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<title>
Entry
- #218000 - AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN
- OMIM
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<span class="h4">#218000</span>
<br />
<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/218000"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY" 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>
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=448&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>
<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1372/" 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 style="display: table-cell;">Animal Models</div>
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<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0090003" 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>
<div><a href="http://www.informatics.jax.org/disease/218000" 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>
<div><a href="https://omia.org/OMIA002279/" 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>
<div><a href="https://wormbase.org/resources/disease/DOID:0090003" 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>
<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 702439002<br />
<strong>ORPHA:</strong> 1496<br />
<strong>DO:</strong> 0090003<br />
">ICD+</a>
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<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
218000
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<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN
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<a id="alternativeTitles" class="mim-anchor"></a>
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<em>Alternative titles; symbols</em>
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<h4>
<span class="mim-font">
CHARLEVOIX DISEASE<br />
ANDERMANN SYNDROME<br />
POLYNEUROPATHY, SENSORIMOTOR, WITH OR WITHOUT AGENESIS OF THE CORPUS CALLOSUM<br />
CORPUS CALLOSUM, AGENESIS OF, WITH NEURONOPATHY
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<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
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</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<tr class="active">
<th>
Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<tbody>
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<td>
<span class="mim-font">
<a href="/geneMap/15/71?start=-3&limit=10&highlight=71">
15q14
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</td>
<td>
<span class="mim-font">
Agenesis of the corpus callosum with peripheral neuropathy
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<span class="mim-font">
<a href="/entry/218000"> 218000 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<td>
<span class="mim-font">
SLC12A6
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<span class="mim-font">
<a href="/entry/604878"> 604878 </a>
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</td>
</tr>
</tbody>
</table>
</div>
</div>
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<a href="/clinicalSynopsis/218000" 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')">
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PheneGene Graphics <span class="caret"></span>
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<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/218000" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/218000" 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 />
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
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<span class="h5 mim-font">
<strong> INHERITANCE </strong>
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<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>
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</div>
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<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
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<div style="margin-left: 2em;">
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<div>
<span class="h5 mim-font">
<em> Head </em>
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<div style="margin-left: 2em;">
<span class="mim-font">
- Brachycephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13649004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13649004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221356&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221356</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000248" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000248</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000248" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000248</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9ccc4d161e106e4d5543286323f007ce" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Brachycephaly-Large-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9ccc4d161e106e4d5543286323f007ce&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
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<div style="margin-left: 2em;">
<span class="mim-font">
- Narrow forehead <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839758</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000341" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000341</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000341" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000341</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=130363281c65526c396a969f71815381" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Forehead,Narrow-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=130363281c65526c396a969f71815381&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Hypoplastic maxilla <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.03</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240310&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240310</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000327" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000327</a>]</span><br /> -
Facial asymmetry <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13851000119109" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13851000119109</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15253005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15253005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1306710&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1306710</a>, <a href="https://bioportal.bioontology.org/search?q=C0546952&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0546952</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000324</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000324</a>]</span><br /> -
Facial diplegia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836003&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836003</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001349" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001349</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001349" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001349</a>]</span><br /> -
Long face <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836047&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836047</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000276" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000276</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000276" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000276</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=729bf273c6a346c2f07ab0965824ffb2" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Face,Long-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=729bf273c6a346c2f07ab0965824ffb2&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Large ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/275480001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">275480001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0554972&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0554972</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000400" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000400</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000400" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000400</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hypertelorism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22006008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020534</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Ptosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11934000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11934000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29696001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29696001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.409" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.409</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/374.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.3</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/374.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005745&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005745</a>, <a href="https://bioportal.bioontology.org/search?q=C0033377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033377</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Ptosis-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Gaze palsies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1112261&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1112261</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Nose </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Broad nasal root <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249321001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249321001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849367&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849367</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000431" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000431</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000431" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000431</a>]</span><br /> -
Short nose <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854114&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854114</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003196" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003196</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003196" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003196</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=25661c4279536e7705f328dbb0964878" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Nose,Short-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=25661c4279536e7705f328dbb0964878&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- High-arched palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27272007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27272007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q38.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q38.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240635</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span><br /> -
Protruding, fissured tongue <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968795&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968795</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> RESPIRATORY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Restrictive respiratory disease <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277226&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277226</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002091" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002091</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002091" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002091</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Joint contractures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7890003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7890003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M24.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M24.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/718.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.4</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/718.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">718.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009918&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009918</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034392" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034392</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Spine </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Long tapered fingers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837264&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837264</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Syndactyly of the second and third toes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551570&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551570</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004691" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004691</a>]</span><br /> -
Overriding of the first toe <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968798&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968798</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Hair </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Low hairline <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850639&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850639</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MUSCLE, SOFT TISSUES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Progressive distal and proximal symmetric limb weakness <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968796&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968796</a>]</span><br /> -
Neonatal hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/240080003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">240080003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205294008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205294008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33010005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33010005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/P94.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">P94.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0343239&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0343239</a>, <a href="https://bioportal.bioontology.org/search?q=C0270971&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0270971</a>, <a href="https://bioportal.bioontology.org/search?q=C2267233&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2267233</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001319</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001319</a>]</span><br /> -
Amyotrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/88092000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">88092000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0541794&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0541794</a>, <a href="https://bioportal.bioontology.org/search?q=C0026846&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026846</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003202" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003202</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003202" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003202</a>]</span><br /> -
EMG shows denervation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968797&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968797</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Delayed motor milestones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854301&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854301</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span><br /> -
Developmental delay <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248290002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248290002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/224958001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">224958001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F88</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/315.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">315.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0557874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0557874</a>, <a href="https://bioportal.bioontology.org/search?q=C0424605&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424605</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span><br /> -
Hypotonia, generalized <span class="mim-feature-ids hidden">[UMLS: <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>]</span> <span class="mim-feature-ids hidden">[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>]</span><br /> -
Mental retardation, mild to severe <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837502&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837502</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
Individuals can stand or walk with support by 4 to 6 years of age <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968785&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968785</a>]</span><br /> -
Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
Agenesis of the corpus callosum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/5102002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">5102002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q04.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q04.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0175754&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0175754</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001274" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001274</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001274" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001274</a>]</span><br /> -
Enlarged ventricles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3278923&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278923</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002119</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002119</a>]</span><br /> -
Axonal swelling of spinal nerve roots and cranial nerves <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968786&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968786</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Peripheral Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Peripheral motor neuropathy, severe <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968787&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968787</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95663000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95663000</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007178" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007178</a>]</span><br /> -
Peripheral sensory neuropathy, severe <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968788&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968788</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95662005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95662005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/789588003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">789588003</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000763" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000763</a>]</span><br /> -
Areflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37280007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37280007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234146&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234146</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001284</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001284" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001284</a>]</span><br /> -
Limb tremor <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235081&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235081</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200085" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200085</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200085" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200085</a>]</span><br /> -
Sural nerve biopsy shows absence of large myelinated fibers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968789&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968789</a>]</span><br /> -
Axonal neuropathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60703000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60703000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0270921&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0270921</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003477" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003477</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003477" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003477</a>]</span><br /> -
Axonal degeneration/regeneration <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968790&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968790</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003378" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003378</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003378" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003378</a>]</span><br /> -
Demyelinating neuropathy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23414001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23414001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0270922&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0270922</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007108" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007108</a>]</span><br /> -
'Onion bulb' formations <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847906&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847906</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003383" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003383</a>]</span><br /> -
Hypomyelinated fibers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968791&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968791</a>]</span><br /> -
Decreased motor and sensory nerve conduction velocities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968792&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968792</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Behavioral Psychiatric Manifestations </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hallucinatory psychosis develops during adolescence <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1968793&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1968793</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Increased CSF protein <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1806780&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1806780</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002922" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002922</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002922" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002922</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Onset within the first year of life<br /> -
Progressive disorder <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864985&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864985</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003676</a>]</span><br /> -
Most individuals are wheelchair-bound or bedridden by adolescence<br /> -
Death in third or fourth decades, usually due to respiratory infection<br /> -
Increased frequency in the Charlevoix and Saguenat-Lac-St-Jean regions of Quebec, Canada (1 in 2,117 live births, carrier rate 1 in 23)<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the solute carrier family 12 (sodium/chloride transporter), member 6 gene (SLC12A6, <a href="/entry/604878#0001">604878.0001</a>)<br />
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<p>A number sign (#) is used with this entry because autosomal recessive agenesis of the corpus callosum with peripheral neuropathy (ACCPN), also known as Andermann syndrome, is caused by homozygous or compound heterozygous mutation in the SLC12A6 gene (<a href="/entry/604878">604878</a>) on chromosome 15q14.</p>
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<p>Andermann syndrome is an autosomal recessive motor and sensory neuropathy with agenesis of the corpus callosum associated with developmental and neurodegenerative defects and dysmorphic features. It has a high prevalence in the French Canadian population in the Charlevoix and Saguenay-Lac-Saint-Jean region of Quebec (<a href="#17" class="mim-tip-reference" title="Uyanik, G., Elcioglu, N., Penzien, J., Gross, C., Yilmaz, Y., Olmez, A., Demir, E., Wahl, D., Scheglmann, K., Winner, B., Bogdahn, U., Topaloglu, H., Hehr, U., Winkler, J. &lt;strong&gt;Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome.&lt;/strong&gt; Neurology 66: 1044-1048, 2006. Note: Erratum: Neurology 67: 1528 only, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16606917/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16606917&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000204181.31175.8b&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16606917">Uyanik et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16606917" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Dupre, N., Howard, H. C., Mathieu, J., Karpati, G., Vanasse, M., Bouchard, J.-P., Carpenter, S., Rouleau, G. A. &lt;strong&gt;Hereditary motor and sensory neuropathy with agenesis of the corpus callosum.&lt;/strong&gt; Ann. Neurol. 54: 9-18, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12838516/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12838516&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.77777&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12838516">Dupre et al. (2003)</a> provided a comprehensive review of the disorder. <a href="#8" class="mim-tip-reference" title="Dobyns, W. B. &lt;strong&gt;Absence makes the search grow longer. (Editorial)&lt;/strong&gt; Am. J. Hum. Genet. 58: 7-16, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8554070/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8554070&lt;/a&gt;]" pmid="8554070">Dobyns (1996)</a> reviewed the many genetic causes of agenesis of the corpus callosum. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12838516+8554070" 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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<strong>Clinical Features</strong>
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<p><a href="#14" class="mim-tip-reference" title="Naiman, J. L., Fraser, F. C. &lt;strong&gt;Agenesis of the corpus callosum: a report of two cases in siblings.&lt;/strong&gt; Arch. Neurol. Psychiat. 74: 182-185, 1955.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14397896/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14397896&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archneurpsyc.1955.02330140066013&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14397896">Naiman and Fraser (1955)</a> described 2 sisters, and <a href="#18" class="mim-tip-reference" title="Ziegler, E. &lt;strong&gt;Boesartige familiaere fruehinfantile Krampfkrankheit, teilweise verbunden mit familiaerer Balkenaplasie.&lt;/strong&gt; Helv. Paediat. Acta 13: 169-184, 1958.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13548803/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;13548803&lt;/a&gt;]" pmid="13548803">Ziegler (1958)</a> described 2 brothers with agenesis of the corpus callosum associated with mental and physical retardation. <a href="#2" class="mim-tip-reference" title="Andermann, F., Andermann, E., Joubert, M., Karpati, G., Carpenter, S., Melancon, D. &lt;strong&gt;Familial agenesis of the corpus callosum with anterior horn cell disease: a syndrome of mental retardation, areflexia, and paraplegia.&lt;/strong&gt; Trans. Am. Neurol. Assoc. 97: 242-244, 1972."None>Andermann et al. (1972)</a> observed 2 brothers with mental retardation, areflexia and paraparesis. The authors postulated an anterior horn cell disease. The clinical picture was the same as in the sisters reported by <a href="#14" class="mim-tip-reference" title="Naiman, J. L., Fraser, F. C. &lt;strong&gt;Agenesis of the corpus callosum: a report of two cases in siblings.&lt;/strong&gt; Arch. Neurol. Psychiat. 74: 182-185, 1955.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14397896/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14397896&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archneurpsyc.1955.02330140066013&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14397896">Naiman and Fraser (1955)</a> and the 2 families were French Canadian from the Charlevoix County in Quebec. <a href="#1" class="mim-tip-reference" title="Andermann, E., Andermann, F., Carpenter, S., Karpati, G., Eisen, A., Melancon, D., Bergeron, J. &lt;strong&gt;Agenesis of the corpus callosum with sensorimotor neuronopathy: a new autosomal recessive malformation syndrome with high frequency in Charlevoix County, Quebec. (Abstract)&lt;/strong&gt; Vth International Conference on Birth Defects, Montreal, August 1977."None>Andermann et al. (1977)</a> extended these studies to identify 45 patients in 24 sibships, descendants from a couple married in Quebec City, Charlevoix County, in 1657. Brain CT imaging demonstrated agenesis of the corpus callosum. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13548803+14397896" 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="#4" class="mim-tip-reference" title="Cao, A., Cianchetti, C., Signorini, E., Loi, M., Sanna, G., De Virgiliis, S. &lt;strong&gt;Agenesis of the corpus callosum, infantile spasms, spastic quadriplegia, microcephaly and mental retardation in three siblings.&lt;/strong&gt; Clin. Genet. 12: 290-296, 1977.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/589850/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;589850&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1977.tb00943.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="589850">Cao et al. (1977)</a> reported 3 sibs, a male and 2 females, with severe mental retardation, spastic quadriplegia, microcephaly, and infantile spasms. Two sibs had agenesis of the corpus callosum on pneumoencephalogram. Other reports of familial agenesis of the corpus callosum consistent with autosomal recessive inheritance were published by <a href="#16" class="mim-tip-reference" title="Shapira, Y., Cohen, T. &lt;strong&gt;Agenesis of the corpus callosum in two sisters.&lt;/strong&gt; J. Med. Genet. 10: 266-269, 1973.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4204338/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4204338&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.10.3.266&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4204338">Shapira and Cohen (1973)</a> and <a href="#6" class="mim-tip-reference" title="Castro Gago, M., Rodriguez, E., Ugarte, J., Diaz Cardama, I., Alonso, A., Pena, J. &lt;strong&gt;Agenesia hereditaria del cuerpo calloso: una nueva forma.&lt;/strong&gt; Rev. Esp. Pediat. 38: 349-353, 1982."None>Castro Gago et al. (1982)</a>. The former report concerned 2 affected sisters whose parents were more closely related than first cousins. The latter report concerned 2 sisters and 2 daughters of a paternal uncle of their father. The 2 sisters, studied at 6 years and 15 months of age, respectively, had progressive psychomotor regression, microcephaly, optic atrophy and seizures. CT scan showed absence of the corpus callosum, subcortical atrophy and gray substance heterotopy at the level of the ventricles. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=589850+4204338" 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="#13" class="mim-tip-reference" title="Larbrisseau, A., Vanasse, M., Brochu, P., Jasmin, G. &lt;strong&gt;The Andermann syndrome: agenesis of the corpus callosum associated with mental retardation and progressive sensorimotor neuronopathy.&lt;/strong&gt; Canad. J. Neurol. Sci. 11: 257-261, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6329500/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6329500&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1017/s0317167100045509&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6329500">Larbrisseau et al. (1984)</a> studied 15 cases and described a characteristic dysmorphic facies. The authors observed that progressive motor neuropathy led to loss of ambulation by adolescence and progressive scoliosis. <a href="#10" class="mim-tip-reference" title="Hauser, E., Bittner, R., Liegl, C., Bernert, G., Zeitlhofer, J. &lt;strong&gt;Occurrence of Andermann syndrome out of French Canada: agenesis of the corpus callosum with neuronopathy.&lt;/strong&gt; Neuropediatrics 24: 107-110, 1993. Note: Erratum: Neuropediatrics 24: 239 only, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8292134/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8292134&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1055/s-2008-1071524&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8292134">Hauser et al. (1993)</a> reported cases of agenesis of the corpus callosum with neuronopathy in a brother and sister in Vienna. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6329500+8292134" 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="#17" class="mim-tip-reference" title="Uyanik, G., Elcioglu, N., Penzien, J., Gross, C., Yilmaz, Y., Olmez, A., Demir, E., Wahl, D., Scheglmann, K., Winner, B., Bogdahn, U., Topaloglu, H., Hehr, U., Winkler, J. &lt;strong&gt;Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome.&lt;/strong&gt; Neurology 66: 1044-1048, 2006. Note: Erratum: Neurology 67: 1528 only, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16606917/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16606917&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000204181.31175.8b&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16606917">Uyanik et al. (2006)</a> reported 3 unrelated patients with Andermann syndrome; 1 was German and 2 Turkish. The German child presented at age 13 days with feeding difficulties and hypotonia. Over the next few months, she was found to have complete absence of the corpus callosum with ventricular enlargement and areflexia with an axonal and demyelinating peripheral neuropathy. Lumbar puncture showed increased CSF protein. At age 3 years, she had marked psychomotor retardation with inability to walk or speak. Mild facial dysmorphism was present, including hypertelorism, short nose, broad nasal root, and downplaced first toe and thumb. The second child, born of consanguineous Turkish parents, presented with diffuse hypotonic weakness, psychomotor retardation, and afebrile seizures. She had mild mental retardation, high-arched palate, elongated facies, esotropia of the right eye, ptosis, facial diplegia, areflexia, and distal wasting of the limbs. She had complete ACC and an axonal/demyelinating motor and sensory neuropathy with decreased nerve conduction velocities. The third child, born of second-degree Turkish cousins, had hypotonia and psychomotor retardation. He could walk with support at age 5 years and developed some speech. He had complete ACC and peripheral neuropathy but was less severely affected in the upper limbs. He also had bilateral diffuse white matter abnormalities, which had not previously been reported in this syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16606917" 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 ACCPN in the families reported by <a href="#12" class="mim-tip-reference" title="Howard, H. C., Mount, D. B., Rochefort, D., Byun, N., Dupre, N., Lu, J., Fan, X., Song, L., Riviere, J.-B., Prevost, C., Horst, J., Simonati, A., and 12 others. &lt;strong&gt;The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.&lt;/strong&gt; Nature Genet. 32: 384-392, 2002. Note: Erratum: Nature Genet. 32: 681 only, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12368912/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12368912&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1002&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12368912">Howard et al. (2002)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12368912" 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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<strong>Mapping</strong>
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<p><a href="#5" class="mim-tip-reference" title="Casaubon, L. K., Melanson, M., Lopes-Cendes, I., Marineau, C., Andermann, E., Andermann, F., Weissenbach, J., Prevost, C., Bouchard, J.-P., Mathieu, J., Rouleau, G. A. &lt;strong&gt;The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q.&lt;/strong&gt; Am. J. Hum. Genet. 58: 28-34, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8554065/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8554065&lt;/a&gt;]" pmid="8554065">Casaubon et al. (1996)</a> performed linkage studies with 120 microsatellite DNA markers to position the ACCPN gene to a 5-cM region on 15q13-q15, flanked by markers D15S1040 and D15S118. A maximum 2-point lod score of 11.1 was obtained with the markers D15S971 at a recombination fraction of 0.0. Haplotype analysis and linkage disequilibrium supported the existence of the previously suspected founder effect. The authors stated that this finding was the first step in the identification of the gene responsible for ACCPN, which may shed light on numerous conditions associated with progressive peripheral neuropathy or agenesis of the corpus callosum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8554065" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Howard, H. C., Dube, M.-P., Prevost, C., Bouchard, J.-P., Mathieu, J., Rouleau, G. A. &lt;strong&gt;Fine mapping the candidate region for peripheral neuropathy with or without agenesis of the corpus callosum in the French Canadian population.&lt;/strong&gt; Europ. J. Hum. Genet. 10: 406-412, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12107814/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12107814&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/sj.ejhg.5200815&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12107814">Howard et al. (2002)</a> typed 11 polymorphic markers on chromosome 15 in 231 individuals from 50 seemingly unrelated French Canadian ACCPN families. Haplotype analysis confirmed the presence of a founder haplotype, and recombination events reduced the ACCPN candidate interval to a region of approximately 2 cM or 1000 kb between markers D15S1040 and ACTC. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12107814" 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 id="molecularGenetics" class="mim-anchor"></a>
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<strong>Molecular Genetics</strong>
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<p>The K-Cl cotransporter KCC3, encoded by the SLC12A6 gene, maps within the ACCPN candidate region, prompting <a href="#12" class="mim-tip-reference" title="Howard, H. C., Mount, D. B., Rochefort, D., Byun, N., Dupre, N., Lu, J., Fan, X., Song, L., Riviere, J.-B., Prevost, C., Horst, J., Simonati, A., and 12 others. &lt;strong&gt;The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.&lt;/strong&gt; Nature Genet. 32: 384-392, 2002. Note: Erratum: Nature Genet. 32: 681 only, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12368912/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12368912&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1002&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12368912">Howard et al. (2002)</a> to screen that gene for mutations in individuals with ACCPN. Four distinct protein-truncated mutations (<a href="/entry/604878#0001">604878.0001</a>-<a href="/entry/604878#0004">604878.0004</a>) were found: 2 in the French Canadian population and 2 in non-French Canadian families. A 1-bp deletion (2436delG; <a href="/entry/604878#0001">604878.0001</a>) was determined to be a founder mutation in the French Canadian population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12368912" 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 3 unrelated patients with Andermann syndrome, <a href="#17" class="mim-tip-reference" title="Uyanik, G., Elcioglu, N., Penzien, J., Gross, C., Yilmaz, Y., Olmez, A., Demir, E., Wahl, D., Scheglmann, K., Winner, B., Bogdahn, U., Topaloglu, H., Hehr, U., Winkler, J. &lt;strong&gt;Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome.&lt;/strong&gt; Neurology 66: 1044-1048, 2006. Note: Erratum: Neurology 67: 1528 only, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16606917/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16606917&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000204181.31175.8b&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16606917">Uyanik et al. (2006)</a> identified 4 different mutations in the SLC12A6 gene (<a href="/entry/604878#0005">604878.0005</a>-<a href="/entry/604878#0008">604878.0008</a>). Two were of Turkish descent, and 1 was German. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16606917" 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="Salin-Cantegrel, A., Riviere, J.-B., Dupre, N., Charron, F. M., Shekarabi, M., Karemera, L., Gaspar, C., Horst, J., Tekin, M., Deda, G., Krause, A., Lippert, M. M., Willemsen, M. A. A. P., Jarrer, R., Lapointe, J.-Y., Rouleau, G. A. &lt;strong&gt;Distal truncation of KCC3 in non-French Canadian HMSN/ACC families.&lt;/strong&gt; Neurology 69: 1350-1355, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17893295/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17893295&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/01.wnl.0000291779.35643.15&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17893295">Salin-Cantegrel et al. (2007)</a> identified 2 mutations in exon 22 of the SLC12A6 gene (<a href="/entry/604878#0003">604878.0003</a>; <a href="/entry/604878#0009">604878.0009</a>) in non-French Canadian patients with ACCPN, including families from Turkey, South Africa, Sudan, and the Netherlands. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17893295" 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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<strong>Population Genetics</strong>
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<p><a href="#7" class="mim-tip-reference" title="De Braekeleer, M., Dallaire, A., Mathieu, J. &lt;strong&gt;Genetic epidemiology of sensorimotor polyneuropathy with or without agenesis of the corpus callosum in northeastern Quebec.&lt;/strong&gt; Hum. Genet. 91: 223-227, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8386695/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8386695&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00218260&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8386695">De Braekeleer et al. (1993)</a> estimated that in the Saguenay-Lac-Saint-Jean region of northeastern Quebec the incidence at birth was 1 in 2,117 liveborns, and the carrier rate was 1 in 23 inhabitants. Remote consanguinity was found in several families, while the mean kinship coefficient was 2.7 times higher in the polyneuropathic group than in control groups. Genealogic reconstruction suggested that the high incidence is probably the result of founder effect and that a unique mutation accounts for most, if not all, of the cases known in this region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8386695" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Howard, H. C., Mount, D. B., Rochefort, D., Byun, N., Dupre, N., Lu, J., Fan, X., Song, L., Riviere, J.-B., Prevost, C., Horst, J., Simonati, A., and 12 others. &lt;strong&gt;The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.&lt;/strong&gt; Nature Genet. 32: 384-392, 2002. Note: Erratum: Nature Genet. 32: 681 only, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12368912/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12368912&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1002&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12368912">Howard et al. (2002)</a> determined that a 1-bp deletion (2436delG) was a founder mutation in the French Canadian population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12368912" 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 id="animalModel" class="mim-anchor"></a>
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<span id="mimAnimalModelToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
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<strong>Animal Model</strong>
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<div id="mimAnimalModelFold" class="collapse in mimTextToggleFold">
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<p><a href="#12" class="mim-tip-reference" title="Howard, H. C., Mount, D. B., Rochefort, D., Byun, N., Dupre, N., Lu, J., Fan, X., Song, L., Riviere, J.-B., Prevost, C., Horst, J., Simonati, A., and 12 others. &lt;strong&gt;The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.&lt;/strong&gt; Nature Genet. 32: 384-392, 2002. Note: Erratum: Nature Genet. 32: 681 only, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12368912/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12368912&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1002&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12368912">Howard et al. (2002)</a> found that mice with a targeted deletion of the Slc12a6 gene had a locomotor deficit, peripheral neuropathy, and a sensorimotor gating deficit, similar to the human disease. The findings suggested a critical role for SLC12A6 in the development and maintenance of the nervous system. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12368912" 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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<div>
<a id="seeAlso" class="mim-anchor"></a>
<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span class="mim-font">
<span id="mimSeeAlsoToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>See Also:</strong>
</span>
</h4>
<div id="mimSeeAlsoFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<a href="#Battistella1987" class="mim-tip-reference" title="Battistella, P. A., Drigo, P., Laverda, A. M., Casara, G. L., De Martin, P. G., Condini, A. &lt;strong&gt;La sindrome di Andermann: neuropatia progressiva, ritardo mentale ed agenesia del corpo calloso.&lt;/strong&gt; Riv. Ital. Ped. 13: 200-202, 1987.">Battistella et al. (1987)</a>
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<a id="references"class="mim-anchor"></a>
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<span class="mim-font">
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
<ol>
<li>
<a id="1" class="mim-anchor"></a>
<a id="Andermann1977" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Andermann, E., Andermann, F., Carpenter, S., Karpati, G., Eisen, A., Melancon, D., Bergeron, J.
<strong>Agenesis of the corpus callosum with sensorimotor neuronopathy: a new autosomal recessive malformation syndrome with high frequency in Charlevoix County, Quebec. (Abstract)</strong>
Vth International Conference on Birth Defects, Montreal, August 1977.
</p>
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<a id="2" class="mim-anchor"></a>
<a id="Andermann1972" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Andermann, F., Andermann, E., Joubert, M., Karpati, G., Carpenter, S., Melancon, D.
<strong>Familial agenesis of the corpus callosum with anterior horn cell disease: a syndrome of mental retardation, areflexia, and paraplegia.</strong>
Trans. Am. Neurol. Assoc. 97: 242-244, 1972.
</p>
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<a id="3" class="mim-anchor"></a>
<a id="Battistella1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Battistella, P. A., Drigo, P., Laverda, A. M., Casara, G. L., De Martin, P. G., Condini, A.
<strong>La sindrome di Andermann: neuropatia progressiva, ritardo mentale ed agenesia del corpo calloso.</strong>
Riv. Ital. Ped. 13: 200-202, 1987.
</p>
</div>
</li>
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<a id="4" class="mim-anchor"></a>
<a id="Cao1977" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Cao, A., Cianchetti, C., Signorini, E., Loi, M., Sanna, G., De Virgiliis, S.
<strong>Agenesis of the corpus callosum, infantile spasms, spastic quadriplegia, microcephaly and mental retardation in three siblings.</strong>
Clin. Genet. 12: 290-296, 1977.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/589850/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">589850</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=589850" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1977.tb00943.x" target="_blank">Full Text</a>]
</p>
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<a id="5" class="mim-anchor"></a>
<a id="Casaubon1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Casaubon, L. K., Melanson, M., Lopes-Cendes, I., Marineau, C., Andermann, E., Andermann, F., Weissenbach, J., Prevost, C., Bouchard, J.-P., Mathieu, J., Rouleau, G. A.
<strong>The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q.</strong>
Am. J. Hum. Genet. 58: 28-34, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8554065/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8554065</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8554065" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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</li>
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<a id="6" class="mim-anchor"></a>
<a id="Castro Gago1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Castro Gago, M., Rodriguez, E., Ugarte, J., Diaz Cardama, I., Alonso, A., Pena, J.
<strong>Agenesia hereditaria del cuerpo calloso: una nueva forma.</strong>
Rev. Esp. Pediat. 38: 349-353, 1982.
</p>
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</li>
<li>
<a id="7" class="mim-anchor"></a>
<a id="De Braekeleer1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
De Braekeleer, M., Dallaire, A., Mathieu, J.
<strong>Genetic epidemiology of sensorimotor polyneuropathy with or without agenesis of the corpus callosum in northeastern Quebec.</strong>
Hum. Genet. 91: 223-227, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8386695/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8386695</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8386695" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00218260" target="_blank">Full Text</a>]
</p>
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<a id="8" class="mim-anchor"></a>
<a id="Dobyns1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Dobyns, W. B.
<strong>Absence makes the search grow longer. (Editorial)</strong>
Am. J. Hum. Genet. 58: 7-16, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8554070/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8554070</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8554070" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="9" class="mim-anchor"></a>
<a id="Dupre2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Dupre, N., Howard, H. C., Mathieu, J., Karpati, G., Vanasse, M., Bouchard, J.-P., Carpenter, S., Rouleau, G. A.
<strong>Hereditary motor and sensory neuropathy with agenesis of the corpus callosum.</strong>
Ann. Neurol. 54: 9-18, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12838516/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12838516</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12838516" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ana.77777" target="_blank">Full Text</a>]
</p>
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<a id="10" class="mim-anchor"></a>
<a id="Hauser1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hauser, E., Bittner, R., Liegl, C., Bernert, G., Zeitlhofer, J.
<strong>Occurrence of Andermann syndrome out of French Canada: agenesis of the corpus callosum with neuronopathy.</strong>
Neuropediatrics 24: 107-110, 1993. Note: Erratum: Neuropediatrics 24: 239 only, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8292134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8292134</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8292134" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1055/s-2008-1071524" target="_blank">Full Text</a>]
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<a id="11" class="mim-anchor"></a>
<a id="Howard2002" class="mim-anchor"></a>
<div class="">
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Howard, H. C., Dube, M.-P., Prevost, C., Bouchard, J.-P., Mathieu, J., Rouleau, G. A.
<strong>Fine mapping the candidate region for peripheral neuropathy with or without agenesis of the corpus callosum in the French Canadian population.</strong>
Europ. J. Hum. Genet. 10: 406-412, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12107814/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12107814</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12107814" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/sj.ejhg.5200815" target="_blank">Full Text</a>]
</p>
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<a id="12" class="mim-anchor"></a>
<a id="Howard2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Howard, H. C., Mount, D. B., Rochefort, D., Byun, N., Dupre, N., Lu, J., Fan, X., Song, L., Riviere, J.-B., Prevost, C., Horst, J., Simonati, A., and 12 others.
<strong>The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.</strong>
Nature Genet. 32: 384-392, 2002. Note: Erratum: Nature Genet. 32: 681 only, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12368912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12368912</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12368912" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng1002" target="_blank">Full Text</a>]
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<a id="13" class="mim-anchor"></a>
<a id="Larbrisseau1984" class="mim-anchor"></a>
<div class="">
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Larbrisseau, A., Vanasse, M., Brochu, P., Jasmin, G.
<strong>The Andermann syndrome: agenesis of the corpus callosum associated with mental retardation and progressive sensorimotor neuronopathy.</strong>
Canad. J. Neurol. Sci. 11: 257-261, 1984.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6329500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6329500</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6329500" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1017/s0317167100045509" target="_blank">Full Text</a>]
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<a id="14" class="mim-anchor"></a>
<a id="Naiman1955" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Naiman, J. L., Fraser, F. C.
<strong>Agenesis of the corpus callosum: a report of two cases in siblings.</strong>
Arch. Neurol. Psychiat. 74: 182-185, 1955.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14397896/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14397896</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14397896" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archneurpsyc.1955.02330140066013" target="_blank">Full Text</a>]
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<a id="15" class="mim-anchor"></a>
<a id="Salin-Cantegrel2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Salin-Cantegrel, A., Riviere, J.-B., Dupre, N., Charron, F. M., Shekarabi, M., Karemera, L., Gaspar, C., Horst, J., Tekin, M., Deda, G., Krause, A., Lippert, M. M., Willemsen, M. A. A. P., Jarrer, R., Lapointe, J.-Y., Rouleau, G. A.
<strong>Distal truncation of KCC3 in non-French Canadian HMSN/ACC families.</strong>
Neurology 69: 1350-1355, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17893295/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17893295</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17893295" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/01.wnl.0000291779.35643.15" target="_blank">Full Text</a>]
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<a id="16" class="mim-anchor"></a>
<a id="Shapira1973" class="mim-anchor"></a>
<div class="">
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Shapira, Y., Cohen, T.
<strong>Agenesis of the corpus callosum in two sisters.</strong>
J. Med. Genet. 10: 266-269, 1973.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4204338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4204338</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4204338" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.10.3.266" target="_blank">Full Text</a>]
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<a id="17" class="mim-anchor"></a>
<a id="Uyanik2006" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Uyanik, G., Elcioglu, N., Penzien, J., Gross, C., Yilmaz, Y., Olmez, A., Demir, E., Wahl, D., Scheglmann, K., Winner, B., Bogdahn, U., Topaloglu, H., Hehr, U., Winkler, J.
<strong>Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome.</strong>
Neurology 66: 1044-1048, 2006. Note: Erratum: Neurology 67: 1528 only, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16606917/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16606917</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16606917" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1212/01.wnl.0000204181.31175.8b" target="_blank">Full Text</a>]
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<a id="18" class="mim-anchor"></a>
<a id="Ziegler1958" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ziegler, E.
<strong>Boesartige familiaere fruehinfantile Krampfkrankheit, teilweise verbunden mit familiaerer Balkenaplasie.</strong>
Helv. Paediat. Acta 13: 169-184, 1958.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13548803/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13548803</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13548803" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="contributors" class="mim-anchor"></a>
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Cassandra L. Kniffin - updated : 3/31/2008
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Cassandra L. Kniffin - updated : 7/25/2007<br>Cassandra L. Kniffin - updated : 8/14/2003<br>Michael B. Petersen - updated : 2/12/2003<br>Victor A. McKusick - updated : 10/4/2002
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Victor A. McKusick : 6/3/1986
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alopez : 01/08/2024
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<h3>
<span class="mim-font">
<strong>#</strong> 218000
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<span class="mim-font">
AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY; ACCPN
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
CHARLEVOIX DISEASE<br />
ANDERMANN SYNDROME<br />
POLYNEUROPATHY, SENSORIMOTOR, WITH OR WITHOUT AGENESIS OF THE CORPUS CALLOSUM<br />
CORPUS CALLOSUM, AGENESIS OF, WITH NEURONOPATHY
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<strong>SNOMEDCT:</strong> 702439002; &nbsp;
<strong>ORPHA:</strong> 1496; &nbsp;
<strong>DO:</strong> 0090003; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
15q14
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Agenesis of the corpus callosum with peripheral neuropathy
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218000
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Autosomal recessive
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3
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SLC12A6
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604878
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because autosomal recessive agenesis of the corpus callosum with peripheral neuropathy (ACCPN), also known as Andermann syndrome, is caused by homozygous or compound heterozygous mutation in the SLC12A6 gene (604878) on chromosome 15q14.</p>
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<strong>Description</strong>
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<p>Andermann syndrome is an autosomal recessive motor and sensory neuropathy with agenesis of the corpus callosum associated with developmental and neurodegenerative defects and dysmorphic features. It has a high prevalence in the French Canadian population in the Charlevoix and Saguenay-Lac-Saint-Jean region of Quebec (Uyanik et al., 2006). </p><p>Dupre et al. (2003) provided a comprehensive review of the disorder. Dobyns (1996) reviewed the many genetic causes of agenesis of the corpus callosum. </p>
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<strong>Clinical Features</strong>
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<p>Naiman and Fraser (1955) described 2 sisters, and Ziegler (1958) described 2 brothers with agenesis of the corpus callosum associated with mental and physical retardation. Andermann et al. (1972) observed 2 brothers with mental retardation, areflexia and paraparesis. The authors postulated an anterior horn cell disease. The clinical picture was the same as in the sisters reported by Naiman and Fraser (1955) and the 2 families were French Canadian from the Charlevoix County in Quebec. Andermann et al. (1977) extended these studies to identify 45 patients in 24 sibships, descendants from a couple married in Quebec City, Charlevoix County, in 1657. Brain CT imaging demonstrated agenesis of the corpus callosum. </p><p>Cao et al. (1977) reported 3 sibs, a male and 2 females, with severe mental retardation, spastic quadriplegia, microcephaly, and infantile spasms. Two sibs had agenesis of the corpus callosum on pneumoencephalogram. Other reports of familial agenesis of the corpus callosum consistent with autosomal recessive inheritance were published by Shapira and Cohen (1973) and Castro Gago et al. (1982). The former report concerned 2 affected sisters whose parents were more closely related than first cousins. The latter report concerned 2 sisters and 2 daughters of a paternal uncle of their father. The 2 sisters, studied at 6 years and 15 months of age, respectively, had progressive psychomotor regression, microcephaly, optic atrophy and seizures. CT scan showed absence of the corpus callosum, subcortical atrophy and gray substance heterotopy at the level of the ventricles. </p><p>Larbrisseau et al. (1984) studied 15 cases and described a characteristic dysmorphic facies. The authors observed that progressive motor neuropathy led to loss of ambulation by adolescence and progressive scoliosis. Hauser et al. (1993) reported cases of agenesis of the corpus callosum with neuronopathy in a brother and sister in Vienna. </p><p>Uyanik et al. (2006) reported 3 unrelated patients with Andermann syndrome; 1 was German and 2 Turkish. The German child presented at age 13 days with feeding difficulties and hypotonia. Over the next few months, she was found to have complete absence of the corpus callosum with ventricular enlargement and areflexia with an axonal and demyelinating peripheral neuropathy. Lumbar puncture showed increased CSF protein. At age 3 years, she had marked psychomotor retardation with inability to walk or speak. Mild facial dysmorphism was present, including hypertelorism, short nose, broad nasal root, and downplaced first toe and thumb. The second child, born of consanguineous Turkish parents, presented with diffuse hypotonic weakness, psychomotor retardation, and afebrile seizures. She had mild mental retardation, high-arched palate, elongated facies, esotropia of the right eye, ptosis, facial diplegia, areflexia, and distal wasting of the limbs. She had complete ACC and an axonal/demyelinating motor and sensory neuropathy with decreased nerve conduction velocities. The third child, born of second-degree Turkish cousins, had hypotonia and psychomotor retardation. He could walk with support at age 5 years and developed some speech. He had complete ACC and peripheral neuropathy but was less severely affected in the upper limbs. He also had bilateral diffuse white matter abnormalities, which had not previously been reported in this syndrome. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of ACCPN in the families reported by Howard et al. (2002) was consistent with autosomal recessive inheritance. </p>
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<strong>Mapping</strong>
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<p>Casaubon et al. (1996) performed linkage studies with 120 microsatellite DNA markers to position the ACCPN gene to a 5-cM region on 15q13-q15, flanked by markers D15S1040 and D15S118. A maximum 2-point lod score of 11.1 was obtained with the markers D15S971 at a recombination fraction of 0.0. Haplotype analysis and linkage disequilibrium supported the existence of the previously suspected founder effect. The authors stated that this finding was the first step in the identification of the gene responsible for ACCPN, which may shed light on numerous conditions associated with progressive peripheral neuropathy or agenesis of the corpus callosum. </p><p>Howard et al. (2002) typed 11 polymorphic markers on chromosome 15 in 231 individuals from 50 seemingly unrelated French Canadian ACCPN families. Haplotype analysis confirmed the presence of a founder haplotype, and recombination events reduced the ACCPN candidate interval to a region of approximately 2 cM or 1000 kb between markers D15S1040 and ACTC. </p>
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<span class="mim-font">
<strong>Molecular Genetics</strong>
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<p>The K-Cl cotransporter KCC3, encoded by the SLC12A6 gene, maps within the ACCPN candidate region, prompting Howard et al. (2002) to screen that gene for mutations in individuals with ACCPN. Four distinct protein-truncated mutations (604878.0001-604878.0004) were found: 2 in the French Canadian population and 2 in non-French Canadian families. A 1-bp deletion (2436delG; 604878.0001) was determined to be a founder mutation in the French Canadian population. </p><p>In 3 unrelated patients with Andermann syndrome, Uyanik et al. (2006) identified 4 different mutations in the SLC12A6 gene (604878.0005-604878.0008). Two were of Turkish descent, and 1 was German. </p><p>Salin-Cantegrel et al. (2007) identified 2 mutations in exon 22 of the SLC12A6 gene (604878.0003; 604878.0009) in non-French Canadian patients with ACCPN, including families from Turkey, South Africa, Sudan, and the Netherlands. </p>
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<h4>
<span class="mim-font">
<strong>Population Genetics</strong>
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<p>De Braekeleer et al. (1993) estimated that in the Saguenay-Lac-Saint-Jean region of northeastern Quebec the incidence at birth was 1 in 2,117 liveborns, and the carrier rate was 1 in 23 inhabitants. Remote consanguinity was found in several families, while the mean kinship coefficient was 2.7 times higher in the polyneuropathic group than in control groups. Genealogic reconstruction suggested that the high incidence is probably the result of founder effect and that a unique mutation accounts for most, if not all, of the cases known in this region. </p><p>Howard et al. (2002) determined that a 1-bp deletion (2436delG) was a founder mutation in the French Canadian population. </p>
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<h4>
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<strong>Animal Model</strong>
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</div>
<span class="mim-text-font">
<p>Howard et al. (2002) found that mice with a targeted deletion of the Slc12a6 gene had a locomotor deficit, peripheral neuropathy, and a sensorimotor gating deficit, similar to the human disease. The findings suggested a critical role for SLC12A6 in the development and maintenance of the nervous system. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Battistella et al. (1987)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Andermann, E., Andermann, F., Carpenter, S., Karpati, G., Eisen, A., Melancon, D., Bergeron, J.
<strong>Agenesis of the corpus callosum with sensorimotor neuronopathy: a new autosomal recessive malformation syndrome with high frequency in Charlevoix County, Quebec. (Abstract)</strong>
Vth International Conference on Birth Defects, Montreal, August 1977.
</p>
</li>
<li>
<p class="mim-text-font">
Andermann, F., Andermann, E., Joubert, M., Karpati, G., Carpenter, S., Melancon, D.
<strong>Familial agenesis of the corpus callosum with anterior horn cell disease: a syndrome of mental retardation, areflexia, and paraplegia.</strong>
Trans. Am. Neurol. Assoc. 97: 242-244, 1972.
</p>
</li>
<li>
<p class="mim-text-font">
Battistella, P. A., Drigo, P., Laverda, A. M., Casara, G. L., De Martin, P. G., Condini, A.
<strong>La sindrome di Andermann: neuropatia progressiva, ritardo mentale ed agenesia del corpo calloso.</strong>
Riv. Ital. Ped. 13: 200-202, 1987.
</p>
</li>
<li>
<p class="mim-text-font">
Cao, A., Cianchetti, C., Signorini, E., Loi, M., Sanna, G., De Virgiliis, S.
<strong>Agenesis of the corpus callosum, infantile spasms, spastic quadriplegia, microcephaly and mental retardation in three siblings.</strong>
Clin. Genet. 12: 290-296, 1977.
[PubMed: 589850]
[Full Text: https://doi.org/10.1111/j.1399-0004.1977.tb00943.x]
</p>
</li>
<li>
<p class="mim-text-font">
Casaubon, L. K., Melanson, M., Lopes-Cendes, I., Marineau, C., Andermann, E., Andermann, F., Weissenbach, J., Prevost, C., Bouchard, J.-P., Mathieu, J., Rouleau, G. A.
<strong>The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q.</strong>
Am. J. Hum. Genet. 58: 28-34, 1996.
[PubMed: 8554065]
</p>
</li>
<li>
<p class="mim-text-font">
Castro Gago, M., Rodriguez, E., Ugarte, J., Diaz Cardama, I., Alonso, A., Pena, J.
<strong>Agenesia hereditaria del cuerpo calloso: una nueva forma.</strong>
Rev. Esp. Pediat. 38: 349-353, 1982.
</p>
</li>
<li>
<p class="mim-text-font">
De Braekeleer, M., Dallaire, A., Mathieu, J.
<strong>Genetic epidemiology of sensorimotor polyneuropathy with or without agenesis of the corpus callosum in northeastern Quebec.</strong>
Hum. Genet. 91: 223-227, 1993.
[PubMed: 8386695]
[Full Text: https://doi.org/10.1007/BF00218260]
</p>
</li>
<li>
<p class="mim-text-font">
Dobyns, W. B.
<strong>Absence makes the search grow longer. (Editorial)</strong>
Am. J. Hum. Genet. 58: 7-16, 1996.
[PubMed: 8554070]
</p>
</li>
<li>
<p class="mim-text-font">
Dupre, N., Howard, H. C., Mathieu, J., Karpati, G., Vanasse, M., Bouchard, J.-P., Carpenter, S., Rouleau, G. A.
<strong>Hereditary motor and sensory neuropathy with agenesis of the corpus callosum.</strong>
Ann. Neurol. 54: 9-18, 2003.
[PubMed: 12838516]
[Full Text: https://doi.org/10.1002/ana.77777]
</p>
</li>
<li>
<p class="mim-text-font">
Hauser, E., Bittner, R., Liegl, C., Bernert, G., Zeitlhofer, J.
<strong>Occurrence of Andermann syndrome out of French Canada: agenesis of the corpus callosum with neuronopathy.</strong>
Neuropediatrics 24: 107-110, 1993. Note: Erratum: Neuropediatrics 24: 239 only, 1993.
[PubMed: 8292134]
[Full Text: https://doi.org/10.1055/s-2008-1071524]
</p>
</li>
<li>
<p class="mim-text-font">
Howard, H. C., Dube, M.-P., Prevost, C., Bouchard, J.-P., Mathieu, J., Rouleau, G. A.
<strong>Fine mapping the candidate region for peripheral neuropathy with or without agenesis of the corpus callosum in the French Canadian population.</strong>
Europ. J. Hum. Genet. 10: 406-412, 2002.
[PubMed: 12107814]
[Full Text: https://doi.org/10.1038/sj.ejhg.5200815]
</p>
</li>
<li>
<p class="mim-text-font">
Howard, H. C., Mount, D. B., Rochefort, D., Byun, N., Dupre, N., Lu, J., Fan, X., Song, L., Riviere, J.-B., Prevost, C., Horst, J., Simonati, A., and 12 others.
<strong>The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum.</strong>
Nature Genet. 32: 384-392, 2002. Note: Erratum: Nature Genet. 32: 681 only, 2002.
[PubMed: 12368912]
[Full Text: https://doi.org/10.1038/ng1002]
</p>
</li>
<li>
<p class="mim-text-font">
Larbrisseau, A., Vanasse, M., Brochu, P., Jasmin, G.
<strong>The Andermann syndrome: agenesis of the corpus callosum associated with mental retardation and progressive sensorimotor neuronopathy.</strong>
Canad. J. Neurol. Sci. 11: 257-261, 1984.
[PubMed: 6329500]
[Full Text: https://doi.org/10.1017/s0317167100045509]
</p>
</li>
<li>
<p class="mim-text-font">
Naiman, J. L., Fraser, F. C.
<strong>Agenesis of the corpus callosum: a report of two cases in siblings.</strong>
Arch. Neurol. Psychiat. 74: 182-185, 1955.
[PubMed: 14397896]
[Full Text: https://doi.org/10.1001/archneurpsyc.1955.02330140066013]
</p>
</li>
<li>
<p class="mim-text-font">
Salin-Cantegrel, A., Riviere, J.-B., Dupre, N., Charron, F. M., Shekarabi, M., Karemera, L., Gaspar, C., Horst, J., Tekin, M., Deda, G., Krause, A., Lippert, M. M., Willemsen, M. A. A. P., Jarrer, R., Lapointe, J.-Y., Rouleau, G. A.
<strong>Distal truncation of KCC3 in non-French Canadian HMSN/ACC families.</strong>
Neurology 69: 1350-1355, 2007.
[PubMed: 17893295]
[Full Text: https://doi.org/10.1212/01.wnl.0000291779.35643.15]
</p>
</li>
<li>
<p class="mim-text-font">
Shapira, Y., Cohen, T.
<strong>Agenesis of the corpus callosum in two sisters.</strong>
J. Med. Genet. 10: 266-269, 1973.
[PubMed: 4204338]
[Full Text: https://doi.org/10.1136/jmg.10.3.266]
</p>
</li>
<li>
<p class="mim-text-font">
Uyanik, G., Elcioglu, N., Penzien, J., Gross, C., Yilmaz, Y., Olmez, A., Demir, E., Wahl, D., Scheglmann, K., Winner, B., Bogdahn, U., Topaloglu, H., Hehr, U., Winkler, J.
<strong>Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome.</strong>
Neurology 66: 1044-1048, 2006. Note: Erratum: Neurology 67: 1528 only, 2006.
[PubMed: 16606917]
[Full Text: https://doi.org/10.1212/01.wnl.0000204181.31175.8b]
</p>
</li>
<li>
<p class="mim-text-font">
Ziegler, E.
<strong>Boesartige familiaere fruehinfantile Krampfkrankheit, teilweise verbunden mit familiaerer Balkenaplasie.</strong>
Helv. Paediat. Acta 13: 169-184, 1958.
[PubMed: 13548803]
</p>
</li>
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Cassandra L. Kniffin - updated : 3/31/2008<br>Cassandra L. Kniffin - updated : 7/25/2007<br>Cassandra L. Kniffin - updated : 8/14/2003<br>Michael B. Petersen - updated : 2/12/2003<br>Victor A. McKusick - updated : 10/4/2002
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Victor A. McKusick : 6/3/1986
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