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<title>
Entry
- #619742 - CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I
- OMIM
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<span class="h4">#619742</span>
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/619742"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS118220"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
<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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<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation">
<a href="#references"><strong>References</strong></a>
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<li role="presentation">
<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE) OR (POLR3B)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=619742[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
619742
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<h3>
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CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I
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<em>Alternative titles; symbols</em>
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<h4>
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CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1I
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<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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<td>
<span class="mim-font">
<a href="/geneMap/12/757?start=-3&limit=10&highlight=757">
12q23.3
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<td>
<span class="mim-font">
Charcot-Marie-Tooth disease, demyelinating, type 1I
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<td>
<span class="mim-font">
<a href="/entry/619742"> 619742 </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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POLR3B
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<a href="/entry/614366"> 614366 </a>
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<a href="/clinicalSynopsis/619742" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<a href="/phenotypicSeries/PS118220" class="btn btn-info" role="button"> Phenotypic Series </a>
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PheneGene Graphics <span class="caret"></span>
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<li><a href="/graph/linear/619742" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/619742" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div 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 dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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<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">
- Small head circumference (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271611007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271611007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551563</a>, <a href="https://bioportal.bioontology.org/search?q=C0424688&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424688</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0040195" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0040195</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span><br />
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<div>
<span class="h5 mim-font">
<em> Mouth </em>
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<div style="margin-left: 2em;">
<span class="mim-font">
- Oromotor dyspraxia (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3552242&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3552242</a>]</span><br />
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<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
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<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Gastrointestinal </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Dysphagia (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/288939007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">288939007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40739000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40739000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R13.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R13.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R13.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R13.10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/787.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/787.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">787.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011168&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011168</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002015</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002015" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002015</a>]</span><br />
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<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
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<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
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<div style="margin-left: 2em;">
<span class="mim-font">
- Claw hands <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299034005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299034005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5550991&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5550991</a>]</span><br />
</span>
</div>
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<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
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<div style="margin-left: 2em;">
<span class="mim-font">
- Pes cavus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205091006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205091006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/36755004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">36755004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86900005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86900005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.73" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.73</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/754.71" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.71</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0728829&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0728829</a>, <a href="https://bioportal.bioontology.org/search?q=C0039273&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039273</a>, <a href="https://bioportal.bioontology.org/search?q=C2239098&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2239098</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001761" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001761</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Pes_Cavus-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=2ad12e53b20f47e5685234fa29da6610&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>
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<div>
<div>
<span class="h5 mim-font">
<strong> MUSCLE, SOFT TISSUES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Distal limb muscle weakness due to peripheral neuropathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1864696&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1864696</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002460" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002460</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002460" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002460</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249942005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249942005</a>]</span><br /> -
Distal limb atrophy due to peripheral neuropathy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5678312&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5678312</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">
- Central nervous system involvement (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4050309&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4050309</a>]</span><br /> -
Delayed motor development <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 /> -
Delayed walking <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241726&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241726</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031936" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031936</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0031936" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0031936</a>]</span><br /> -
Ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20262006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20262006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39384006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39384006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/85102008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">85102008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R27.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R27.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.84" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.84</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0004134&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0004134</a>, <a href="https://bioportal.bioontology.org/search?q=C1135207&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1135207</a>, <a href="https://bioportal.bioontology.org/search?q=C0007758&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007758</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0010867" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010867</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001251</a>]</span><br /> -
Unsteady gait <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22631008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22631008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0231686&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0231686</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002317" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002317</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002317" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002317</a>]</span><br /> -
Wide-based gait <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0856863&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0856863</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002136" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002136</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002136" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002136</a>]</span><br /> -
Frequent falls <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0850703&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0850703</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002359" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002359</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002359" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002359</a>]</span><br /> -
Foot drop <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/6077001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">6077001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/735601009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">735601009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.37" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.37</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2894499&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2894499</a>, <a href="https://bioportal.bioontology.org/search?q=C0085684&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085684</a>, <a href="https://bioportal.bioontology.org/search?q=C1866141&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866141</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009027</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009027" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009027</a>]</span><br /> -
Steppage gait <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27253007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27253007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0427149&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0427149</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003376" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003376</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003376" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003376</a>]</span><br /> -
Global developmental delay (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <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">[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> 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 /> -
Impaired intellectual development (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4747273&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4747273</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 /> -
Speech delay <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/229721007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">229721007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241210&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241210</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000750</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000750</a>]</span><br /> -
Dysarthria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8011004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8011004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/438.13" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">438.13</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/784.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">784.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001260</a>]</span><br /> -
Spasticity (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/221360009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">221360009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397790002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397790002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026838&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026838</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001257</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001257</a>]</span><br /> -
Ankle clonus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39055007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39055007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0238651&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0238651</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011448" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011448</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011448" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011448</a>]</span><br /> -
Hyperreflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86854008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86854008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151889&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151889</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001347</a>]</span><br /> -
Extensor plantar responses <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246586009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246586009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/366575004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">366575004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034935&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034935</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003487" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003487</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003487" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003487</a>]</span><br /> -
Dysmetria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32566006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32566006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234162&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234162</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001310" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001310</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001310" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001310</a>]</span><br /> -
Tremor <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26079004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26079004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R25.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R25.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040822&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040822</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001337</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001337</a>]</span><br /> -
Dystonic posturing <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249847000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249847000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426961&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426961</a>]</span><br /> -
Pyramidal signs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14648003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14648003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0234132&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0234132</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007256</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007256</a>]</span><br /> -
Seizures, variable types (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4314178&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4314178</a>]</span> <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">[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 /> -
Brain imaging abnormalities, nonspecific <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4746954&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4746954</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/442731005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">442731005</a>]</span><br /> -
Cerebellar atrophy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0740279&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0740279</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001272" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001272</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001272" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001272</a>]</span><br /> -
Delayed myelination <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/135810007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">135810007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1277241&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1277241</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012448" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012448</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012448" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012448</a>]</span><br /> -
White matter abnormalities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0948163&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0948163</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002500" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002500</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002500" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002500</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">
- Demyelinating sensorimotor peripheral neuropathy (in most patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4015438&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4015438</a>]</span><br /> -
Slowed nerve conduction velocities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857640&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857640</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000762</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000762</a>]</span><br /> -
Axonal sensorimotor peripheral neuropathy with secondary demyelination (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5678311&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5678311</a>]</span><br /> -
Distal sensory impairment <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1847584&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1847584</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002936" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002936</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002936" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002936</a>]</span><br /> -
Hyporeflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/835279003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">835279003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405946002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405946002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0700078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700078</a>, <a href="https://bioportal.bioontology.org/search?q=C0151888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151888</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001265</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001315" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001315</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001265" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001265</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 /> -
Sural nerve biopsy shows loss of myelinated fibers <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837523&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837523</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">
- ADHD <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7461003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7461003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/406506008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">406506008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F90</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/F90.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F90.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/314.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">314.01</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/314" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">314</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/314.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">314.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1263846&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1263846</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000752" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000752</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0007018" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007018</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007018" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007018</a>]</span><br /> -
Impulsivity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0021125&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0021125</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100710" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100710</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100710" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100710</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Onset in early childhood<br /> -
Variable phenotype <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003812" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003812</a>]</span><br /> -
Progressive disorder initially lower limb involvement later involving upper limbs<br /> -
Some patients have pure peripheral neuropathy without central nervous system involvement<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the polymerase III, RNA, subunit B gene (POLR3B, <a href="/entry/614366#0009">614366.0009</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
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<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Charcot-Marie-Tooth disease
- <a href="/phenotypicSeries/PS118220">PS118220</a>
- 82 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/100?start=-3&limit=10&highlight=100"> 1p36.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615376"> Charcot-Marie-Tooth disease, recessive intermediate C </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615376"> 615376 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611101"> PLEKHG5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611101"> 611101 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/135?start=-3&limit=10&highlight=135"> 1p36.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118210"> Charcot-Marie-Tooth disease, type 2A1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118210"> 118210 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605995"> KIF1B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605995"> 605995 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/163?start=-3&limit=10&highlight=163"> 1p36.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601152"> Hereditary motor and sensory neuropathy VIA </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601152"> 601152 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608507"> MFN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608507"> 608507 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/163?start=-3&limit=10&highlight=163"> 1p36.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617087"> Charcot-Marie-Tooth disease, axonal, type 2A2B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617087"> 617087 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608507"> MFN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608507"> 608507 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/163?start=-3&limit=10&highlight=163"> 1p36.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609260"> Charcot-Marie-Tooth disease, axonal, type 2A2A </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609260"> 609260 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608507"> MFN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608507"> 608507 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/406?start=-3&limit=10&highlight=406"> 1p35.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608323"> Charcot-Marie-Tooth disease, dominant intermediate C </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608323"> 608323 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603623"> YARS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603623"> 603623 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/954?start=-3&limit=10&highlight=954"> 1p13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618036"> Charcot-Marie-Tooth disease, axonal, type 2DD </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618036"> 618036 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/182310"> ATP1A1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/182310"> 182310 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1240?start=-3&limit=10&highlight=1240"> 1q22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605588"> Charcot-Marie-Tooth disease, type 2B1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605588"> 605588 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/150330"> LMNA </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/150330"> 150330 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1292?start=-3&limit=10&highlight=1292"> 1q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619519"> Charcot-Marie-Tooth disease, axonal, type 2FF </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619519"> 619519 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609743"> CADM3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609743"> 609743 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1348?start=-3&limit=10&highlight=1348"> 1q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607736"> Charcot-Marie-Tooth disease, type 2J </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607736"> 607736 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> MPZ </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> 159440 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1348?start=-3&limit=10&highlight=1348"> 1q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/145900"> Dejerine-Sottas disease </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/145900"> 145900 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> MPZ </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> 159440 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1348?start=-3&limit=10&highlight=1348"> 1q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607677"> Charcot-Marie-Tooth disease, type 2I </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607677"> 607677 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> MPZ </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> 159440 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1348?start=-3&limit=10&highlight=1348"> 1q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118200"> Charcot-Marie-Tooth disease, type 1B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118200"> 118200 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> MPZ </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> 159440 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/1/1348?start=-3&limit=10&highlight=1348"> 1q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607791"> Charcot-Marie-Tooth disease, dominant intermediate D </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607791"> 607791 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> MPZ </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/159440"> 159440 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/131?start=-3&limit=10&highlight=131"> 2p23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618400"> Charcot-Marie-Tooth disease, axonal, type 2EE </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618400"> 618400 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137960"> MPV17 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/137960"> 137960 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/654?start=-3&limit=10&highlight=654"> 3q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600882"> Charcot-Marie-Tooth disease, type 2B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600882"> 600882 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602298"> RAB7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602298"> 602298 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/798?start=-3&limit=10&highlight=798"> 3q25.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617017"> Charcot-Marie-Tooth disease, axonal, type 2T </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617017"> 617017 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120520"> MME </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/120520"> 120520 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/880?start=-3&limit=10&highlight=880"> 3q26.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615185"> Charcot-Marie-Tooth disease, dominant intermediate F </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615185"> 615185 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610863"> GNB4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610863"> 610863 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/611?start=-3&limit=10&highlight=611"> 4q31.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615490"> Charcot-Marie-Tooth disease, type 2R </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615490"> 615490 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614141"> TRIM2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614141"> 614141 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/544?start=-3&limit=10&highlight=544"> 5q31.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616625"> Charcot-Marie-Tooth disease, axonal, type 2W </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616625"> 616625 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/142810"> HARS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/142810"> 142810 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/646?start=-3&limit=10&highlight=646"> 5q32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601596"> Charcot-Marie-Tooth disease, type 4C </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601596"> 601596 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608206"> SH3TC2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608206"> 608206 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/405?start=-3&limit=10&highlight=405"> 6p21.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620111"> Charcot-Marie-Tooth disease, demyelinating, type 1J </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620111"> 620111 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147267"> ITPR3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/147267"> 147267 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/769?start=-3&limit=10&highlight=769"> 6q21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611228"> Charcot-Marie-Tooth disease, type 4J </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611228"> 611228 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609390"> FIG4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609390"> 609390 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/165?start=-3&limit=10&highlight=165"> 7p14.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601472"> Charcot-Marie-Tooth disease, type 2D </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601472"> 601472 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600287"> GARS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600287"> 600287 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/355?start=-3&limit=10&highlight=355"> 7q11.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606595"> Charcot-Marie-Tooth disease, axonal, type 2F </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606595"> 606595 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602195"> HSPB1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602195"> 602195 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/137?start=-3&limit=10&highlight=137"> 8p21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607684"> Charcot-Marie-Tooth disease, type 2E </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607684"> 607684 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/162280"> NEFL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/162280"> 162280 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/137?start=-3&limit=10&highlight=137"> 8p21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607734"> Charcot-Marie-Tooth disease, type 1F </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607734"> 607734 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/162280"> NEFL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/162280"> 162280 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/137?start=-3&limit=10&highlight=137"> 8p21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617882"> Charcot-Marie-Tooth disease, dominant intermediate G </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617882"> 617882 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/162280"> NEFL </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/162280"> 162280 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/304?start=-3&limit=10&highlight=304"> 8q13-q23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607731"> Charcot-Marie-Tooth disease, axonal, type 2H </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607731"> 607731 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607731"> CMT2H </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607731"> 607731 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/350?start=-3&limit=10&highlight=350"> 8q21.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607831"> {?Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K, modifier of} </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607831"> 607831 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605266"> JPH1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605266"> 605266 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/351?start=-3&limit=10&highlight=351"> 8q21.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607706"> Charcot-Marie-Tooth disease, axonal, with vocal cord paresis </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607706"> 607706 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606598"> GDAP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606598"> 606598 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/351?start=-3&limit=10&highlight=351"> 8q21.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607831"> Charcot-Marie-Tooth disease, axonal, type 2K </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607831"> 607831 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606598"> GDAP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606598"> 606598 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/351?start=-3&limit=10&highlight=351"> 8q21.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/214400"> Charcot-Marie-Tooth disease, type 4A </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/214400"> 214400 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606598"> GDAP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606598"> 606598 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/351?start=-3&limit=10&highlight=351"> 8q21.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608340"> Charcot-Marie-Tooth disease, recessive intermediate, A </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608340"> 608340 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606598"> GDAP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606598"> 606598 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/366?start=-3&limit=10&highlight=366"> 8q21.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618279"> Charcot-Marie-Tooth disease, demyelinating, type 1G </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618279"> 618279 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/170715"> PMP2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/170715"> 170715 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/570?start=-3&limit=10&highlight=570"> 8q24.22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601455"> Charcot-Marie-Tooth disease, type 4D </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601455"> 601455 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605262"> NDRG1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605262"> 605262 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/160?start=-3&limit=10&highlight=160"> 9p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616687"> Charcot-Marie-Tooth disease, type 2Y </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616687"> 616687 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601023"> VCP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601023"> 601023 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/512?start=-3&limit=10&highlight=512"> 9q33.3-q34.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614436"> Charcot-Marie-Tooth disease, axonal, type 2P </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614436"> 614436 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610933"> LRSAM1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610933"> 610933 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/612?start=-3&limit=10&highlight=612"> 9q34.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616684"> Charcot-Marie-Tooth disease, type 4K </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616684"> 616684 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/185620"> SURF1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/185620"> 185620 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/53?start=-3&limit=10&highlight=53"> 10p14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615025"> ?Charcot-Marie-Tooth disease, axonal, type 2Q </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615025"> 615025 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614984"> DHTKD1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614984"> 614984 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/230?start=-3&limit=10&highlight=230"> 10q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605253"> Hypomyelinating neuropathy, congenital, 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605253"> 605253 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/129010"> EGR2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/129010"> 129010 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/230?start=-3&limit=10&highlight=230"> 10q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607678"> Charcot-Marie-Tooth disease, type 1D </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607678"> 607678 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/129010"> EGR2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/129010"> 129010 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/230?start=-3&limit=10&highlight=230"> 10q21.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/145900"> Dejerine-Sottas disease </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/145900"> 145900 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/129010"> EGR2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/129010"> 129010 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/260?start=-3&limit=10&highlight=260"> 10q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605285"> Neuropathy, hereditary motor and sensory, Russe type </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605285"> 605285 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/142600"> HK1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/142600"> 142600 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/513?start=-3&limit=10&highlight=513"> 10q24.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606483"> Charcot-Marie-Tooth disease, axonal, type 2GG </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606483"> 606483 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603698"> GBF1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603698"> 603698 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/613?start=-3&limit=10&highlight=613"> 10q26.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/621095"> Charcot-Marie-Tooth disease, axonal, type 2JJ </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/621095"> 621095 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603883"> BAG3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603883"> 603883 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/171?start=-3&limit=10&highlight=171"> 11p15.4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604563"> Charcot-Marie-Tooth disease, type 4B2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604563"> 604563 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607697"> SBF2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607697"> 607697 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/690?start=-3&limit=10&highlight=690"> 11q13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616155"> Charcot-Marie-Tooth disease, axonal, type 2S </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616155"> 616155 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600502"> IGHMBP2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600502"> 600502 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/849?start=-3&limit=10&highlight=849"> 11q21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601382"> Charcot-Marie-Tooth disease, type 4B1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601382"> 601382 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603557"> MTMR2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603557"> 603557 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/278?start=-3&limit=10&highlight=278"> 12p11.21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609311"> Charcot-Marie-Tooth disease, type 4H </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609311"> 609311 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611104"> FGD4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611104"> 611104 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/542?start=-3&limit=10&highlight=542"> 12q13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616280"> Charcot-Marie-Tooth disease, axonal, type 2U </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616280"> 616280 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/156560"> MARS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/156560"> 156560 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/757?start=-3&limit=10&highlight=757"> 12q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619742"> Charcot-Marie-Tooth disease, demyelinating, type 1I </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619742"> 619742 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614366"> POLR3B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614366"> 614366 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/793?start=-3&limit=10&highlight=793"> 12q24.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606071"> Hereditary motor and sensory neuropathy, type IIc </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606071"> 606071 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605427"> TRPV4 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605427"> 605427 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/858?start=-3&limit=10&highlight=858"> 12q24.23 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608673"> Charcot-Marie-Tooth disease, axonal, type 2L </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608673"> 608673 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608014"> HSPB8 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608014"> 608014 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/873?start=-3&limit=10&highlight=873"> 12q24.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616039"> Charcot-Marie-Tooth disease, recessive intermediate D </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616039"> 616039 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602072"> COX6A1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602072"> 602072 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/464?start=-3&limit=10&highlight=464"> 14q32.12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619764"> Charcot-Marie-Tooth disease, demyelinating, type 1H </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619764"> 619764 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604580"> FBLN5 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604580"> 604580 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/559?start=-3&limit=10&highlight=559"> 14q32.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614228"> Charcot-Marie-Tooth disease, axonal, type 2O </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614228"> 614228 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600112"> DYNC1H1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600112"> 600112 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/590?start=-3&limit=10&highlight=590"> 14q32.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614455"> Charcot-Marie-Tooth disease, dominant intermediate E </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614455"> 614455 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610982"> INF2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610982"> 610982 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/71?start=-3&limit=10&highlight=71"> 15q14 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620068"> Charcot-Marie-Tooth disease, axonal, type 2II </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/620068"> 620068 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604878"> SLC12A6 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604878"> 604878 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/168?start=-3&limit=10&highlight=168"> 15q21.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616668"> Charcot-Marie-Tooth disease, axonal, type 2X </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616668"> 616668 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610844"> SPG11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610844"> 610844 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/195?start=-3&limit=10&highlight=195"> 16p13.13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601098"> Charcot-Marie-Tooth disease, type 1C </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601098"> 601098 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603795"> LITAF </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603795"> 603795 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/603?start=-3&limit=10&highlight=603"> 16q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613287"> Charcot-Marie-Tooth disease, axonal, type 2N </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613287"> 613287 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601065"> AARS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601065"> 601065 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/655?start=-3&limit=10&highlight=655"> 16q23.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613641"> ?Charcot-Marie-Tooth disease, recessive intermediate, B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613641"> 613641 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601421"> KARS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601421"> 601421 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/244?start=-3&limit=10&highlight=244"> 17p12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118300"> Charcot-Marie-Tooth disease, type 1E </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118300"> 118300 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601097"> PMP22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601097"> 601097 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/244?start=-3&limit=10&highlight=244"> 17p12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118220"> Charcot-Marie-Tooth disease, type 1A </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/118220"> 118220 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601097"> PMP22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601097"> 601097 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/244?start=-3&limit=10&highlight=244"> 17p12 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/145900"> Dejerine-Sottas disease </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/145900"> 145900 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601097"> PMP22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601097"> 601097 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/579?start=-3&limit=10&highlight=579"> 17q21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616491"> ?Charcot-Marie-Tooth disease, axonal, type 2V </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616491"> 616491 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609701"> NAGLU </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609701"> 609701 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/281?start=-3&limit=10&highlight=281"> 19p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606482"> Charcot-Marie-Tooth disease, axonal type 2M </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606482"> 606482 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602378"> DNM2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602378"> 602378 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/281?start=-3&limit=10&highlight=281"> 19p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606482"> Charcot-Marie-Tooth disease, dominant intermediate B </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/606482"> 606482 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602378"> DNM2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602378"> 602378 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/702?start=-3&limit=10&highlight=702"> 19q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614895"> Charcot-Marie-Tooth disease, type 4F </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614895"> 614895 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605725"> PRX </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605725"> 605725 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/702?start=-3&limit=10&highlight=702"> 19q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/145900"> Dejerine-Sottas disease </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/145900"> 145900 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605725"> PRX </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605725"> 605725 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/967?start=-3&limit=10&highlight=967"> 19q13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605589"> ?Charcot-Marie-Tooth disease, type 2B2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605589"> 605589 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605610"> PNKP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605610"> 605610 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/20/99?start=-3&limit=10&highlight=99"> 20p12.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619574"> Charcot-Marie-Tooth disease, axonal, type 2HH </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619574"> 619574 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601920"> JAG1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601920"> 601920 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/152?start=-3&limit=10&highlight=152"> 22q12.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616924"> Charcot-Marie-Tooth disease, axonal, type 2CC </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616924"> 616924 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/162230"> NEFH </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/162230"> 162230 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/177?start=-3&limit=10&highlight=177"> 22q12.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616688"> Charcot-Marie-Tooth disease, axonal, type 2Z </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616688"> 616688 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616661"> MORC2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616661"> 616661 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/412?start=-3&limit=10&highlight=412"> 22q13.33 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615284"> Charcot-Marie-Tooth disease, type 4B3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615284"> 615284 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603560"> SBF1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603560"> 603560 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/47?start=-3&limit=10&highlight=47"> Xp22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/302801"> Charcot-Marie-Tooth neuropathy, X-linked recessive, 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/302801"> 302801 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/302801"> CMTX2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/302801"> 302801 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/126?start=-3&limit=10&highlight=126"> Xp22.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300905"> ?Charcot-Marie-Tooth disease, X-linked dominant, 6 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300905"> 300905 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300906"> PDK3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300906"> 300906 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/406?start=-3&limit=10&highlight=406"> Xq13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/302800"> Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked dominant">XLD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/302800"> 302800 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/304040"> GJB1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/304040"> 304040 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/552?start=-3&limit=10&highlight=552"> Xq22.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/311070"> Charcot-Marie-Tooth disease, X-linked recessive, 5 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/311070"> 311070 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/311850"> PRPS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/311850"> 311850 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/662?start=-3&limit=10&highlight=662"> Xq26 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/302802"> Charcot-Marie-Tooth neuropathy, X-linked recessive, 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved"> 4 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/302802"> 302802 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/302802"> CMTX3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/302802"> 302802 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/675?start=-3&limit=10&highlight=675"> Xq26.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/310490"> Cowchock syndrome </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/310490"> 310490 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300169"> AIFM1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300169"> 300169 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
<div class="text-right small">
<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
</div>
<div>
<br />
</div>
<div>
<a id="text" class="mim-anchor"></a>
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon &lt;span class='glyphicon glyphicon-plus-sign'&gt;&lt;/span&gt at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
<strong>TEXT</strong>
</span>
</span>
</h4>
<div id="mimTextFold" class="collapse in ">
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because of evidence that demyelinating Charcot-Marie-Tooth disease type 1I (CMT1I) is caused by heterozygous mutation in the POLR3B gene (<a href="/entry/614366">614366</a>) on chromosome 12q23.</p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="description" class="mim-anchor"></a>
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
</div>
<div id="mimDescriptionFold" class="collapse in ">
<span class="mim-text-font">
<p>Demyelinating Charcot-Marie-Tooth disease type 1I (CMT1I) is a neurologic disorder characterized predominantly by delayed motor development in the first years of life associated with gait abnormalities, sensory ataxia, hyporeflexia, and distal sensory impairment due to a sensorimotor peripheral neuropathy that mainly affects the lower limbs. The disorder is progressive, and some may have upper limb involvement. A subset of patients has central nervous system involvement that manifests as global developmental delay with impaired intellectual development and speech difficulties. Other features may include spasticity, hyperreflexia, tremor, dysmetria, seizures, or cerebellar findings. Brain imaging may be normal or show nonspecific abnormalities, such as white matter signal changes and delayed myelination (summary by <a href="#1" class="mim-tip-reference" title="Djordjevic, D., Pinard, M., Gauthier, M.-S., Smith-Hicks, C., Hoffman, TL., Wolf, NI., Oegema, R., van Binsbergen, E., Baskin, B., Bernard, G., Fribourg, S., Coulombe, B., Yoon, G. &lt;strong&gt;De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.&lt;/strong&gt; Am. J. Hum. Genet. 108: 186-193, 2021. Note: Erratum: Am. J. Hum. Genet. 109: 759-763, 2022.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/33417887/&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;33417887&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=33417887[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2020.12.002&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="33417887">Djordjevic et al., 2021</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33417887" 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>For a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (<a href="/entry/118200">118200</a>).</p>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="clinicalFeatures" class="mim-anchor"></a>
<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
</div>
<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#1" class="mim-tip-reference" title="Djordjevic, D., Pinard, M., Gauthier, M.-S., Smith-Hicks, C., Hoffman, TL., Wolf, NI., Oegema, R., van Binsbergen, E., Baskin, B., Bernard, G., Fribourg, S., Coulombe, B., Yoon, G. &lt;strong&gt;De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.&lt;/strong&gt; Am. J. Hum. Genet. 108: 186-193, 2021. Note: Erratum: Am. J. Hum. Genet. 109: 759-763, 2022.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/33417887/&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;33417887&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=33417887[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2020.12.002&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="33417887">Djordjevic et al. (2021)</a> reported 6 unrelated patients, ranging from 4 to 22 years of age, with a complex neurologic disorder. They presented in the first years of life with motor delay and walking between 18 months and 3.5 years of age. Walking was impaired by wide-based gait, awkward in-toed gait, or ataxia. Five patients had impaired intellectual development with speech delay and dysarthria. IQ, when measured, ranged in the 50s. One patient (patient 3) had normal cognitive development and attended school. Four patients had progressive spasticity of the upper and lower limbs associated with hyperreflexia and extensor plantar responses. Five patients had EMG evidence of a peripheral sensorimotor neuropathy, usually demyelinating, but sometimes with secondary axonal features. Clinical muscle strength and sensory examinations were difficult to perform. A few showed signs of cerebellar dysfunction, including ataxia, tremor, and dysmetria. Three patients had onset of various types of seizures in the first months or years of life; seizures were refractory in 2 patients. Brain imaging showed nonspecific findings in 3 patients, including cerebellar atrophy, white matter abnormalities, and delayed myelination. A fourth patient had a Chiari I malformation that was thought to be coincidental. Patient 2 had gross motor delay, abnormal gait, and speech delay with dysarthria. He developed seizures at age 3 years, but did not have electrophysiologic evidence of peripheral neuropathy at age 4; the authors suggested that neuropathy may develop with age, as he was the youngest patient in the group. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33417887" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Xue, Y.-Y., Cheng, H.-L., Dong, H.-L., Yin, H.-M., Yuan, Y., Meng, L.-C., Wu, Z.-Y., Yu, H. &lt;strong&gt;A de novo variant of POLR3B causes demyelinating Charcot-Marie-Tooth disease in a Chinese patient: a case report.&lt;/strong&gt; BMC Neurol. 21: 402, 2021.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/34666706/&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;34666706&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=34666706[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1186/s12883-021-02399-y&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="34666706">Xue et al. (2021)</a> reported a 19-year-old Chinese man who developed classic features of CMT beginning around 5 years of age. He had progressive lower limb weakness and atrophy with walking difficulties, including a steppage gait. He developed pes cavus; ankle reflexes were absent. The upper limbs became involved showing claw hands and distal muscle atrophy. He also had distal sensory impairment. Electrophysiologic studies were consistent with a sensorimotor demyelinating polyneuropathy with secondary axonal loss. Sural nerve biopsy showed loss of myelinated nerve fibers. He had normal cognition, no evidence of central nervous system involvement, and normal brain imaging. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34666706" 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>
</span>
<div>
<br />
</div>
</div>
<div>
<a id="inheritance" class="mim-anchor"></a>
<h4 href="#mimInheritanceFold" id="mimInheritanceToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimInheritanceToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
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<p>The heterozygous mutations in the POLR3B gene that were identified in patients with CMT1I by <a href="#1" class="mim-tip-reference" title="Djordjevic, D., Pinard, M., Gauthier, M.-S., Smith-Hicks, C., Hoffman, TL., Wolf, NI., Oegema, R., van Binsbergen, E., Baskin, B., Bernard, G., Fribourg, S., Coulombe, B., Yoon, G. &lt;strong&gt;De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.&lt;/strong&gt; Am. J. Hum. Genet. 108: 186-193, 2021. Note: Erratum: Am. J. Hum. Genet. 109: 759-763, 2022.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/33417887/&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;33417887&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=33417887[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2020.12.002&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="33417887">Djordjevic et al. (2021)</a> occurred de novo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33417887" 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>Molecular Genetics</strong>
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<p>In 6 unrelated patients with CMT1I, <a href="#1" class="mim-tip-reference" title="Djordjevic, D., Pinard, M., Gauthier, M.-S., Smith-Hicks, C., Hoffman, TL., Wolf, NI., Oegema, R., van Binsbergen, E., Baskin, B., Bernard, G., Fribourg, S., Coulombe, B., Yoon, G. &lt;strong&gt;De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.&lt;/strong&gt; Am. J. Hum. Genet. 108: 186-193, 2021. Note: Erratum: Am. J. Hum. Genet. 109: 759-763, 2022.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/33417887/&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;33417887&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=33417887[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ajhg.2020.12.002&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="33417887">Djordjevic et al. (2021)</a> identified de novo heterozygous missense mutations in the POLR3B gene (see, e.g., <a href="/entry/614366#0009">614366.0009</a>-<a href="/entry/614366#0012">614366.0012</a>). The mutations were found by exome sequencing and confirmed by Sanger sequencing. Affinity purification coupled with mass spectrometry performed on HEK293 cells transfected with the variants showed that 5 of the 6 impaired the association of POLR3B with 1 or more of the other RNA pol III subunits; the sixth variant showed disrupted association of POLR3B with multiple proteins. These findings suggested that the most of the mutations would render the enzyme inactive. All of the variants localized properly to the nucleus. Western blot analysis of fibroblasts from 1 patient showed normal protein expression. The authors postulated a dominant-negative effect, but noted that more studies were needed to confirm the pathogenetic mechanism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33417887" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 19-year-old Chinese man with CMT1I, <a href="#2" class="mim-tip-reference" title="Xue, Y.-Y., Cheng, H.-L., Dong, H.-L., Yin, H.-M., Yuan, Y., Meng, L.-C., Wu, Z.-Y., Yu, H. &lt;strong&gt;A de novo variant of POLR3B causes demyelinating Charcot-Marie-Tooth disease in a Chinese patient: a case report.&lt;/strong&gt; BMC Neurol. 21: 402, 2021.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/34666706/&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;34666706&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=34666706[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1186/s12883-021-02399-y&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="34666706">Xue et al. (2021)</a> identified a de novo heterozygous R1046H mutation at a highly conserved residue in the POLR3B gene. The mutation, which was found by exome sequencing, was absent from public databases, including gnomAD. Functional studies of the variant and studies of patient cells were not performed. He had normal cognition and no evidence of central nervous system involvement. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34666706" 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>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
<a id="Djordjevic2021" class="mim-anchor"></a>
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Djordjevic, D., Pinard, M., Gauthier, M.-S., Smith-Hicks, C., Hoffman, TL., Wolf, NI., Oegema, R., van Binsbergen, E., Baskin, B., Bernard, G., Fribourg, S., Coulombe, B., Yoon, G.
<strong>De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.</strong>
Am. J. Hum. Genet. 108: 186-193, 2021. Note: Erratum: Am. J. Hum. Genet. 109: 759-763, 2022.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/33417887/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">33417887</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=33417887[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=33417887" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/j.ajhg.2020.12.002" target="_blank">Full Text</a>]
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<a id="Xue2021" class="mim-anchor"></a>
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<p class="mim-text-font">
Xue, Y.-Y., Cheng, H.-L., Dong, H.-L., Yin, H.-M., Yuan, Y., Meng, L.-C., Wu, Z.-Y., Yu, H.
<strong>A de novo variant of POLR3B causes demyelinating Charcot-Marie-Tooth disease in a Chinese patient: a case report.</strong>
BMC Neurol. 21: 402, 2021.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/34666706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">34666706</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=34666706[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=34666706" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1186/s12883-021-02399-y" target="_blank">Full Text</a>]
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carol : 06/17/2022
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alopez : 02/14/2022<br>ckniffin : 02/10/2022
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<h3>
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<strong>#</strong> 619742
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CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I
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<em>Alternative titles; symbols</em>
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CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1I
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<strong>Phenotype-Gene Relationships</strong>
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<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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<span class="mim-font">
12q23.3
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Charcot-Marie-Tooth disease, demyelinating, type 1I
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<span class="mim-font">
619742
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Autosomal dominant
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3
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POLR3B
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614366
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that demyelinating Charcot-Marie-Tooth disease type 1I (CMT1I) is caused by heterozygous mutation in the POLR3B gene (614366) on chromosome 12q23.</p>
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<strong>Description</strong>
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<p>Demyelinating Charcot-Marie-Tooth disease type 1I (CMT1I) is a neurologic disorder characterized predominantly by delayed motor development in the first years of life associated with gait abnormalities, sensory ataxia, hyporeflexia, and distal sensory impairment due to a sensorimotor peripheral neuropathy that mainly affects the lower limbs. The disorder is progressive, and some may have upper limb involvement. A subset of patients has central nervous system involvement that manifests as global developmental delay with impaired intellectual development and speech difficulties. Other features may include spasticity, hyperreflexia, tremor, dysmetria, seizures, or cerebellar findings. Brain imaging may be normal or show nonspecific abnormalities, such as white matter signal changes and delayed myelination (summary by Djordjevic et al., 2021). </p><p>For a discussion of genetic heterogeneity of autosomal dominant Charcot-Marie-Tooth disease type 1, see CMT1B (118200).</p>
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<strong>Clinical Features</strong>
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<p>Djordjevic et al. (2021) reported 6 unrelated patients, ranging from 4 to 22 years of age, with a complex neurologic disorder. They presented in the first years of life with motor delay and walking between 18 months and 3.5 years of age. Walking was impaired by wide-based gait, awkward in-toed gait, or ataxia. Five patients had impaired intellectual development with speech delay and dysarthria. IQ, when measured, ranged in the 50s. One patient (patient 3) had normal cognitive development and attended school. Four patients had progressive spasticity of the upper and lower limbs associated with hyperreflexia and extensor plantar responses. Five patients had EMG evidence of a peripheral sensorimotor neuropathy, usually demyelinating, but sometimes with secondary axonal features. Clinical muscle strength and sensory examinations were difficult to perform. A few showed signs of cerebellar dysfunction, including ataxia, tremor, and dysmetria. Three patients had onset of various types of seizures in the first months or years of life; seizures were refractory in 2 patients. Brain imaging showed nonspecific findings in 3 patients, including cerebellar atrophy, white matter abnormalities, and delayed myelination. A fourth patient had a Chiari I malformation that was thought to be coincidental. Patient 2 had gross motor delay, abnormal gait, and speech delay with dysarthria. He developed seizures at age 3 years, but did not have electrophysiologic evidence of peripheral neuropathy at age 4; the authors suggested that neuropathy may develop with age, as he was the youngest patient in the group. </p><p>Xue et al. (2021) reported a 19-year-old Chinese man who developed classic features of CMT beginning around 5 years of age. He had progressive lower limb weakness and atrophy with walking difficulties, including a steppage gait. He developed pes cavus; ankle reflexes were absent. The upper limbs became involved showing claw hands and distal muscle atrophy. He also had distal sensory impairment. Electrophysiologic studies were consistent with a sensorimotor demyelinating polyneuropathy with secondary axonal loss. Sural nerve biopsy showed loss of myelinated nerve fibers. He had normal cognition, no evidence of central nervous system involvement, and normal brain imaging. </p>
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<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The heterozygous mutations in the POLR3B gene that were identified in patients with CMT1I by Djordjevic et al. (2021) occurred de novo. </p>
</span>
<div>
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<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In 6 unrelated patients with CMT1I, Djordjevic et al. (2021) identified de novo heterozygous missense mutations in the POLR3B gene (see, e.g., 614366.0009-614366.0012). The mutations were found by exome sequencing and confirmed by Sanger sequencing. Affinity purification coupled with mass spectrometry performed on HEK293 cells transfected with the variants showed that 5 of the 6 impaired the association of POLR3B with 1 or more of the other RNA pol III subunits; the sixth variant showed disrupted association of POLR3B with multiple proteins. These findings suggested that the most of the mutations would render the enzyme inactive. All of the variants localized properly to the nucleus. Western blot analysis of fibroblasts from 1 patient showed normal protein expression. The authors postulated a dominant-negative effect, but noted that more studies were needed to confirm the pathogenetic mechanism. </p><p>In a 19-year-old Chinese man with CMT1I, Xue et al. (2021) identified a de novo heterozygous R1046H mutation at a highly conserved residue in the POLR3B gene. The mutation, which was found by exome sequencing, was absent from public databases, including gnomAD. Functional studies of the variant and studies of patient cells were not performed. He had normal cognition and no evidence of central nervous system involvement. </p>
</span>
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<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
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<li>
<p class="mim-text-font">
Djordjevic, D., Pinard, M., Gauthier, M.-S., Smith-Hicks, C., Hoffman, TL., Wolf, NI., Oegema, R., van Binsbergen, E., Baskin, B., Bernard, G., Fribourg, S., Coulombe, B., Yoon, G.
<strong>De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy.</strong>
Am. J. Hum. Genet. 108: 186-193, 2021. Note: Erratum: Am. J. Hum. Genet. 109: 759-763, 2022.
[PubMed: 33417887]
[Full Text: https://doi.org/10.1016/j.ajhg.2020.12.002]
</p>
</li>
<li>
<p class="mim-text-font">
Xue, Y.-Y., Cheng, H.-L., Dong, H.-L., Yin, H.-M., Yuan, Y., Meng, L.-C., Wu, Z.-Y., Yu, H.
<strong>A de novo variant of POLR3B causes demyelinating Charcot-Marie-Tooth disease in a Chinese patient: a case report.</strong>
BMC Neurol. 21: 402, 2021.
[PubMed: 34666706]
[Full Text: https://doi.org/10.1186/s12883-021-02399-y]
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Cassandra L. Kniffin : 02/09/2022
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carol : 06/17/2022<br>alopez : 02/14/2022<br>ckniffin : 02/10/2022
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