3752 lines
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Entry
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- #224050 - CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1
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<p>
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<span class="h4">#224050</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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</li>
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<li role="presentation">
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<a href="/clinicalSynopsis/224050"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS224050"> <strong>Phenotypic Series</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="#diagnosis">Diagnosis</a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#history">History</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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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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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div><a href="https://clinicaltrials.gov/search?cond=CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=1777&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/NBK1874/" 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/2374" 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/vldlr-associated-cerebellar-hypoplasia" 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=224050[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=1766" 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/1f1cf7ef-07e4-42c1-9735-0f648d9fd899/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 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:0070556" 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/224050" 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/OMIA001947/" 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:0070556" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ORPHA:</strong> 1766<br />
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<strong>DO:</strong> 0070556<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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224050
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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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CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1<br />
|
|
CEREBELLAR HYPOPLASIA, VLDLR-ASSOCIATED<br />
|
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CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1<br />
|
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CEREBELLAR ATAXIA, CONGENITAL, AND MENTAL RETARDATION, AUTOSOMAL RECESSIVE<br />
|
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DYSEQUILIBRIUM SYNDROME; DES
|
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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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Location
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<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/9/15?start=-3&limit=10&highlight=15">
|
|
9p24.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Cerebellar hypoplasia, impaired intellectual development, and dysequilibrium syndrome 1
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/224050"> 224050 </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">
|
|
VLDLR
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/192977"> 192977 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/224050" 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">
|
|
|
|
<a href="/phenotypicSeries/PS224050" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', '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/224050" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/224050" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- 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> 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 /> -
|
|
Cataracts, postnatal <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857150&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857150</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193570009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193570009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247053007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247053007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95722004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95722004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H26.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H26.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/366" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/366.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366.9</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span><br /> -
|
|
Gaze-evoked nystagmus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1220537002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1220537002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5574666&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5574666</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000640" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000640</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000640" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000640</a>]</span><br /> -
|
|
Saccadic visual pursuit <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749676&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749676</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Feet </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pes planus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23407003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23407003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/203534009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">203534009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/53226007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">53226007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.61</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/734" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">734</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016202&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016202</a>, <a href="https://bioportal.bioontology.org/search?q=C0392477&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392477</a>, <a href="https://bioportal.bioontology.org/search?q=C0264133&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0264133</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001763" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001763</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001763" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001763</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=1f893093d35c2d1df583eed57a47b6cb" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Pes_Planus-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=1f893093d35c2d1df583eed57a47b6cb" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Psychomotor retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398991009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398991009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1144814003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1144814003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424230&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424230</a>, <a href="https://bioportal.bioontology.org/search?q=C5441816&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441816</a>]</span><br /> -
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Mental retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a>, <a href="https://bioportal.bioontology.org/search?q=C0025362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
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Poor speech development <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/229721007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">229721007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241210&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241210</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000750</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000750</a>]</span><br /> -
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Gait ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25136009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25136009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R26.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R26.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0751837&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0751837</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002066" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002066</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002066" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002066</a>]</span><br /> -
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Truncal ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/250067008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">250067008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0427190&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0427190</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002078" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002078</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002078" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002078</a>]</span><br /> -
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Disturbed equilibrium <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857149&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857149</a>]</span><br /> -
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Quadrupedal gait (in some) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2750510&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2750510</a>]</span><br /> -
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Intention tremor <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30721006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30721006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G25.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G25.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551520&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551520</a>, <a href="https://bioportal.bioontology.org/search?q=C0234376&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234376</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002345" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002345</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002080" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002080</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002080" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002080</a>]</span><br /> -
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Dysarthria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8011004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8011004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.13</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/784.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span><br /> -
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Dysmetria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32566006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32566006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234162&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234162</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001310" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001310</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001310" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001310</a>]</span><br /> -
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Dysdiadochokinesis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23133003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23133003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234979&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234979</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002075" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002075</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002075" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002075</a>]</span><br /> -
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Hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br /> -
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Hyperreflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86854008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86854008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151889&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151889</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001347</a>]</span><br /> -
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Broad-based gait <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0856863&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0856863</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002136" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002136</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002136" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002136</a>]</span><br /> -
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Seizures (rare) <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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Cortical gyral simplification <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2749675&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2749675</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009879" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009879</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009879" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009879</a>]</span><br /> -
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Pachygyria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23024003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23024003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q04.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q04.8</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q04.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q04.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266483&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266483</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001302" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001302</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001302" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001302</a>]</span><br /> -
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Cerebellar hypoplasia <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 /> -
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Cerebellar ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85102008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85102008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0007758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007758</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>]</span><br /> -
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Small brainstem <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842688&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842688</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002365</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002365</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> 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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- Congenital onset <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836142&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836142</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003577" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003577</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003577" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003577</a>]</span><br /> -
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Nonprogressive disorder <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/702322003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">702322003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3839460&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3839460</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003680" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003680</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003680" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003680</a>]</span><br /> -
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Some patients acquire late ambulation<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 very low density lipoprotein receptor (VLDLR, <a href="/entry/192977#0001">192977.0001</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small">
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<div class="row">
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<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
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<h5>
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Cerebellar ataxia, mental retardation, and dysequilibrium
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- <a href="/phenotypicSeries/PS224050">PS224050</a>
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- 4 Entries
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</h5>
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</div>
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</div>
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<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
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<table class="table table-bordered table-condensed table-hover mim-table-padding">
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<thead>
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<tr>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Location</strong>
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</th>
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<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
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<strong>Phenotype</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Inheritance</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />mapping key</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Phenotype<br />MIM number</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus</strong>
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</th>
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<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
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<strong>Gene/Locus<br />MIM number</strong>
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/8/291?start=-3&limit=10&highlight=291"> 8q12.1 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/613227"> Spinocerebellar ataxia, autosomal recessive 34 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/613227"> 613227 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/114815"> CA8 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/114815"> 114815 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/9/15?start=-3&limit=10&highlight=15"> 9p24.2 </a>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<a href="/entry/224050"> Cerebellar hypoplasia, impaired intellectual development, and dysequilibrium syndrome 1 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/224050"> 224050 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/192977"> VLDLR </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/192977"> 192977 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
|
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<span class="mim-font">
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<a href="/geneMap/13/46?start=-3&limit=10&highlight=46"> 13q12.13 </a>
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615268"> Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/615268"> 615268 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/605870"> ATP8A2 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/605870"> 605870 </a>
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</span>
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</td>
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</tr>
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<tr>
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<td>
|
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<span class="mim-font">
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|
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<a href="/geneMap/17/34?start=-3&limit=10&highlight=34"> 17p13.3 </a>
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/610185"> Cerebellar ataxia, impaired intellectual development, and dysquilibrium syndrome 2 </a>
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
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|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610185"> 610185 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614218"> WDR81 </a>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614218"> 614218 </a>
|
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</span>
|
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</td>
|
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</tr>
|
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|
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</tbody>
|
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</table>
|
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</div>
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<div class="text-right small">
|
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
|
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</div>
|
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</div>
|
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</div>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome (CAMRQ1) is caused by homozygous or compound heterozygous mutation in the VLDLR gene (<a href="/entry/192977">192977</a>), which encodes the very low density lipoprotein receptor, on chromosome 9p24.</p>
|
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</span>
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</h4>
|
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>CAMRQ1 is an autosomal recessive disorder characterized by congenital nonprogressive cerebellar ataxia, disturbed equilibrium, and impaired intellectual development, associated with cerebellar hypoplasia (<a href="#24" class="mim-tip-reference" title="Schurig, V., Van Orman, A., Bowen, P. <strong>Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites.</strong> Am. J. Med. Genet. 9: 43-53, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7246619/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7246619</a>] [<a href="https://doi.org/10.1002/ajmg.1320090109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7246619">Schurig et al., 1981</a>; <a href="#7" class="mim-tip-reference" title="Glass, H. C., Boycott, K. M., Adams, C., Barlow, K., Scott, J. N., Chudley, A. E., Fujiwara, T. M., Morgan, K., Wirrell, E., McLeod, D. R. <strong>Autosomal recessive cerebellar hypoplasia in the Hutterite population.</strong> Dev. Med. Child Neurol. 47: 691-695, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16174313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16174313</a>] [<a href="https://doi.org/10.1017/S0012162205001404" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16174313">Glass et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16174313+7246619" 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>Genetic Heterogeneity of CAMRQ</em></strong></p><p>
|
|
CAMRQ is a genetically heterogeneous disorder. See also CAMRQ2 (<a href="/entry/610185">610185</a>), caused by mutation in the WDR81 gene (614218) on chromosome 17p; CAMRQ3 (<a href="/entry/613227">613227</a>), caused by mutation in the CA8 gene (<a href="/entry/114815">114815</a>) on chromosome 8q11; and CAMRQ4 (<a href="/entry/615268">615268</a>), caused by mutation in the ATP8A2 gene (<a href="/entry/605870">605870</a>) on chromosome 13q12.</p>
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</span>
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
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<a id="clinicalFeatures" class="mim-anchor"></a>
|
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#24" class="mim-tip-reference" title="Schurig, V., Van Orman, A., Bowen, P. <strong>Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites.</strong> Am. J. Med. Genet. 9: 43-53, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7246619/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7246619</a>] [<a href="https://doi.org/10.1002/ajmg.1320090109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7246619">Schurig et al. (1981)</a> reported an autosomal recessive disorder characterized by congenital nonprogressive cerebellar ataxia with mental retardation in 11 patients among the Dariusleut Hutterites of Alberta. Delayed motor development and hypotonia were noted during the first year of life. None walked before age 3 years, and all pushed a 4-wheel appliance for support. They had mental retardation with virtually no language development. Consistent signs were unsteady, broadly based gait and stance, exaggerated deep tendon reflexes mainly in the lower limbs, and short stature. Nystagmus was not present, but some had strabismus. Three had intention tremor. One patient had seizures and another had cataracts. Computerized axial tomography showed cerebellar atrophy. <a href="#24" class="mim-tip-reference" title="Schurig, V., Van Orman, A., Bowen, P. <strong>Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites.</strong> Am. J. Med. Genet. 9: 43-53, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7246619/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7246619</a>] [<a href="https://doi.org/10.1002/ajmg.1320090109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7246619">Schurig et al. (1981)</a> noted the phenotypic similarities to the cases reported by <a href="#23" class="mim-tip-reference" title="Sanner, G. <strong>The dysequilibrium syndrome: a genetic study.</strong> Neuropadiatrie 4: 403-413, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4801892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4801892</a>] [<a href="https://doi.org/10.1055/s-0028-1091756" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4801892">Sanner (1973)</a>, who reported affected individuals born of consanguineous parents in Sweden, and those of <a href="#17" class="mim-tip-reference" title="Norman, R. M. <strong>Primary degeneration of the granular layer of the cerebellum: an unusual form of familial cerebellar atrophy occurring in early life.</strong> Brain 63: 365-379, 1940."None>Norman (1940)</a>, who described patients with nonprogressive congenital cerebellar ataxia and mental retardation associated with cerebellar hypoplasia and loss of granule cells (SCAR2; <a href="/entry/213200">213200</a>). <a href="#20" class="mim-tip-reference" title="Pallister, P. D., Opitz, J. M. <strong>Disequilibrium syndrome in Montana Hutterites.</strong> Am. J. Med. Genet. 22: 567-569, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4061489/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4061489</a>] [<a href="https://doi.org/10.1002/ajmg.1320220314" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4061489">Pallister and Opitz (1985)</a> observed a similar disorder in the Dariusleut Hutterites of Montana. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4801892+4061489+7246619" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Glass, H. C., Boycott, K. M., Adams, C., Barlow, K., Scott, J. N., Chudley, A. E., Fujiwara, T. M., Morgan, K., Wirrell, E., McLeod, D. R. <strong>Autosomal recessive cerebellar hypoplasia in the Hutterite population.</strong> Dev. Med. Child Neurol. 47: 691-695, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16174313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16174313</a>] [<a href="https://doi.org/10.1017/S0012162205001404" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16174313">Glass et al. (2005)</a> reported follow-up of the phenotype observed in Canadian Hutterites as reported by <a href="#24" class="mim-tip-reference" title="Schurig, V., Van Orman, A., Bowen, P. <strong>Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites.</strong> Am. J. Med. Genet. 9: 43-53, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7246619/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7246619</a>] [<a href="https://doi.org/10.1002/ajmg.1320090109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7246619">Schurig et al. (1981)</a>. Twelve affected individuals who belonged to 1 large pedigree were examined. All patients had significant global delay noted in infancy. All had delayed motor development and pes planus, and none achieved independent walking before age 6 years. All had cerebellar findings, including dysarthria, truncal ataxia, gait ataxia, gaze-evoked nystagmus, and mild intention tremor. Neuroimaging showed hypoplasia of the inferior portion of the cerebellum and small brainstems, particularly the pons. The gyration of the cerebral hemispheres ranged from normal to mild simplification, and there was mild cortical thickening. There was no apparent progression in the MRI changes or disease course. Five patients had seizures. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16174313+7246619" 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="Tan, U. <strong>Unertan syndrome: review and report of four new cases.</strong> Int. J. Neurosci. 118: 211-225, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18205078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18205078</a>] [<a href="https://doi.org/10.1080/00207450701667808" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18205078">Tan (2008)</a> reported a consanguineous Turkish family from a village in Canakkale in which 3 individuals had mental retardation, lack of speech development, and walked on all 4 extremities. Brain MRI showed cerebellar and vermal hypoplasia with a flattened cerebral cortex. The individuals could stand upright and even walk bipedally, despite severe ataxia, but they walked with a quadrupedal gait. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18205078" 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="#25" class="mim-tip-reference" title="Tan, U., Karaca, S., Tan, M., Yillmaz, B., Bagci, N. K., Ozkur, A., Pence, S. <strong>Unertan syndrome: a case series demonstrating human devolution.</strong> Int. J. Neurosci. 118: 1-25, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18041603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18041603</a>] [<a href="https://doi.org/10.1080/00207450701667857" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18041603">Tan et al. (2008)</a> reported another large family from southern Turkey in which 6 individuals had severe mental impairment and walked on all four extremities. Brain MRI showed absence of inferior portions of the cerebellum and vermis. One affected male exhibited 3 walking patterns at the same time: quadrupedal, tiptoe, and scissor walking. Another male showed quadrupedal locomotion and toe walking. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18041603" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#27" class="mim-tip-reference" title="Turkmen, S., Hoffmann, K., Demirhan, O., Aruoba, D., Humphrey, N., Mundlos, S. <strong>Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene.</strong> Europ. J. Hum. Genet. 16: 1070-1074, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18364738/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18364738</a>] [<a href="https://doi.org/10.1038/ejhg.2008.73" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18364738">Turkmen et al. (2008)</a> reported a family from Turkey in which 3 individuals had mental retardation, cerebellar hypoplasia, and quadrupedal locomotion associated with a homozygous deletion in the VLDLR gene (<a href="/entry/192977#0003">192977.0003</a>). The authors postulated that although the precondition for quadrupedal locomotion is cerebellar hypoplasia and ataxia, the locomotion trait is most likely a behavioral phenotype depending on special environmental influences during child development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18364738" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Moheb, L. A., Tzschach, A., Garshasbi, M., Kahrizi, K., Darvish, H., Heshmati, Y., Kordi, A., Najmabadi, H., Ropers, H. H., Kuss, A. W. <strong>Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome.</strong> Europ. J. Hum. Genet. 16: 270-273, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18043714/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18043714</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201967" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18043714">Moheb et al. (2008)</a> reported a consanguineous Iranian family in which 8 individuals had moderate to severe mental retardation, disturbed equilibrium, cerebellar ataxia, strabismus, and short stature associated with a homozygous truncating mutation in the VLDLR gene (R448X; <a href="/entry/192977#0004">192977.0004</a>). Affected individuals had either no speech at all or spoke only a few words. Motor development was retarded: they were able to sit independently between the ages of 12 and 24 months, but no patient could walk independently. No dysmorphic features or seizures were present, and brain imaging was not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18043714" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Kolb, L. E., Arlier, Z., Yalcinkaya, C., Ozturk, A. K., Moliterno, J. A., Erturk, O., Bayrakli, F., Korkmaz, B., DiLuna, M. L., Yasuno, K., Bilguvar, K., Ozcelik, T., Tuysuz, B., State, M. W., Gunel, M. <strong>Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy.</strong> Neurogenetics 11: 319-325, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20082205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20082205</a>] [<a href="https://doi.org/10.1007/s10048-009-0232-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20082205">Kolb et al. (2010)</a> reported a consanguineous Turkish family in which 2 sibs had delayed psychomotor development with speech delay, severely ataxic bipedal gait, dysarthria, dysmetria, dysdiadochokinesis, and hyperreflexia. Brain MRI showed cerebellar atrophy and predominantly frontal pachygyria. Homozygosity mapping followed by copy number variation analysis identified a homozygous 21-kb deletion in the VLDLR gene encompassing exons 2, 3, 4, and parts of exons 1 and 5 (chr9:2,612,148-2,633,338). <a href="#14" class="mim-tip-reference" title="Kolb, L. E., Arlier, Z., Yalcinkaya, C., Ozturk, A. K., Moliterno, J. A., Erturk, O., Bayrakli, F., Korkmaz, B., DiLuna, M. L., Yasuno, K., Bilguvar, K., Ozcelik, T., Tuysuz, B., State, M. W., Gunel, M. <strong>Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy.</strong> Neurogenetics 11: 319-325, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20082205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20082205</a>] [<a href="https://doi.org/10.1007/s10048-009-0232-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20082205">Kolb et al. (2010)</a> noted that the majority of patients with VLDLR mutations are able to use bipedal gait, suggesting that quadrupedal locomotion observed in some patients reflects an environmental adaptation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20082205" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Dixon-Salazar, T. J., Silhavy, J. L., Udpa, N., Schroth, J., Bielas, S., Schaffer, A. E., Olvera, J., Bafna, V., Zaki, M. S., Abdel-Salam, G. H., Mansour, L. A., Selim, L., and 17 others. <strong>Exome sequencing can improve diagnosis and alter patient management.</strong> Sci. Transl. Med. 4: 138ra78, 2012. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22700954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22700954</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22700954[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/scitranslmed.3003544" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22700954">Dixon-Salazar et al. (2012)</a> reported 2 sibs, born of consanguineous Turkish parents, with congenital cerebellar ataxia and mental retardation. The patients had microcephaly, nystagmus, mild spasticity, arachnodactyly, and pontocerebellar hypoplasia on brain imaging. The patients were initially reported as having pontocerebellar hypoplasia (<a href="#5" class="mim-tip-reference" title="Dilber, E., Aynaci, F. M., Ahmetoglu, A. <strong>Pontocerebellar hypoplasia in two siblings with dysmorphic features.</strong> J. Child Neurol. 17: 64-66, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11913577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11913577</a>] [<a href="https://doi.org/10.1177/088307380201700119" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11913577">Dilber et al., 2002</a>), but exome sequencing identified a mutation in the VLDLR gene (<a href="/entry/192977#0005">192977.0005</a>), yielding the correct diagnosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22700954+11913577" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#28" class="mim-tip-reference" title="Valence, S., Garel, C., Barth, M., Toutain, A., Paris, C., Amsallem, D., Barthez, M. A., Mayer, M., Rodriguez, D., Burglen, L. <strong>RELN and VLDLR mutations underlie two distinguishable clinico-radiological phenotypes.</strong> Clin. Genet. 90: 545-549, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27000652/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27000652</a>] [<a href="https://doi.org/10.1111/cge.12779" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27000652">Valence et al. (2016)</a> reported 4 patients from 3 families with CAMRQ1. All 4 patients, who ranged in age from 3 to 30 years, had nonprogressive congenital cerebellar ataxia and moderate to severe impaired intellectual development. Two of the patients were able to walk short distances. Smooth ocular pursuit was abnormal in 3 patients. The patients' MRIs showed a flattened pons, profound cerebellar hypoplasia, and mild cortical gyral simplification with a thickened cortex in some cases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27000652" 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>Etiology of Quadrupedal Locomotion</em></strong></p><p>
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<a href="#19" class="mim-tip-reference" title="Ozcelik, T., Akarsu, N., Uz, E., Caglayan, S., Gulsuner, S., Onat, O. E., Tan, M. <strong>Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans.</strong> Proc. Nat. Acad. Sci. 105: 4232-4236, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18326629/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18326629</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18326629[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/10.1073/pnas.0710010105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18326629">Ozcelik et al. (2008)</a> maintained that quadrupedal locomotion in the affected individuals results from abnormal function of brain structures that are critical for gait. <a href="#12" class="mim-tip-reference" title="Humphrey, N., Mundlos, S., Turkmen, S. <strong>Genes and quadrupedal locomotion in humans. (Letter)</strong> Proc. Nat. Acad. Sci. 105: E26 only, 2008. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18483196/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18483196</a>] [<a href="https://doi.org/10.1073/pnas.0802839105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18483196">Humphrey et al. (2008)</a> concluded that the tendency toward quadrupedal locomotion in affected individuals is an adaptive and effective compensation for problems with balance caused by congenital cerebellar hypoplasia. Thus, the unusual gait could be attributed to the local cultural environment. <a href="#10" class="mim-tip-reference" title="Herz, J., Boycott, K. M., Parboosingh, J. S. <strong>'Devolution' of bipedality. (Letter)</strong> Proc. Nat. Acad. Sci. 105: E25 only, 2008. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18487453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18487453</a>] [<a href="https://doi.org/10.1073/pnas.0802584105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18487453">Herz et al. (2008)</a> also concluded that quadrupedal locomotion is more likely an adaptation to severe truncal ataxia, resulting from a combination of uneven, rough surfaces in rural areas, imitation of affected sibs, and lack of supportive therapy. They suggested the designation 'DES-VLDLR.' <a href="#18" class="mim-tip-reference" title="Ozcelik, T., Akarsu, N., Uz, E., Caglayan, S., Gulsuner, S., Onat, O. E., Tan, M., Tan, U. <strong>Reply to Herz et al. and Humphrey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion. (Letter)</strong> Proc. Nat. Acad. Sci. 105: E32-E33, 2008. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18544652/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18544652</a>] [<a href="https://doi.org/10.1073/pnas.0804078105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18544652">Ozcelik et al. (2008)</a> defended their position. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18326629+18487453+18483196+18544652" 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="#21" class="mim-tip-reference" title="Quarrell, O. W. J., Hughes, H. E. <strong>The dysequilibrium syndrome. (Abstract)</strong> Clin. Genet. Soc., Aberdeen, Scotland, Sept. 22 1988."None>Quarrell and Hughes (1988)</a> noted that since postnatal cataract had been described in rare affected individuals (<a href="#23" class="mim-tip-reference" title="Sanner, G. <strong>The dysequilibrium syndrome: a genetic study.</strong> Neuropadiatrie 4: 403-413, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4801892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4801892</a>] [<a href="https://doi.org/10.1055/s-0028-1091756" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4801892">Sanner, 1973</a>; <a href="#24" class="mim-tip-reference" title="Schurig, V., Van Orman, A., Bowen, P. <strong>Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites.</strong> Am. J. Med. Genet. 9: 43-53, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7246619/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7246619</a>] [<a href="https://doi.org/10.1002/ajmg.1320090109" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7246619">Schurig et al., 1981</a>), Marinesco-Sjogren syndrome (MSS; <a href="/entry/248800">248800</a>) should be considered in the differential diagnosis. A differentiating feature is elevated creatine kinase and progressive myopathy in MSS but not in DES. <a href="#2" class="mim-tip-reference" title="Baraitser, M. <strong>Joubert syndrome with retinal dystrophy and renal cysts: reply to Dr. Di Rocco. (Letter)</strong> Am. J. Med. Genet. 46: 733 only, 1993."None>Baraitser (1993)</a> referred to a pair of sibs with a clinical picture that would fit with a diagnosis of 'ataxic cerebral palsy'; progression of the ataxia was so slight that the correct diagnosis of carbohydrate-deficient glycoprotein syndrome (<a href="/entry/212065">212065</a>) was missed. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4801892+7246619" 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="#4" class="mim-tip-reference" title="Boycott, K. M., Flavelle, S., Bureau, A., Glass, H. C., Fujiwara, T. M., Wirrell, E., Davey, K., Chudley, A. E., Scott, J. N., McLeod, D. R., Parboosingh, J. S. <strong>Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification.</strong> Am. J. Hum. Genet. 77: 477-483, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16080122/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16080122</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16080122[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/10.1086/444400" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16080122">Boycott et al. (2005)</a> used an identity-by-descent mapping approach in 8 patients from 3 interrelated Hutterite families to localize the gene for this syndrome to 9p24. Haplotype analysis identified familial and ancestral recombination events and refined the minimal region of a 2-Mb interval between markers D9S129 and D9S1871. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16080122" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By genomewide linkage analysis of 2 Turkish families with cerebellar atrophy and quadrupedal locomotion (<a href="#26" class="mim-tip-reference" title="Tan, U. <strong>Unertan syndrome: review and report of four new cases.</strong> Int. J. Neurosci. 118: 211-225, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18205078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18205078</a>] [<a href="https://doi.org/10.1080/00207450701667808" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18205078">Tan, 2008</a>; <a href="#25" class="mim-tip-reference" title="Tan, U., Karaca, S., Tan, M., Yillmaz, B., Bagci, N. K., Ozkur, A., Pence, S. <strong>Unertan syndrome: a case series demonstrating human devolution.</strong> Int. J. Neurosci. 118: 1-25, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18041603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18041603</a>] [<a href="https://doi.org/10.1080/00207450701667857" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18041603">Tan et al., 2008</a>), <a href="#19" class="mim-tip-reference" title="Ozcelik, T., Akarsu, N., Uz, E., Caglayan, S., Gulsuner, S., Onat, O. E., Tan, M. <strong>Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans.</strong> Proc. Nat. Acad. Sci. 105: 4232-4236, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18326629/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18326629</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18326629[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/10.1073/pnas.0710010105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18326629">Ozcelik et al. (2008)</a> found significant linkage (lod scores greater than 3.0) to a 1.032-Mb region on chromosome 9p24. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18041603+18205078+18326629" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of CAMRQ1 in the families reported by <a href="#4" class="mim-tip-reference" title="Boycott, K. M., Flavelle, S., Bureau, A., Glass, H. C., Fujiwara, T. M., Wirrell, E., Davey, K., Chudley, A. E., Scott, J. N., McLeod, D. R., Parboosingh, J. S. <strong>Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification.</strong> Am. J. Hum. Genet. 77: 477-483, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16080122/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16080122</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16080122[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/10.1086/444400" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16080122">Boycott et al. (2005)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16080122" 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>In affected individuals of 3 Hutterite families with DES, <a href="#4" class="mim-tip-reference" title="Boycott, K. M., Flavelle, S., Bureau, A., Glass, H. C., Fujiwara, T. M., Wirrell, E., Davey, K., Chudley, A. E., Scott, J. N., McLeod, D. R., Parboosingh, J. S. <strong>Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification.</strong> Am. J. Hum. Genet. 77: 477-483, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16080122/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16080122</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16080122[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/10.1086/444400" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16080122">Boycott et al. (2005)</a> detected a 199-kb homozygous deletion encompassing the entire VLDLR gene (<a href="/entry/192977#0001">192977.0001</a>). VLDLR is part of the reelin (RELN; <a href="/entry/600514">600514</a>) signaling pathway, which guides neuroblast migration in the cerebral cortex and cerebellum. This condition appeared to represent the first example of a malformation syndrome due to a defect in a human lipoprotein receptor and the second human disease associated with a reelin pathway defect. The other is a syndrome of autosomal recessive lissencephaly with cerebellar hypoplasia (<a href="/entry/257320">257320</a>) due to mutation in the RELN gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16080122" 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 affected members of 2 unrelated Turkish families with cerebellar hypoplasia, mental retardation, and quadrupedal locomotion, (<a href="#26" class="mim-tip-reference" title="Tan, U. <strong>Unertan syndrome: review and report of four new cases.</strong> Int. J. Neurosci. 118: 211-225, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18205078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18205078</a>] [<a href="https://doi.org/10.1080/00207450701667808" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18205078">Tan, 2008</a>; <a href="#25" class="mim-tip-reference" title="Tan, U., Karaca, S., Tan, M., Yillmaz, B., Bagci, N. K., Ozkur, A., Pence, S. <strong>Unertan syndrome: a case series demonstrating human devolution.</strong> Int. J. Neurosci. 118: 1-25, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18041603/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18041603</a>] [<a href="https://doi.org/10.1080/00207450701667857" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18041603">Tan et al., 2008</a>), <a href="#19" class="mim-tip-reference" title="Ozcelik, T., Akarsu, N., Uz, E., Caglayan, S., Gulsuner, S., Onat, O. E., Tan, M. <strong>Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans.</strong> Proc. Nat. Acad. Sci. 105: 4232-4236, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18326629/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18326629</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18326629[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/10.1073/pnas.0710010105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18326629">Ozcelik et al. (2008)</a> identified 2 different homozygous mutations in the VLDLR gene (<a href="/entry/192977#0002">192977.0002</a> and <a href="/entry/192977#0003">192977.0003</a>, respectively). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18041603+18205078+18326629" 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 2 sibs, born of consanguineous Turkish parents, with congenital cerebellar ataxia and mental retardation, <a href="#6" class="mim-tip-reference" title="Dixon-Salazar, T. J., Silhavy, J. L., Udpa, N., Schroth, J., Bielas, S., Schaffer, A. E., Olvera, J., Bafna, V., Zaki, M. S., Abdel-Salam, G. H., Mansour, L. A., Selim, L., and 17 others. <strong>Exome sequencing can improve diagnosis and alter patient management.</strong> Sci. Transl. Med. 4: 138ra78, 2012. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22700954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22700954</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22700954[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/scitranslmed.3003544" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22700954">Dixon-Salazar et al. (2012)</a> identified a homozygous truncating mutation in the VLDLR gene (<a href="/entry/192977#0005">192977.0005</a>). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and was not found in 200 controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22700954" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#28" class="mim-tip-reference" title="Valence, S., Garel, C., Barth, M., Toutain, A., Paris, C., Amsallem, D., Barthez, M. A., Mayer, M., Rodriguez, D., Burglen, L. <strong>RELN and VLDLR mutations underlie two distinguishable clinico-radiological phenotypes.</strong> Clin. Genet. 90: 545-549, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27000652/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27000652</a>] [<a href="https://doi.org/10.1111/cge.12779" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27000652">Valence et al. (2016)</a> identified homozygous or compound heterozygous mutations in the VLDLR gene (<a href="/entry/192977#0007">192977.0007</a>-<a href="/entry/192977#0011">192977.0011</a>) in 4 patients from 3 families with CAMRQ1. <a href="#28" class="mim-tip-reference" title="Valence, S., Garel, C., Barth, M., Toutain, A., Paris, C., Amsallem, D., Barthez, M. A., Mayer, M., Rodriguez, D., Burglen, L. <strong>RELN and VLDLR mutations underlie two distinguishable clinico-radiological phenotypes.</strong> Clin. Genet. 90: 545-549, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27000652/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27000652</a>] [<a href="https://doi.org/10.1111/cge.12779" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27000652">Valence et al. (2016)</a> noted that the combination of an extremely hypoplastic vermis with absent folia and cortical anomalies was strongly suggestive of a defect in the reelin pathway. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27000652" 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="#1" class="mim-tip-reference" title="Ali, B. R., Silhavy, J. L., Gleeson, M. J., Gleeson, J. G., Al-Gazali, L. <strong>A missense founder mutation in VLDLR is associated with dysequilibrium syndrome without quadrupedal locomotion.</strong> BMC Med. Genet. 13: 80, 2012. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22973972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22973972</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22973972[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/10.1186/1471-2350-13-80" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22973972">Ali et al. (2012)</a> identified a homozygous mutation in the VLDLR gene (C706F; <a href="/entry/192977#0006">192977.0006</a>) in 5 patients from 2 apparently unrelated Omani families with CAMRQ1. Haplotype analysis indicated a founder effect. The patients had classic features of the disorder, including delayed psychomotor development, hypotonia, mental retardation, lack of speech development, gait and truncal ataxia, cerebellar hypoplasia, and simplified cortical gyri. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22973972" 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>This disorder was originally called the 'dysequilibrium syndrome,' a term given by <a href="#9" class="mim-tip-reference" title="Hagberg, B., Sanner, G., Steen, M. <strong>The dysequilibrium syndrome in cerebral palsy: clinical aspects and treatment.</strong> Acta Paediat. Scand. Suppl. 226: 1-63, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4115893/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4115893</a>]" pmid="4115893">Hagberg et al. (1972)</a> and <a href="#23" class="mim-tip-reference" title="Sanner, G. <strong>The dysequilibrium syndrome: a genetic study.</strong> Neuropadiatrie 4: 403-413, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4801892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4801892</a>] [<a href="https://doi.org/10.1055/s-0028-1091756" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4801892">Sanner (1973)</a> to a form of ataxic cerebral palsy characterized by a nonprogressive variety of congenital abnormalities, including incoordination of voluntary movements, unsteady gait, and mental retardation. Affected individuals had disturbed equilibrium with severely retarded motor development. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4115893+4801892" 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>Following demonstration of the defect in VLDLR in the Hutterite form of cerebellar hypoplasia, <a href="#4" class="mim-tip-reference" title="Boycott, K. M., Flavelle, S., Bureau, A., Glass, H. C., Fujiwara, T. M., Wirrell, E., Davey, K., Chudley, A. E., Scott, J. N., McLeod, D. R., Parboosingh, J. S. <strong>Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification.</strong> Am. J. Hum. Genet. 77: 477-483, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16080122/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16080122</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16080122[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/10.1086/444400" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16080122">Boycott et al. (2005)</a> proposed that the disorder be referred to as VLDLR-associated cerebellar hypoplasia. The clinical features of nonprogressive cerebellar ataxia and mental retardation were associated with inferior cerebellar hypoplasia and mild cerebral gyral simplification. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16080122" 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>In 8 affected children with dysequilibrium syndrome, defined as an autosomal recessive form of cerebral palsy, <a href="#8" class="mim-tip-reference" title="Gustavson, K.-H., Ross, S. B., Sanner, G. <strong>Low serum dopamine-beta-hydroxylase activity in the dysequilibrium syndrome.</strong> Clin. Genet. 11: 270-272, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/852144/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">852144</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1977.tb01311.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="852144">Gustavson et al. (1977)</a> found low serum dopamine-beta-hydroxylase activity. They interpreted this as indicative of diminished activity of the sympathetic nervous system in this syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=852144" 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 Hutterites originated from one of several Anabaptist groups formed during the Protestant Reformation in the 16th century and have lived on the North American prairies since the late 1800s (<a href="#11" class="mim-tip-reference" title="Hostetler, J. A. <strong>History and relevance of the Hutterite population for genetic studies.</strong> Am. J. Med. Genet. 22: 453-462, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3904447/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3904447</a>] [<a href="https://doi.org/10.1002/ajmg.1320220303" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3904447">Hostetler, 1985</a>). According to the estimate of <a href="#16" class="mim-tip-reference" title="Nimgaonkar, V. L., Fujiwara, T. M., Dutta, M., Wood, J., Gentry, K., Maendel, S., Morgan, K., Eaton, J. <strong>Low prevalence of psychoses among the Hutterites, an isolated religious community.</strong> Am. J. Psychiat. 157: 1065-1070, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10873912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10873912</a>] [<a href="https://doi.org/10.1176/appi.ajp.157.7.1065" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10873912">Nimgaonkar et al. (2000)</a>, the population numbered more than 40,000 individuals, most of whom were descendants of 89 founders. Over 30 different autosomal recessive conditions had been described in the Hutterite population (<a href="#13" class="mim-tip-reference" title="Innes, A. M., Wrogemann, K., Zelinski, T., Coghlan, G., Maendel, S., Maendel, M., Evans, J., Greenberg, C. R. <strong>Delivery of genetic services to the Manitoba Hutterites in the molecular era. (Abstract)</strong> Am. J. Hum. Genet. (Suppl. 65) A216, 1999."None>Innes et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3904447+10873912" 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="#Bergstrom1974" class="mim-tip-reference" title="Bergstrom, K., Sanner, G. <strong>Pneumoencephalography in nonprogressive ataxic syndromes.</strong> Acta Paediat. Scand. 63: 732-742, 1974.">Bergstrom and Sanner (1974)</a>; <a href="#Rasmussen1985" class="mim-tip-reference" title="Rasmussen, F., Gustavson, K.-H., Sara, V. R., Floderus, Y. <strong>The dysequilibrium syndrome: a study of the etiology and pathogenesis.</strong> Clin. Genet. 27: 191-195, 1985.">Rasmussen et al. (1985)</a>
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Ali, B. R., Silhavy, J. L., Gleeson, M. J., Gleeson, J. G., Al-Gazali, L.
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<strong>A missense founder mutation in VLDLR is associated with dysequilibrium syndrome without quadrupedal locomotion.</strong>
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BMC Med. Genet. 13: 80, 2012. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22973972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22973972</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22973972[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=22973972" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Baraitser, M.
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<strong>Joubert syndrome with retinal dystrophy and renal cysts: reply to Dr. Di Rocco. (Letter)</strong>
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Am. J. Med. Genet. 46: 733 only, 1993.
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Bergstrom, K., Sanner, G.
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<strong>Pneumoencephalography in nonprogressive ataxic syndromes.</strong>
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Acta Paediat. Scand. 63: 732-742, 1974.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4415109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4415109</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4415109" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1651-2227.1974.tb16998.x" target="_blank">Full Text</a>]
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Boycott, K. M., Flavelle, S., Bureau, A., Glass, H. C., Fujiwara, T. M., Wirrell, E., Davey, K., Chudley, A. E., Scott, J. N., McLeod, D. R., Parboosingh, J. S.
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<strong>Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification.</strong>
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Am. J. Hum. Genet. 77: 477-483, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16080122/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16080122</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16080122[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=16080122" 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/10.1086/444400" target="_blank">Full Text</a>]
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Dilber, E., Aynaci, F. M., Ahmetoglu, A.
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<strong>Pontocerebellar hypoplasia in two siblings with dysmorphic features.</strong>
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J. Child Neurol. 17: 64-66, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11913577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11913577</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11913577" 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/10.1177/088307380201700119" target="_blank">Full Text</a>]
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Dixon-Salazar, T. J., Silhavy, J. L., Udpa, N., Schroth, J., Bielas, S., Schaffer, A. E., Olvera, J., Bafna, V., Zaki, M. S., Abdel-Salam, G. H., Mansour, L. A., Selim, L., and 17 others.
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<strong>Exome sequencing can improve diagnosis and alter patient management.</strong>
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Sci. Transl. Med. 4: 138ra78, 2012. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22700954/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22700954</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22700954[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=22700954" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Glass, H. C., Boycott, K. M., Adams, C., Barlow, K., Scott, J. N., Chudley, A. E., Fujiwara, T. M., Morgan, K., Wirrell, E., McLeod, D. R.
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<strong>Autosomal recessive cerebellar hypoplasia in the Hutterite population.</strong>
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Dev. Med. Child Neurol. 47: 691-695, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16174313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16174313</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16174313" 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/10.1017/S0012162205001404" target="_blank">Full Text</a>]
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Gustavson, K.-H., Ross, S. B., Sanner, G.
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<strong>Low serum dopamine-beta-hydroxylase activity in the dysequilibrium syndrome.</strong>
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Clin. Genet. 11: 270-272, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/852144/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">852144</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=852144" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1977.tb01311.x" target="_blank">Full Text</a>]
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Hagberg, B., Sanner, G., Steen, M.
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<strong>The dysequilibrium syndrome in cerebral palsy: clinical aspects and treatment.</strong>
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Acta Paediat. Scand. Suppl. 226: 1-63, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4115893/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4115893</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4115893" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Herz, J., Boycott, K. M., Parboosingh, J. S.
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<strong>'Devolution' of bipedality. (Letter)</strong>
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Proc. Nat. Acad. Sci. 105: E25 only, 2008. Note: Electronic Article.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18487453/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18487453</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18487453" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.0802584105" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.0804078105" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1080/00207450701667808" target="_blank">Full Text</a>]
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Hilary J. Vernon - updated : 08/29/2023
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Cassandra L. Kniffin - updated : 8/28/2013<br>Cassandra L. Kniffin - updated : 7/1/2013<br>Cassandra L. Kniffin - updated : 6/14/2011<br>Cassandra L. Kniffin - updated : 2/3/2010<br>Cassandra L. Kniffin - updated : 1/8/2009<br>Cassandra L. Kniffin - updated : 7/15/2008<br>Victor A. McKusick - updated : 9/1/2005<br>Cassandra L. Kniffin - updated : 10/9/2003
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Victor A. McKusick : 6/3/1986
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alopez : 12/04/2024
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carol : 08/29/2023<br>carol : 01/01/2023<br>carol : 12/25/2022<br>carol : 12/18/2022<br>carol : 04/02/2021<br>alopez : 09/13/2016<br>alopez : 04/08/2015<br>alopez : 3/12/2015<br>carol : 11/6/2014<br>carol : 12/9/2013<br>tpirozzi : 8/30/2013<br>ckniffin : 8/28/2013<br>carol : 7/10/2013<br>carol : 7/9/2013<br>ckniffin : 7/1/2013<br>alopez : 6/10/2013<br>ckniffin : 6/4/2013<br>wwang : 6/23/2011<br>ckniffin : 6/14/2011<br>carol : 11/12/2010<br>joanna : 3/10/2010<br>carol : 2/4/2010<br>ckniffin : 2/3/2010<br>wwang : 1/21/2009<br>ckniffin : 1/8/2009<br>joanna : 9/8/2008<br>joanna : 9/8/2008<br>ckniffin : 9/8/2008<br>ckniffin : 9/3/2008<br>ckniffin : 9/3/2008<br>wwang : 7/16/2008<br>ckniffin : 7/15/2008<br>alopez : 9/8/2005<br>alopez : 9/8/2005<br>terry : 9/1/2005<br>alopez : 3/17/2004<br>carol : 10/13/2003<br>ckniffin : 10/9/2003<br>alopez : 6/11/1997<br>mimadm : 4/17/1994<br>warfield : 3/8/1994<br>carol : 9/23/1993<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989
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<strong>#</strong> 224050
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CEREBELLAR ATAXIA, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSEQUILIBRIUM SYNDROME 1; CAMRQ1
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<em>Alternative titles; symbols</em>
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CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1<br />
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CEREBELLAR HYPOPLASIA, VLDLR-ASSOCIATED<br />
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CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1<br />
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CEREBELLAR ATAXIA, CONGENITAL, AND MENTAL RETARDATION, AUTOSOMAL RECESSIVE<br />
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DYSEQUILIBRIUM SYNDROME; DES
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<strong>ORPHA:</strong> 1766;
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<strong>DO:</strong> 0070556;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus <br /> MIM number
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9p24.2
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Cerebellar hypoplasia, impaired intellectual development, and dysequilibrium syndrome 1
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224050
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Autosomal recessive
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3
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VLDLR
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192977
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome (CAMRQ1) is caused by homozygous or compound heterozygous mutation in the VLDLR gene (192977), which encodes the very low density lipoprotein receptor, on chromosome 9p24.</p>
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<strong>Description</strong>
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<p>CAMRQ1 is an autosomal recessive disorder characterized by congenital nonprogressive cerebellar ataxia, disturbed equilibrium, and impaired intellectual development, associated with cerebellar hypoplasia (Schurig et al., 1981; Glass et al., 2005). </p><p><strong><em>Genetic Heterogeneity of CAMRQ</em></strong></p><p>
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CAMRQ is a genetically heterogeneous disorder. See also CAMRQ2 (610185), caused by mutation in the WDR81 gene (614218) on chromosome 17p; CAMRQ3 (613227), caused by mutation in the CA8 gene (114815) on chromosome 8q11; and CAMRQ4 (615268), caused by mutation in the ATP8A2 gene (605870) on chromosome 13q12.</p>
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<strong>Clinical Features</strong>
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<p>Schurig et al. (1981) reported an autosomal recessive disorder characterized by congenital nonprogressive cerebellar ataxia with mental retardation in 11 patients among the Dariusleut Hutterites of Alberta. Delayed motor development and hypotonia were noted during the first year of life. None walked before age 3 years, and all pushed a 4-wheel appliance for support. They had mental retardation with virtually no language development. Consistent signs were unsteady, broadly based gait and stance, exaggerated deep tendon reflexes mainly in the lower limbs, and short stature. Nystagmus was not present, but some had strabismus. Three had intention tremor. One patient had seizures and another had cataracts. Computerized axial tomography showed cerebellar atrophy. Schurig et al. (1981) noted the phenotypic similarities to the cases reported by Sanner (1973), who reported affected individuals born of consanguineous parents in Sweden, and those of Norman (1940), who described patients with nonprogressive congenital cerebellar ataxia and mental retardation associated with cerebellar hypoplasia and loss of granule cells (SCAR2; 213200). Pallister and Opitz (1985) observed a similar disorder in the Dariusleut Hutterites of Montana. </p><p>Glass et al. (2005) reported follow-up of the phenotype observed in Canadian Hutterites as reported by Schurig et al. (1981). Twelve affected individuals who belonged to 1 large pedigree were examined. All patients had significant global delay noted in infancy. All had delayed motor development and pes planus, and none achieved independent walking before age 6 years. All had cerebellar findings, including dysarthria, truncal ataxia, gait ataxia, gaze-evoked nystagmus, and mild intention tremor. Neuroimaging showed hypoplasia of the inferior portion of the cerebellum and small brainstems, particularly the pons. The gyration of the cerebral hemispheres ranged from normal to mild simplification, and there was mild cortical thickening. There was no apparent progression in the MRI changes or disease course. Five patients had seizures. </p><p>Tan (2008) reported a consanguineous Turkish family from a village in Canakkale in which 3 individuals had mental retardation, lack of speech development, and walked on all 4 extremities. Brain MRI showed cerebellar and vermal hypoplasia with a flattened cerebral cortex. The individuals could stand upright and even walk bipedally, despite severe ataxia, but they walked with a quadrupedal gait. </p><p>Tan et al. (2008) reported another large family from southern Turkey in which 6 individuals had severe mental impairment and walked on all four extremities. Brain MRI showed absence of inferior portions of the cerebellum and vermis. One affected male exhibited 3 walking patterns at the same time: quadrupedal, tiptoe, and scissor walking. Another male showed quadrupedal locomotion and toe walking. </p><p>Turkmen et al. (2008) reported a family from Turkey in which 3 individuals had mental retardation, cerebellar hypoplasia, and quadrupedal locomotion associated with a homozygous deletion in the VLDLR gene (192977.0003). The authors postulated that although the precondition for quadrupedal locomotion is cerebellar hypoplasia and ataxia, the locomotion trait is most likely a behavioral phenotype depending on special environmental influences during child development. </p><p>Moheb et al. (2008) reported a consanguineous Iranian family in which 8 individuals had moderate to severe mental retardation, disturbed equilibrium, cerebellar ataxia, strabismus, and short stature associated with a homozygous truncating mutation in the VLDLR gene (R448X; 192977.0004). Affected individuals had either no speech at all or spoke only a few words. Motor development was retarded: they were able to sit independently between the ages of 12 and 24 months, but no patient could walk independently. No dysmorphic features or seizures were present, and brain imaging was not performed. </p><p>Kolb et al. (2010) reported a consanguineous Turkish family in which 2 sibs had delayed psychomotor development with speech delay, severely ataxic bipedal gait, dysarthria, dysmetria, dysdiadochokinesis, and hyperreflexia. Brain MRI showed cerebellar atrophy and predominantly frontal pachygyria. Homozygosity mapping followed by copy number variation analysis identified a homozygous 21-kb deletion in the VLDLR gene encompassing exons 2, 3, 4, and parts of exons 1 and 5 (chr9:2,612,148-2,633,338). Kolb et al. (2010) noted that the majority of patients with VLDLR mutations are able to use bipedal gait, suggesting that quadrupedal locomotion observed in some patients reflects an environmental adaptation. </p><p>Dixon-Salazar et al. (2012) reported 2 sibs, born of consanguineous Turkish parents, with congenital cerebellar ataxia and mental retardation. The patients had microcephaly, nystagmus, mild spasticity, arachnodactyly, and pontocerebellar hypoplasia on brain imaging. The patients were initially reported as having pontocerebellar hypoplasia (Dilber et al., 2002), but exome sequencing identified a mutation in the VLDLR gene (192977.0005), yielding the correct diagnosis. </p><p>Valence et al. (2016) reported 4 patients from 3 families with CAMRQ1. All 4 patients, who ranged in age from 3 to 30 years, had nonprogressive congenital cerebellar ataxia and moderate to severe impaired intellectual development. Two of the patients were able to walk short distances. Smooth ocular pursuit was abnormal in 3 patients. The patients' MRIs showed a flattened pons, profound cerebellar hypoplasia, and mild cortical gyral simplification with a thickened cortex in some cases. </p><p><strong><em>Etiology of Quadrupedal Locomotion</em></strong></p><p>
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Ozcelik et al. (2008) maintained that quadrupedal locomotion in the affected individuals results from abnormal function of brain structures that are critical for gait. Humphrey et al. (2008) concluded that the tendency toward quadrupedal locomotion in affected individuals is an adaptive and effective compensation for problems with balance caused by congenital cerebellar hypoplasia. Thus, the unusual gait could be attributed to the local cultural environment. Herz et al. (2008) also concluded that quadrupedal locomotion is more likely an adaptation to severe truncal ataxia, resulting from a combination of uneven, rough surfaces in rural areas, imitation of affected sibs, and lack of supportive therapy. They suggested the designation 'DES-VLDLR.' Ozcelik et al. (2008) defended their position. </p>
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<strong>Diagnosis</strong>
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<p><strong><em>Differential Diagnosis</em></strong></p><p>
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Quarrell and Hughes (1988) noted that since postnatal cataract had been described in rare affected individuals (Sanner, 1973; Schurig et al., 1981), Marinesco-Sjogren syndrome (MSS; 248800) should be considered in the differential diagnosis. A differentiating feature is elevated creatine kinase and progressive myopathy in MSS but not in DES. Baraitser (1993) referred to a pair of sibs with a clinical picture that would fit with a diagnosis of 'ataxic cerebral palsy'; progression of the ataxia was so slight that the correct diagnosis of carbohydrate-deficient glycoprotein syndrome (212065) was missed. </p>
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<strong>Mapping</strong>
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<p>Boycott et al. (2005) used an identity-by-descent mapping approach in 8 patients from 3 interrelated Hutterite families to localize the gene for this syndrome to 9p24. Haplotype analysis identified familial and ancestral recombination events and refined the minimal region of a 2-Mb interval between markers D9S129 and D9S1871. </p><p>By genomewide linkage analysis of 2 Turkish families with cerebellar atrophy and quadrupedal locomotion (Tan, 2008; Tan et al., 2008), Ozcelik et al. (2008) found significant linkage (lod scores greater than 3.0) to a 1.032-Mb region on chromosome 9p24. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of CAMRQ1 in the families reported by Boycott et al. (2005) was consistent with autosomal recessive inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>In affected individuals of 3 Hutterite families with DES, Boycott et al. (2005) detected a 199-kb homozygous deletion encompassing the entire VLDLR gene (192977.0001). VLDLR is part of the reelin (RELN; 600514) signaling pathway, which guides neuroblast migration in the cerebral cortex and cerebellum. This condition appeared to represent the first example of a malformation syndrome due to a defect in a human lipoprotein receptor and the second human disease associated with a reelin pathway defect. The other is a syndrome of autosomal recessive lissencephaly with cerebellar hypoplasia (257320) due to mutation in the RELN gene. </p><p>In affected members of 2 unrelated Turkish families with cerebellar hypoplasia, mental retardation, and quadrupedal locomotion, (Tan, 2008; Tan et al., 2008), Ozcelik et al. (2008) identified 2 different homozygous mutations in the VLDLR gene (192977.0002 and 192977.0003, respectively). </p><p>In 2 sibs, born of consanguineous Turkish parents, with congenital cerebellar ataxia and mental retardation, Dixon-Salazar et al. (2012) identified a homozygous truncating mutation in the VLDLR gene (192977.0005). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and was not found in 200 controls. </p><p>Valence et al. (2016) identified homozygous or compound heterozygous mutations in the VLDLR gene (192977.0007-192977.0011) in 4 patients from 3 families with CAMRQ1. Valence et al. (2016) noted that the combination of an extremely hypoplastic vermis with absent folia and cortical anomalies was strongly suggestive of a defect in the reelin pathway. </p>
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<p>Ali et al. (2012) identified a homozygous mutation in the VLDLR gene (C706F; 192977.0006) in 5 patients from 2 apparently unrelated Omani families with CAMRQ1. Haplotype analysis indicated a founder effect. The patients had classic features of the disorder, including delayed psychomotor development, hypotonia, mental retardation, lack of speech development, gait and truncal ataxia, cerebellar hypoplasia, and simplified cortical gyri. </p>
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<span class="mim-text-font">
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<p>This disorder was originally called the 'dysequilibrium syndrome,' a term given by Hagberg et al. (1972) and Sanner (1973) to a form of ataxic cerebral palsy characterized by a nonprogressive variety of congenital abnormalities, including incoordination of voluntary movements, unsteady gait, and mental retardation. Affected individuals had disturbed equilibrium with severely retarded motor development. </p><p>Following demonstration of the defect in VLDLR in the Hutterite form of cerebellar hypoplasia, Boycott et al. (2005) proposed that the disorder be referred to as VLDLR-associated cerebellar hypoplasia. The clinical features of nonprogressive cerebellar ataxia and mental retardation were associated with inferior cerebellar hypoplasia and mild cerebral gyral simplification. </p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 8 affected children with dysequilibrium syndrome, defined as an autosomal recessive form of cerebral palsy, Gustavson et al. (1977) found low serum dopamine-beta-hydroxylase activity. They interpreted this as indicative of diminished activity of the sympathetic nervous system in this syndrome. </p><p>The Hutterites originated from one of several Anabaptist groups formed during the Protestant Reformation in the 16th century and have lived on the North American prairies since the late 1800s (Hostetler, 1985). According to the estimate of Nimgaonkar et al. (2000), the population numbered more than 40,000 individuals, most of whom were descendants of 89 founders. Over 30 different autosomal recessive conditions had been described in the Hutterite population (Innes et al., 1999). </p>
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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>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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Bergstrom and Sanner (1974); Rasmussen et al. (1985)
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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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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Ali, B. R., Silhavy, J. L., Gleeson, M. J., Gleeson, J. G., Al-Gazali, L.
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<strong>A missense founder mutation in VLDLR is associated with dysequilibrium syndrome without quadrupedal locomotion.</strong>
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BMC Med. Genet. 13: 80, 2012. Note: Electronic Article.
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[PubMed: 22973972]
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[Full Text: https://doi.org/10.1186/1471-2350-13-80]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Baraitser, M.
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<strong>Joubert syndrome with retinal dystrophy and renal cysts: reply to Dr. Di Rocco. (Letter)</strong>
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Am. J. Med. Genet. 46: 733 only, 1993.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Bergstrom, K., Sanner, G.
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<strong>Pneumoencephalography in nonprogressive ataxic syndromes.</strong>
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Acta Paediat. Scand. 63: 732-742, 1974.
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[PubMed: 4415109]
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[Full Text: https://doi.org/10.1111/j.1651-2227.1974.tb16998.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Boycott, K. M., Flavelle, S., Bureau, A., Glass, H. C., Fujiwara, T. M., Wirrell, E., Davey, K., Chudley, A. E., Scott, J. N., McLeod, D. R., Parboosingh, J. S.
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<strong>Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification.</strong>
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Am. J. Hum. Genet. 77: 477-483, 2005.
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[PubMed: 16080122]
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[Full Text: https://doi.org/10.1086/444400]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Dilber, E., Aynaci, F. M., Ahmetoglu, A.
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<strong>Pontocerebellar hypoplasia in two siblings with dysmorphic features.</strong>
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J. Child Neurol. 17: 64-66, 2002.
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[PubMed: 11913577]
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[Full Text: https://doi.org/10.1177/088307380201700119]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Dixon-Salazar, T. J., Silhavy, J. L., Udpa, N., Schroth, J., Bielas, S., Schaffer, A. E., Olvera, J., Bafna, V., Zaki, M. S., Abdel-Salam, G. H., Mansour, L. A., Selim, L., and 17 others.
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<strong>Exome sequencing can improve diagnosis and alter patient management.</strong>
|
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Sci. Transl. Med. 4: 138ra78, 2012. Note: Electronic Article.
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[PubMed: 22700954]
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[Full Text: https://doi.org/10.1126/scitranslmed.3003544]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Glass, H. C., Boycott, K. M., Adams, C., Barlow, K., Scott, J. N., Chudley, A. E., Fujiwara, T. M., Morgan, K., Wirrell, E., McLeod, D. R.
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|
<strong>Autosomal recessive cerebellar hypoplasia in the Hutterite population.</strong>
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Dev. Med. Child Neurol. 47: 691-695, 2005.
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[PubMed: 16174313]
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[Full Text: https://doi.org/10.1017/S0012162205001404]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Gustavson, K.-H., Ross, S. B., Sanner, G.
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<strong>Low serum dopamine-beta-hydroxylase activity in the dysequilibrium syndrome.</strong>
|
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Clin. Genet. 11: 270-272, 1977.
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[PubMed: 852144]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1977.tb01311.x]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hagberg, B., Sanner, G., Steen, M.
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<strong>The dysequilibrium syndrome in cerebral palsy: clinical aspects and treatment.</strong>
|
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Acta Paediat. Scand. Suppl. 226: 1-63, 1972.
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[PubMed: 4115893]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Herz, J., Boycott, K. M., Parboosingh, J. S.
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<strong>'Devolution' of bipedality. (Letter)</strong>
|
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Proc. Nat. Acad. Sci. 105: E25 only, 2008. Note: Electronic Article.
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[PubMed: 18487453]
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[Full Text: https://doi.org/10.1073/pnas.0802584105]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Hostetler, J. A.
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<strong>History and relevance of the Hutterite population for genetic studies.</strong>
|
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Am. J. Med. Genet. 22: 453-462, 1985.
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[PubMed: 3904447]
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[Full Text: https://doi.org/10.1002/ajmg.1320220303]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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|
Humphrey, N., Mundlos, S., Turkmen, S.
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<strong>Genes and quadrupedal locomotion in humans. (Letter)</strong>
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Proc. Nat. Acad. Sci. 105: E26 only, 2008. Note: Electronic Article.
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[PubMed: 18483196]
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[Full Text: https://doi.org/10.1073/pnas.0802839105]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Innes, A. M., Wrogemann, K., Zelinski, T., Coghlan, G., Maendel, S., Maendel, M., Evans, J., Greenberg, C. R.
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<strong>Delivery of genetic services to the Manitoba Hutterites in the molecular era. (Abstract)</strong>
|
|
Am. J. Hum. Genet. (Suppl. 65) A216, 1999.
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</p>
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<li>
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<p class="mim-text-font">
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Kolb, L. E., Arlier, Z., Yalcinkaya, C., Ozturk, A. K., Moliterno, J. A., Erturk, O., Bayrakli, F., Korkmaz, B., DiLuna, M. L., Yasuno, K., Bilguvar, K., Ozcelik, T., Tuysuz, B., State, M. W., Gunel, M.
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<strong>Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy.</strong>
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Neurogenetics 11: 319-325, 2010.
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[PubMed: 20082205]
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[Full Text: https://doi.org/10.1007/s10048-009-0232-y]
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<li>
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<p class="mim-text-font">
|
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Moheb, L. A., Tzschach, A., Garshasbi, M., Kahrizi, K., Darvish, H., Heshmati, Y., Kordi, A., Najmabadi, H., Ropers, H. H., Kuss, A. W.
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<strong>Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome.</strong>
|
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Europ. J. Hum. Genet. 16: 270-273, 2008.
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[PubMed: 18043714]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5201967]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Nimgaonkar, V. L., Fujiwara, T. M., Dutta, M., Wood, J., Gentry, K., Maendel, S., Morgan, K., Eaton, J.
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<strong>Low prevalence of psychoses among the Hutterites, an isolated religious community.</strong>
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Am. J. Psychiat. 157: 1065-1070, 2000.
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[PubMed: 10873912]
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[Full Text: https://doi.org/10.1176/appi.ajp.157.7.1065]
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<li>
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<p class="mim-text-font">
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Norman, R. M.
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<strong>Primary degeneration of the granular layer of the cerebellum: an unusual form of familial cerebellar atrophy occurring in early life.</strong>
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Brain 63: 365-379, 1940.
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<p class="mim-text-font">
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Ozcelik, T., Akarsu, N., Uz, E., Caglayan, S., Gulsuner, S., Onat, O. E., Tan, M., Tan, U.
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<strong>Reply to Herz et al. and Humphrey et al.: Genetic heterogeneity of cerebellar hypoplasia with quadrupedal locomotion. (Letter)</strong>
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Proc. Nat. Acad. Sci. 105: E32-E33, 2008. Note: Electronic Article.
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[PubMed: 18544652]
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[Full Text: https://doi.org/10.1073/pnas.0804078105]
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<li>
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<p class="mim-text-font">
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Ozcelik, T., Akarsu, N., Uz, E., Caglayan, S., Gulsuner, S., Onat, O. E., Tan, M.
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<strong>Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans.</strong>
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Proc. Nat. Acad. Sci. 105: 4232-4236, 2008.
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<p class="mim-text-font">
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Pallister, P. D., Opitz, J. M.
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<strong>Disequilibrium syndrome in Montana Hutterites.</strong>
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Am. J. Med. Genet. 22: 567-569, 1985.
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[PubMed: 4061489]
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<p class="mim-text-font">
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Quarrell, O. W. J., Hughes, H. E.
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<strong>The dysequilibrium syndrome. (Abstract)</strong>
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Clin. Genet. Soc., Aberdeen, Scotland, Sept. 22 1988.
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<p class="mim-text-font">
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Rasmussen, F., Gustavson, K.-H., Sara, V. R., Floderus, Y.
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<strong>The dysequilibrium syndrome: a study of the etiology and pathogenesis.</strong>
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Clin. Genet. 27: 191-195, 1985.
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[PubMed: 3978855]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1985.tb00210.x]
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<li>
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<p class="mim-text-font">
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Sanner, G.
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|
<strong>The dysequilibrium syndrome: a genetic study.</strong>
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|
Neuropadiatrie 4: 403-413, 1973.
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[PubMed: 4801892]
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[Full Text: https://doi.org/10.1055/s-0028-1091756]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Schurig, V., Van Orman, A., Bowen, P.
|
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<strong>Nonprogressive cerebellar disorder with mental retardation and autosomal recessive inheritance in Hutterites.</strong>
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Am. J. Med. Genet. 9: 43-53, 1981.
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[PubMed: 7246619]
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[Full Text: https://doi.org/10.1002/ajmg.1320090109]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Tan, U., Karaca, S., Tan, M., Yillmaz, B., Bagci, N. K., Ozkur, A., Pence, S.
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<strong>Unertan syndrome: a case series demonstrating human devolution.</strong>
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Int. J. Neurosci. 118: 1-25, 2008.
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[PubMed: 18041603]
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[Full Text: https://doi.org/10.1080/00207450701667857]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Tan, U.
|
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<strong>Unertan syndrome: review and report of four new cases.</strong>
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Int. J. Neurosci. 118: 211-225, 2008.
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[PubMed: 18205078]
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[Full Text: https://doi.org/10.1080/00207450701667808]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Turkmen, S., Hoffmann, K., Demirhan, O., Aruoba, D., Humphrey, N., Mundlos, S.
|
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<strong>Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene.</strong>
|
|
Europ. J. Hum. Genet. 16: 1070-1074, 2008.
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[PubMed: 18364738]
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[Full Text: https://doi.org/10.1038/ejhg.2008.73]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Valence, S., Garel, C., Barth, M., Toutain, A., Paris, C., Amsallem, D., Barthez, M. A., Mayer, M., Rodriguez, D., Burglen, L.
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<strong>RELN and VLDLR mutations underlie two distinguishable clinico-radiological phenotypes.</strong>
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|
Clin. Genet. 90: 545-549, 2016.
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[PubMed: 27000652]
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[Full Text: https://doi.org/10.1111/cge.12779]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
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Contributors:
|
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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Hilary J. Vernon - updated : 08/29/2023<br>Cassandra L. Kniffin - updated : 8/28/2013<br>Cassandra L. Kniffin - updated : 7/1/2013<br>Cassandra L. Kniffin - updated : 6/14/2011<br>Cassandra L. Kniffin - updated : 2/3/2010<br>Cassandra L. Kniffin - updated : 1/8/2009<br>Cassandra L. Kniffin - updated : 7/15/2008<br>Victor A. McKusick - updated : 9/1/2005<br>Cassandra L. Kniffin - updated : 10/9/2003
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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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<br />
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</div>
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<div>
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<div class="row">
|
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
|
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</span>
|
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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Victor A. McKusick : 6/3/1986
|
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</span>
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</div>
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</div>
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</div>
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<div>
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alopez : 12/04/2024<br>carol : 08/29/2023<br>carol : 01/01/2023<br>carol : 12/25/2022<br>carol : 12/18/2022<br>carol : 04/02/2021<br>alopez : 09/13/2016<br>alopez : 04/08/2015<br>alopez : 3/12/2015<br>carol : 11/6/2014<br>carol : 12/9/2013<br>tpirozzi : 8/30/2013<br>ckniffin : 8/28/2013<br>carol : 7/10/2013<br>carol : 7/9/2013<br>ckniffin : 7/1/2013<br>alopez : 6/10/2013<br>ckniffin : 6/4/2013<br>wwang : 6/23/2011<br>ckniffin : 6/14/2011<br>carol : 11/12/2010<br>joanna : 3/10/2010<br>carol : 2/4/2010<br>ckniffin : 2/3/2010<br>wwang : 1/21/2009<br>ckniffin : 1/8/2009<br>joanna : 9/8/2008<br>joanna : 9/8/2008<br>ckniffin : 9/8/2008<br>ckniffin : 9/3/2008<br>ckniffin : 9/3/2008<br>wwang : 7/16/2008<br>ckniffin : 7/15/2008<br>alopez : 9/8/2005<br>alopez : 9/8/2005<br>terry : 9/1/2005<br>alopez : 3/17/2004<br>carol : 10/13/2003<br>ckniffin : 10/9/2003<br>alopez : 6/11/1997<br>mimadm : 4/17/1994<br>warfield : 3/8/1994<br>carol : 9/23/1993<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989
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