome Trust Case Control Consortium. There were 2 TAR cases who did not carry the 1q21.1 deletion but were found to carry the 5-prime UTR SNP. <a href="#2" class="mim-tip-reference" title="Albers, C. A., Paul, D. S., Schulze, H., Freson, K., Stephens, J. C., Smethurst, P. A., Jolley, J. D., Cvejic, A., Kostadima, M., Bertone, P., Breuning, M. H., Debili, N., and 19 others. <strong>Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.</strong> Nature Genet. 44: 435-439, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366785</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22366785[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366785">Albers et al. (2012)</a> identified a 4-bp frameshift insertion at the start of the fourth exon (<a href="/entry/605313#0003">605313.0003</a>) in the first case and established that the noncoding SNP and insertion were on different chromosomes; in the second case, they identified a nonsense mutation in the last exon of RBM8A (<a href="/entry/605313#0004">605313.0004</a>). Both mutations were absent from 458 exome samples of the 1000 Genomes Project and 416 samples from the Cohorte Lausannoise. <a href="#2" class="mim-tip-reference" title="Albers, C. A., Paul, D. S., Schulze, H., Freson, K., Stephens, J. C., Smethurst, P. A., Jolley, J. D., Cvejic, A., Kostadima, M., Bertone, P., Breuning, M. H., Debili, N., and 19 others. <strong>Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.</strong> Nature Genet. 44: 435-439, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366785</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22366785[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366785">Albers et al. (2012)</a> concluded that in the vast majority of cases, compound inheritance of a rare null allele (containing a deletion, frameshift mutation, or encoded premature stop codon) and 1 of 2 low-frequency noncoding SNPs in RBM8A causes TAR syndrome. <a href="#2" class="mim-tip-reference" title="Albers, C. A., Paul, D. S., Schulze, H., Freson, K., Stephens, J. C., Smethurst, P. A., Jolley, J. D., Cvejic, A., Kostadima, M., Bertone, P., Breuning, M. H., Debili, N., and 19 others. <strong>Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.</strong> Nature Genet. 44: 435-439, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366785</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22366785[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366785">Albers et al. (2012)</a> showed that the 2 regulatory SNPs result in diminished RBM8A transcription in vitro and that expression of Y14 (a subunit of the exon junction complex (EJC) encoded by the RBM8A gene) is reduced in platelets from individuals with TAR. <a href="#2" class="mim-tip-reference" title="Albers, C. A., Paul, D. S., Schulze, H., Freson, K., Stephens, J. C., Smethurst, P. A., Jolley, J. D., Cvejic, A., Kostadima, M., Bertone, P., Breuning, M. H., Debili, N., and 19 others. <strong>Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.</strong> Nature Genet. 44: 435-439, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366785</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22366785[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.1083" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22366785">Albers et al. (2012)</a> concluded that their data implicated Y14 insufficiency and, presumably, an EJC defect as the cause of TAR syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22366785+17236129" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Exclusion Studies</em></strong></p><p>
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<a href="#31" class="mim-tip-reference" title="Strippoli, P., Savoia, A., Iolascon, A., Tonelli, R., Savino, M., Giordano, P., D'Avanzo, M., Massolo, F., Locatelli, F., Borgna, C., De Mattia, D., Zelante, L., Paolucci, G., Bagnara, G. P. <strong>Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopenia and absent radii (TAR).</strong> Brit. J. Haemat. 103: 311-314, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9827898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9827898</a>] [<a href="https://doi.org/10.1046/j.1365-2141.1998.00991.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9827898">Strippoli et al. (1998)</a> screened the coding and promoter regions of the gene encoding the thrombopoietin receptor (TPOR; <a href="/entry/159530">159530</a>) in 4 unrelated patients affected by TAR syndrome and found no mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9827898" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#19" class="mim-tip-reference" title="Klopocki, E., Schulze, H., Strauss, G., Ott, C.-E., Hall, J., Trotier, F., Fleischhauer, S., Greenhalgh, L., Newbury-Ecob, R. A., Neumann, L. M., Habenicht, R., Konig, R., Seemanova, E., Megarbane, A., Ropers, H.-H., Ullmann, R., Horn, D., Mundlos, S. <strong>Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.</strong> Am. J. Hum. Genet. 80: 232-240, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17236129/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17236129</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17236129[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/510919" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17236129">Klopocki et al. (2007)</a> drew a parallel between a situation that may exist in the TAR syndrome and that demonstrated by the dactylaplasia mutation (Dac) in mice, the murine equivalent of human ectrodactyly. Affected patients and Dac mice have hypoplasia of the middle part of the distal limbs, a phenotype that is highly variable, ranging from syndactyly to monodactyly. Because Dac mice exhibit the ectrodactyly phenotype only on certain genetic backgrounds, <a href="#7" class="mim-tip-reference" title="Chai, C. <strong>Dactylaplasia in mice.</strong> J. Hered. 72: 234-237, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7288137/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7288137</a>] [<a href="https://doi.org/10.1093/oxfordjournals.jhered.a109486" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7288137">Chai (1981)</a> postulated that the manifestation of the mutant gene Dac is controlled by another locus, which was termed mDac. The mutation is expressed as an autosomal semidominant trait only if the mDac allele is homozygous. This hypothesis was verified by the identification of the Dac mutation (<a href="#29" class="mim-tip-reference" title="Sidow, A., Bulotsky, M. S., Kerrebrock, A. W., Birren, B. W., Altshuler, D, Jaenisch, R., Johnson, K. R., Lander, E. S. <strong>A novel member of the F-box/WD40 gene family, encoding dactylin, is disrupted in the mouse dactylaplasia mutant.</strong> Nature Genet. 23: 104-107, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10471509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10471509</a>] [<a href="https://doi.org/10.1038/12709" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10471509">Sidow et al., 1999</a>) and the mapping of mDac to the mouse chromosome 13 (<a href="#17" class="mim-tip-reference" title="Johnson, K. R., Lane, P. W., Ward-Bailey, P., Davisson, M. T. <strong>Mapping the mouse dactylaplasia mutation, Dac, and a gene that controls its expression, mdac.</strong> Genomics 29: 457-464, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8666395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8666395</a>] [<a href="https://doi.org/10.1006/geno.1995.9981" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8666395">Johnson et al., 1995</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8666395+10471509+17236129+7288137" 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="#Adeyokunnu1984" class="mim-tip-reference" title="Adeyokunnu, A. A. <strong>Radial aplasia and amegakaryocytic thrombocytopenia (TAR syndrome) among Nigerian children.</strong> Am. J. Dis. Child. 138: 346-348, 1984.">Adeyokunnu (1984)</a>; <a href="#Armitage1978" class="mim-tip-reference" title="Armitage, J. O., Hoak, J. C., Elliott, T. E., Fry, G. L. <strong>Syndrome of thrombocytopenia and absent radii: qualitative normal platelets with remission following spenectomy (sic).</strong> Scand. J. Haemat. 20: 25-28, 1978.">Armitage et al. (1978)</a>; <a href="#Dignan1967" class="mim-tip-reference" title="Dignan, P. S. J., Mauer, A. M., Frantz, C. <strong>Phocomelia with congenital hypoplastic thrombocytopenia and myeloid leukemoid reactions.</strong> J. Pediat. 70: 561-573, 1967.">Dignan et al. (1967)</a>; <a href="#Edelberg1977" class="mim-tip-reference" title="Edelberg, S. B., Cohn, J., Brandt, N. J. <strong>Congenital hypomegakaryocytic thrombocytopenia associated with bilateral absence of the radius-the TAR syndrome: intra-family variation of the clinical picture.</strong> Hum. Hered. 27: 147-152, 1977.">Edelberg et al. (1977)</a>
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<a id="Adeyokunnu1984" class="mim-anchor"></a>
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<p class="mim-text-font">
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<strong>Radial aplasia and amegakaryocytic thrombocytopenia (TAR syndrome) among Nigerian children.</strong>
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[<a href="https://doi.org/10.1001/archpedi.1984.02140420012005" target="_blank">Full Text</a>]
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<div class="">
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<p class="mim-text-font">
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Albers, C. A., Paul, D. S., Schulze, H., Freson, K., Stephens, J. C., Smethurst, P. A., Jolley, J. D., Cvejic, A., Kostadima, M., Bertone, P., Breuning, M. H., Debili, N., and 19 others.
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<strong>Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.</strong>
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Nature Genet. 44: 435-439, 2012.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22366785/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22366785</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22366785[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22366785" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.1083" target="_blank">Full Text</a>]
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<strong>Tetraphocomelia in the syndrome of thrombocytopenia with absent radii (TAR syndrome).</strong>
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[<a href="https://doi.org/10.1002/ajmg.1320200402" target="_blank">Full Text</a>]
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Armitage, J. O., Hoak, J. C., Elliott, T. E., Fry, G. L.
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[<a href="https://doi.org/10.1111/j.1600-0609.1978.tb01550.x" target="_blank">Full Text</a>]
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<strong>Thrombocytopenia--absent radii syndrome and lack of response to the pulsed dye laser. (Letter)</strong>
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<strong>TAR-like syndrome in a consanguineous Mayan girl.</strong>
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Am. J. Med. Genet. 43: 805-807, 1992.
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[<a href="https://doi.org/10.1002/ajmg.1320430510" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/oxfordjournals.jhered.a109486" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(67)80040-4" target="_blank">Full Text</a>]
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<strong>Prenatal diagnosis of thrombocytopenia absent radius syndrome by ultrasound and cordocentesis.</strong>
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[<a href="https://doi.org/10.1002/pd.1970100106" target="_blank">Full Text</a>]
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<strong>Congenital hypomegakaryocytic thrombocytopenia associated with bilateral absence of the radius-the TAR syndrome: intra-family variation of the clinical picture.</strong>
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Hum. Hered. 27: 147-152, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/863461/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">863461</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=863461" 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/10.1159/000152864" target="_blank">Full Text</a>]
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<a id="Feingold1980" class="mim-anchor"></a>
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<strong>TAR syndrome: dorsal pedal edema and excessive perspiration. (Letter)</strong>
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Greenhalgh, K. L., Howell, R. T., Bottani, A., Ancliff, P. J., Brunner, H. G., Verschuuren-Bemelmans, C. C., Vernon, E., Brown, K. W., Newbury-Ecob, R. A.
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[<a href="https://doi.org/10.1136/jmg.39.12.876" target="_blank">Full Text</a>]
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<strong>Kongenitale hypoplastische Thrombopenie mit Radius-Aplasie, ein Syndrom multipler Abartungen.</strong>
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<strong>Thrombocytopenia with absent radius (TAR).</strong>
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[<a href="https://doi.org/10.1097/00005792-196948060-00001" target="_blank">Full Text</a>]
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<strong>Thrombocytopenia and absent radius (TAR) syndrome.</strong>
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[<a href="https://doi.org/10.1136/jmg.24.2.79" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1365-2141.1988.tb02465.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1006/geno.1995.9981" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1097/GIM.0b013e31822c79f9" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/510919" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1979.tb00831.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0002-9378(16)32646-1" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.20251" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00278446" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1148/89.3.488" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320070413" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320280117" target="_blank">Full Text</a>]
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<strong>Cow's milk allergy in the syndrome of thrombocytopenia with absent radius.</strong>
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Arch. Dis. Child. 51: 337-343, 1976.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/947152/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">947152</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=947152" 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/adc.51.5.337" target="_blank">Full Text</a>]
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Ada Hamosh - updated : 10/04/2012
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Ada Hamosh - updated : 4/18/2012<br>Ada Hamosh - updated : 4/18/2012<br>Victor A. McKusick - updated : 1/17/2007<br>Cassandra L. Kniffin - updated : 2/7/2006<br>Victor A. McKusick - updated : 6/30/2003<br>Victor A. McKusick - updated : 1/27/1999
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Victor A. McKusick : 6/4/1986
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alopez : 03/17/2023
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carol : 01/28/2021<br>carol : 01/27/2021<br>carol : 03/07/2018<br>alopez : 10/04/2012<br>alopez : 4/19/2012<br>alopez : 4/19/2012<br>alopez : 4/19/2012<br>alopez : 4/19/2012<br>alopez : 4/18/2012<br>terry : 4/18/2012<br>terry : 4/18/2012<br>alopez : 10/28/2011<br>terry : 1/14/2011<br>alopez : 12/18/2008<br>carol : 12/18/2008<br>carol : 8/23/2007<br>terry : 8/8/2007<br>carol : 2/2/2007<br>alopez : 1/23/2007<br>terry : 1/17/2007<br>wwang : 2/10/2006<br>ckniffin : 2/7/2006<br>wwang : 10/18/2005<br>wwang : 10/17/2005<br>ckniffin : 10/3/2005<br>joanna : 3/17/2004<br>tkritzer : 7/7/2003<br>terry : 6/30/2003<br>carol : 2/11/1999<br>terry : 2/3/1999<br>terry : 1/27/1999<br>warfield : 4/20/1994<br>pfoster : 4/15/1994<br>mimadm : 4/14/1994<br>carol : 8/24/1992<br>supermim : 3/17/1992<br>carol : 10/24/1991
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<strong>#</strong> 274000
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THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR
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TAR SYNDROME<br />
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CHROMOSOME 1q21.1 DELETION SYNDROME, 200-KB
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<strong>SNOMEDCT:</strong> 85589009;
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<strong>ICD10CM:</strong> Q87.2;
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<strong>ORPHA:</strong> 3320;
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<strong>DO:</strong> 14699;
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<strong>Phenotype-Gene Relationships</strong>
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Phenotype <br /> MIM number
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Inheritance
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1q21.1
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Thrombocytopenia-absent radius syndrome
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<span class="mim-font">
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274000
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Autosomal recessive
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3
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RBM8A
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605313
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<p>A number sign (#) is used with this entry because most cases of thrombocytopenia-absent radius syndrome (TAR) are caused by compound heterozygosity for a rare null mutation involving the RBM8A gene (605313) on chromosome 1q21 on 1 allele (200-kb deletion involving at least 10 genes, frameshift, or premature termination), and 1 of 2 low-frequency noncoding single-nucleotide polymorphisms (SNPs) in RBM8A on the other.</p>
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<strong>Description</strong>
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<p>The thrombocytopenia-absent radius syndrome (TAR) is characterized by reduction in the number of platelets and absence of the radius; preservation of the thumb distinguishes TAR from other syndromes that combine blood abnormalities with absence of the radius, such as Fanconi anemia (see 227650). Individuals with TAR have low numbers of megakaryocytes, platelet precursor cells that reside in bone marrow, and frequently present with bleeding episodes in the first year of life that diminish in frequency and severity with age. The severity of skeletal anomalies varies from absence of radii to virtual absence of upper limbs, with or without lower limb defects such as malformations of the hip and knee (summary by Albers et al., 2012). </p>
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<p>Shaw and Oliver (1959) described sibs with absent radii and thrombocytopenia. They suggested that this disorder is distinct from Fanconi pancytopenic syndrome (227650) because there was no hypoplasia of the erythron and the blood disorder was evident in the first few months of life. The rare condition had been reported in sibs by Gross et al. (1956). In other reported cases congenital heart disease and renal malformations were found. Thrombocytopenia usually gives rise to symptoms early in life but is transient. Thus, the process is a more benign one than is Fanconi panmyelopathy, in which leukemia is a further complication. Other differences from Fanconi disease include the absence of particular change in the thumb, of pigmentary abnormalities, and of chromosomal breaks. </p><p>In a family studied at the Johns Hopkins Hospital, Hall et al. (1969), who gave the name and acronym to this syndrome, described 4 affected sisters. One with tetralogy of Fallot had died. The oldest was alive at age 27 and had 2 normal children. The occurrence of hypoplastic radius and hypoplastic thrombocytopenia with trisomy 18 (Rabinowitz et al., 1967) is of interest although a relationship to the mendelizing syndrome is doubtful. </p><p>Cow's milk intolerance is said to occur frequently in the TAR syndrome (Whitfield and Barr, 1976). Van Allen et al. (1982) showed that the radial artery is present (but with an abnormal course) in the TAR syndrome, suggesting that the radial aplasia is primary; in other forms of radial aplasia, abnormality of the blood supply appeared to be primary. Anyane-Yeboa et al. (1985) described an infant with the most severe expression in the limbs, tetraphocomelia, simulating thalidomide embryopathy. Pfeiffer and Haneke (1975) reported a similar case. The occurrence of cleft lip and palate in association with skeletal changes such as absent radius suggests Roberts syndrome (268300) or SC phocomelia (268300) rather than TAR syndrome. Clefting must be rare in TAR syndrome. Abnormalities in the legs are frequent (Ray et al., 1980; Schoenecker et al., 1984) and may be severe (e.g., Anyane-Yeboa et al., 1985). </p><p>Feingold et al. (1980) pointed out the occurrence of nonpitting dorsal pedal edema in the newborn period and excessive perspiration. The patient reported by van Haeringen et al. (1989) showed, in addition to absent radii and intermittent thrombocytopenia, cleft of the soft palate, subcricoid stenosis, duodenal atresia, and sensitivity to x-rays. In addition to reviewing the manifestations of this syndrome, Hall (1987) announced the organization of a parent support group called TARSA (Thrombocytopenia Absent Radius Syndrome Association). </p><p>Homans et al. (1988) found that megakaryocyte colony growth in vitro was virtually absent in optimally stimulated cultures of a patient's bone marrow progenitors, whereas erythroid and myeloid colony growth was preserved. Staining of the patient's bone marrow smears with antiserum against platelet membrane glycoproteins detected no immature, small megakaryocyte precursors. A high level of megakaryocyte colony stimulating activity, comparable to the levels present in sera from adults with aplastic anemia, was detected in the serum from the TAR infant. The elevated serum activity decreased by 6 months of age at which time partial platelet recovery had occurred. </p><p>Ashinoff and Geronemus (1990) described a patient with the TAR syndrome and a very large port-wine stain involving the right half of the face, scalp, neck, and chest. Flashlamp-pumped pulsed dye laser (PDL) was considered the treatment of choice for port-wine stains. However, they observed no beneficial effect after 3 treatments and postulated that severe thrombocytopenia prevented the formation of platelet thrombi, thus inhibiting the action of the PDL. </p><p>Among the children of second cousins of Mayan ancestry, Ceballos-Quintal et al. (1992) described a TAR-like syndrome. The sib described in detail had, in addition to the usual abnormalities of TAR syndrome, depressed nasal bridge, cataracts, glaucoma, megalocornea, and blue sclerae. </p><p>Greenhalgh et al. (2002) reported the results of a clinical study of 34 patients with TAR syndrome. All patients had documented thrombocytopenia and bilateral radial aplasia, 47% had lower limb anomalies, 47% intolerance to cow's milk, 23% renal anomalies, and 15% cardiac anomalies. Congenital anomalies also included facial capillary hemangiomata, intracranial vascular malformation, sensorineural hearing loss, and scoliosis. </p><p>Menghsol et al. (2003) reported a patient with TAR syndrome who also had coarctation of the aorta and axial rotation of the kidney. He died at approximately 3 weeks of age from cardiorespiratory arrest due to pneumonia and sepsis. Postmortem examination showed left ventricular hypertrophy and subendocardial fibrosis in addition to coarctation of the aorta. Other findings included adducted thumbs, radial aplasia, hypoplasia of the cerebellar vermis, and axial malrotation of the kidney, which is thought to result from abnormal migration during fetal development. </p><p>Skorka et al. (2005) reported a female infant with TAR syndrome and complete agenesis of the corpus callosum, hypoplasia of the cerebellum, and horseshoe kidney. She had cow's milk allergy, complex partial seizures with secondary generalization, and severe psychomotor retardation. She died at age 5 years of multiorgan failure following prolonged seizures. Skorka et al. (2005) concluded that cerebral dysgenesis is part of the TAR phenotype. </p>
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<strong>Inheritance</strong>
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<p>Parental consanguinity seems to be rarer than one might expect, and on segregation analysis based on the recessive hypothesis, Hall et al. (1969) found an excess of unaffected sibs. The possibility of multiple allelism was raised. </p><p>Teufel et al. (1983) gave what they claimed to be the first report of parental consanguinity. Ashinoff and Geronemus (1990) commented on the rarity of reported consanguinity. </p><p>Ward et al. (1986) reported the TAR syndrome in 2 sisters and in the daughter of one of them. The father of the affected child was said to be unrelated to the mother. Ward et al. (1986) pointed out other irregularities in the inheritance of this disorder. They suggested that 'counseling should include the possibility of recurrence risks as high as 50%.' This seems a frightening piece of information which is not justified on the basis of this single instance of parent-to-child transmission. </p><p>Schnur et al. (1987) described the TAR syndrome in a black male infant and his maternal uncle. The mother of the propositus was normal; a maternal aunt had mild radial hypoplasia, possibly representing partial expression of the syndrome. Schnur et al. (1987) found in the literature 2 other instances of aunt/nephew or uncle/niece affection. These findings, together with that of Ward et al. (1986) of parent-to-child transmission, may require an explanation. </p><p>The finding of Klopocki et al. (2007) (see CYTOGENETICS) that carriers of a 200-kb microdeletion (i.e., clinically inconspicuous parents and grandparents) are not affected implied that haploinsufficiency of the deleted region is not sufficient to cause TAR syndrome. They remarked that TAR syndrome does not appear to follow a standard autosomal dominant or complex pattern of inheritance. The possibility of genomic imprinting was excluded by the detection of maternal as well as paternal transmission of the deletion among the unaffected carrier parents. Klopocki et al. (2007) concluded that a model with one or more recessively acting modifiers, referred to as mTAR, appears likely, and proposed that TAR syndrome must be considered not a single-gene disease but a complex trait requiring at least 2 unlinked alleles--one rare, the other frequent--to manifest the phenotype. </p><p>Klopocki et al. (2007) found that the TAR microdeletion was inherited from 1 of the unaffected parents in most patients: from the mother in 12 and from the father in 5. In 1 family the deletion was demonstrated in both the affected mother and the affected fetus. The microdeletion arose de novo in 5. In the remaining patients the pattern of inheritance could not be investigated. </p>
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<strong>Diagnosis</strong>
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<p>Many skeletal dysplasias have been diagnosed prenatally after the birth of an affected sib. On the other hand, Donnenfeld et al. (1990) performed prenatal diagnosis in a primary (index) case of TAR syndrome. Ultrasound showed bilateral upper limb phocomelia and asymmetric lower limb reduction deficiencies, and cordocentesis showed thrombocytopenia and anemia. </p><p>Luthy et al. (1979) and Luthy et al. (1981) reported prenatal diagnosis of TAR by fetal radiography and ultrasound, respectively. </p>
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<p>Klopocki et al. (2007) identified a common microdeletion (chr1: 144.1-144.3 Mb, NCBI36) in patients with TAR syndrome that encompasses 200 kb and 11 genes on chromosome 1q21.1. </p><p>Albers et al. (2012) gave the genomic coordinates of the minimally deleted region as chr1:145,399,075-145,594,214 (GRCh37). </p><p>Kaminsky et al. (2011) presented the largest copy number variant case-control study to that time, comprising 15,749 International Standards for Cytogenomic Arrays cases and 10,118 published controls, focusing on recurrent deletions and duplications involving 14 copy number variant regions. Compared with controls, 14 deletions and 7 duplications were significantly overrepresented in cases, providing a clinical diagnosis as pathogenic. The 1q21 deletion was identified in 17 cases and 1 control for a p value of 0.0026 and a frequency of 1 in 926 cases. </p>
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<strong>Molecular Genetics</strong>
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<p>Given the unclear inheritance and frequently sporadic nature of TAR syndrome, Klopocki et al. (2007) searched for genomic aberrations in 30 patients with TAR syndrome and their families, using high-resolution microarray-based comparative genomic hybridization (rearray CGH). They identified a common 200-kb deletion on the long arm of chromosome 1 in all the affected individuals and in 25 (32%) of 78 unaffected family members. The results indicated that TAR syndrome is associated with a microdeletion on 1q21.1 that is necessary but not sufficient to cause the phenotype. They postulated that the phenotype develops only in the presence of an additional modifier (mTAR). The TAR deletion does not overlap with the deletion on 1q21.1 identified in another syndrome of mental retardation and congenital anomalies (see 612474). </p><p>Albers et al. (2012) reported that 51 of 55 cases of TAR syndrome had a 200-kb deletion on 1q21 while 2 had a truncation (605313.0004) or frameshift (605313.0003) (null) mutation in the RBM8A gene on 1 allele. Of these 53 cases, all had 1 of 2 low-frequency SNPs in regulatory regions of RBM8A on the other allele. The likelihood that this mode of inheritance happened by chance is less than 5 x 10(-228). Klopocki et al. (2007) had demonstrated that an inherited or de novo deletion on chromosome 1q21.1 is found in the majority of individuals with TAR syndrome, but the apparent autosomal recessive nature of this syndrome required the existence of an additional causative allele. To identify the additional causative allele, Albers et al. (2012) selected 5 individuals with TAR of European ancestry who had the 1q21.1 deletion and sequenced their exomes, but were unable to find TAR-associated coding mutations in any gene. However, 4 of the cases carried the minor allele of a low-frequency SNP in the 5-prime UTR of the RBM8A gene (rs139428292; 605313.0001), while the remaining case carried a previously unknown SNP in the first intron of the same gene (605313.0002). Genotyping by Sanger sequencing of another 48 cases of European ancestry identified the 2 SNPs in 35 and 11 samples, respectively. A mother of non-European ancestry with TAR and her fetus, aborted on the grounds of prenatal diagnosis of TAR, both did not carry the 5-prime UTR or the intronic SNP, and Albers et al. (2012) suggested that in this instance there was a different causative allele. In the 25 trios where the deletion in the child was not a de novo event, Albers et al. (2012) confirmed that the deletion and the newly identified SNPs were inherited from different parents. The minor allele frequency of the 5-prime UTR and intronic SNPs were 3.05% and 0.42%, respectively, in 7,504 healthy individuals of the Cambridge BioResource, and the deletion was absent from 5,919 shared healthy controls of the Wellcome Trust Case Control Consortium. There were 2 TAR cases who did not carry the 1q21.1 deletion but were found to carry the 5-prime UTR SNP. Albers et al. (2012) identified a 4-bp frameshift insertion at the start of the fourth exon (605313.0003) in the first case and established that the noncoding SNP and insertion were on different chromosomes; in the second case, they identified a nonsense mutation in the last exon of RBM8A (605313.0004). Both mutations were absent from 458 exome samples of the 1000 Genomes Project and 416 samples from the Cohorte Lausannoise. Albers et al. (2012) concluded that in the vast majority of cases, compound inheritance of a rare null allele (containing a deletion, frameshift mutation, or encoded premature stop codon) and 1 of 2 low-frequency noncoding SNPs in RBM8A causes TAR syndrome. Albers et al. (2012) showed that the 2 regulatory SNPs result in diminished RBM8A transcription in vitro and that expression of Y14 (a subunit of the exon junction complex (EJC) encoded by the RBM8A gene) is reduced in platelets from individuals with TAR. Albers et al. (2012) concluded that their data implicated Y14 insufficiency and, presumably, an EJC defect as the cause of TAR syndrome. </p><p><strong><em>Exclusion Studies</em></strong></p><p>
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Strippoli et al. (1998) screened the coding and promoter regions of the gene encoding the thrombopoietin receptor (TPOR; 159530) in 4 unrelated patients affected by TAR syndrome and found no mutations. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</div>
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<span class="mim-text-font">
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<p>Klopocki et al. (2007) drew a parallel between a situation that may exist in the TAR syndrome and that demonstrated by the dactylaplasia mutation (Dac) in mice, the murine equivalent of human ectrodactyly. Affected patients and Dac mice have hypoplasia of the middle part of the distal limbs, a phenotype that is highly variable, ranging from syndactyly to monodactyly. Because Dac mice exhibit the ectrodactyly phenotype only on certain genetic backgrounds, Chai (1981) postulated that the manifestation of the mutant gene Dac is controlled by another locus, which was termed mDac. The mutation is expressed as an autosomal semidominant trait only if the mDac allele is homozygous. This hypothesis was verified by the identification of the Dac mutation (Sidow et al., 1999) and the mapping of mDac to the mouse chromosome 13 (Johnson et al., 1995). </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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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Adeyokunnu (1984); Armitage et al. (1978); Dignan et al. (1967);
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Edelberg et al. (1977)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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Humangenetik 26: 157-158, 1975.
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<strong>Lower limb anomalies in the thrombocytopenia absent-radius (TAR) syndrome.</strong>
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<strong>Thrombocytopenia with absent radius in a boy and his uncle.</strong>
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<strong>Dysplasia of the knee associated with the syndrome of thrombocytopenia and absent radius.</strong>
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Sidow, A., Bulotsky, M. S., Kerrebrock, A. W., Birren, B. W., Altshuler, D, Jaenisch, R., Johnson, K. R., Lander, E. S.
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Skorka, A., Bielicka-Cymermann, J., Gieruszczak-Bialek, D., Korniszewski, L.
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Strippoli, P., Savoia, A., Iolascon, A., Tonelli, R., Savino, M., Giordano, P., D'Avanzo, M., Massolo, F., Locatelli, F., Borgna, C., De Mattia, D., Zelante, L., Paolucci, G., Bagnara, G. P.
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Van Allen, M. I., Hoyme, H. E., Jones, K. L.
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<strong>Vascular pathogenesis of limb defects: I. Radial artery anatomy in radial aplasia. (Abstract)</strong>
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van Haeringen, A., Veenstra, F., Maaswinkel-Mooij, P. D., van de Kamp, J. J. P.
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Ward, R. E., Bixler, D., Provisor, A. J., Bader, P.
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