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<title>
Entry
- #617761 - JOUBERT SYNDROME 31; JBTS31
- OMIM
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<span class="h4">#617761</span>
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/617761"><strong>Clinical Synopsis</strong></a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=JOUBERT SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=1022&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<strong>ORPHA:</strong> 475<br />
<strong>DO:</strong> 0080277<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
617761
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
JOUBERT SYNDROME 31; JBTS31
</span>
</h3>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/402?start=-3&limit=10&highlight=402">
5q23.2
</a>
</span>
</td>
<td>
<span class="mim-font">
Joubert syndrome 31
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617761"> 617761 </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">
CEP120
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613446"> 613446 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/617761" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS213300" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/617761" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/617761" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Nystagmus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/563001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">563001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028738</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span><br /> -
Strabismus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22066006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22066006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038379</a>, <a href="https://bioportal.bioontology.org/search?q=C2020541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2020541</a>, <a href="https://bioportal.bioontology.org/search?q=C1423541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1423541</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span><br /> -
Ocular motor apraxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193662007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193662007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405809000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405809000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0543874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0543874</a>, <a href="https://bioportal.bioontology.org/search?q=C3489733&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3489733</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000657" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000657</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000657" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000657</a>]</span><br /> -
Duane syndrome <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60318001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60318001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/378.71" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">378.71</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013261&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013261</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009921" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009921</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br /> -
Neonatal breathing abnormalities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4540356&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4540356</a>]</span><br /> -
Developmental delay <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248290002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248290002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/224958001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">224958001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F88</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/315.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">315.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0557874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0557874</a>, <a href="https://bioportal.bioontology.org/search?q=C0424605&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424605</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span><br /> -
Cognitive impairment <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/386806002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">386806002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0338656&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0338656</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100543" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100543</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100543" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100543</a>]</span><br /> -
Truncal ataxia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/250067008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">250067008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0427190&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0427190</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002078" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002078</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002078" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002078</a>]</span><br /> -
Molar tooth sign <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865060&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865060</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002419</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002419" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002419</a>]</span><br /> -
Hypoplasia of corpus callosum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204043002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204043002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0344482&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0344482</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002079" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002079</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002079" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002079</a>]</span><br /> -
Mild ventriculomegaly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4479578&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4479578</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413808003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413808003</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002119</a>]</span><br />
</span>
</div>
</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 120-kd centrosomal protein (CEP120, <a href="/entry/613446#0004">613446.0004</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Joubert syndrome
- <a href="/phenotypicSeries/PS213300">PS213300</a>
- 43 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/1/84?start=-3&limit=10&highlight=84"> 1p36.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616781"> Joubert syndrome 25 </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/616781"> 616781 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616690"> CEP104 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616690"> 616690 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/555?start=-3&limit=10&highlight=555"> 2q13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609583"> Joubert syndrome 4 </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/609583"> 609583 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607100"> NPHP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607100"> 607100 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/919?start=-3&limit=10&highlight=919"> 2q33.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614424"> Joubert syndrome 14 </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/614424"> 614424 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614423"> TMEM237 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614423"> 614423 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/1097?start=-3&limit=10&highlight=1097"> 2q37.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617622"> Joubert syndrome 30 </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/617622"> 617622 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617612"> ARMC9 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617612"> 617612 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/1104?start=-3&limit=10&highlight=1104"> 2q37.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615665"> Joubert syndrome 22 </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/615665"> 615665 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602676"> PDE6D </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602676"> 602676 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/482?start=-3&limit=10&highlight=482"> 3q11.1-q11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612291"> Joubert syndrome 8 </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/612291"> 612291 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608922"> ARL13B </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608922"> 608922 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/4/106?start=-3&limit=10&highlight=106"> 4p15.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612285"> Joubert syndrome 9 </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/612285"> 612285 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612013"> CC2D2A </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/612013"> 612013 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/116?start=-3&limit=10&highlight=116"> 5p13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614615"> Joubert syndrome 17 </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/614615"> 614615 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614571"> CPLANE1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614571"> 614571 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/5/402?start=-3&limit=10&highlight=402"> 5q23.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617761"> Joubert syndrome 31 </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/617761"> 617761 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613446"> CEP120 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613446"> 613446 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/6/884?start=-3&limit=10&highlight=884"> 6q23.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608629"> Joubert syndrome 3 </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/608629"> 608629 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608894"> AHI1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608894"> 608894 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/680?start=-3&limit=10&highlight=680"> 7q32.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614464"> Joubert syndrome 15 </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/614464"> 614464 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610523"> CEP41 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610523"> 610523 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/324?start=-3&limit=10&highlight=324"> 8q13.1-q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615636"> Joubert syndrome 21 </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/615636"> 615636 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611654"> CSPP1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611654"> 611654 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/405?start=-3&limit=10&highlight=405"> 8q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610688"> Joubert syndrome 6 </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/610688"> 610688 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609884"> TMEM67 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609884"> 609884 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/111?start=-3&limit=10&highlight=111"> 9p21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619582"> Joubert syndrome 40 </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/619582"> 619582 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608040"> IFT74 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608040"> 608040 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/9/654?start=-3&limit=10&highlight=654"> 9q34.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/213300"> Joubert syndrome 1 </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/213300"> 213300 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613037"> INPP5E </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613037"> 613037 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/297?start=-3&limit=10&highlight=297"> 10q22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618763"> Joubert syndrome 36 </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/618763"> 618763 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618413"> FAM149B1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618413"> 618413 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/428?start=-3&limit=10&highlight=428"> 10q24.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614815"> Joubert syndrome 18 </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/614815"> 614815 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613847"> TCTN3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613847"> 613847 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/521?start=-3&limit=10&highlight=521"> 10q24.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617757"> Joubert syndrome 32 </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/617757"> 617757 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607035"> SUFU </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607035"> 607035 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/523?start=-3&limit=10&highlight=523"> 10q24.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618161"> Joubert syndrome 35 </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/618161"> 618161 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604695"> ARL3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604695"> 604695 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/454?start=-3&limit=10&highlight=454"> 11q12.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614465"> Joubert syndrome 16 </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/614465"> 614465 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614459"> TMEM138 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614459"> 614459 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/455?start=-3&limit=10&highlight=455"> 11q12.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608091"> Joubert syndrome 2 </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/608091"> 608091 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613277"> TMEM216 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613277"> 613277 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/11/1061?start=-3&limit=10&highlight=1061"> 11q24.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619562"> Joubert syndrome 39 </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/619562"> 619562 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619285"> TMEM218 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619285"> 619285 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/664?start=-3&limit=10&highlight=664"> 12q21.32 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610188"> Joubert syndrome 5 </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/610188"> 610188 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610142"> CEP290 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610142"> 610142 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/805?start=-3&limit=10&highlight=805"> 12q24.11 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614173"> Joubert syndrome 13 </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/614173"> 614173 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609863"> TCTN1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609863"> 609863 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/12/934?start=-3&limit=10&highlight=934"> 12q24.31 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616654"> Joubert syndrome 24 </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/616654"> 616654 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613846"> TCTN2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613846"> 613846 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/13/218?start=-3&limit=10&highlight=218"> 13q21.33-q22.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617767"> Joubert syndrome 33 </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/617767"> 617767 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607532"> PIBF1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/607532"> 607532 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/197?start=-3&limit=10&highlight=197"> 14q21.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619185"> Joubert syndrome 37 </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/619185"> 619185 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617618"> TOGARAM1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617618"> 617618 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/14/276?start=-3&limit=10&highlight=276"> 14q23.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616490"> Joubert syndrome 23 </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/616490"> 616490 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610178"> KIAA0586 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610178"> 610178 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/503?start=-3&limit=10&highlight=503"> 15q26.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/200990"> Acrocallosal syndrome </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/200990"> 200990 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611254"> KIF7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611254"> 611254 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/15/503?start=-3&limit=10&highlight=503"> 15q26.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/200990"> Joubert syndrome 12 </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/200990"> 200990 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611254"> KIF7 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611254"> 611254 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/297?start=-3&limit=10&highlight=297"> 16p12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616784"> Joubert syndrome 26 </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/616784"> 616784 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616650"> KATNIP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616650"> 616650 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/421?start=-3&limit=10&highlight=421"> 16q12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614844"> Joubert syndrome 19 </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/614844"> 614844 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604557"> ZNF423 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604557"> 604557 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/421?start=-3&limit=10&highlight=421"> 16q12.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614844"> Nephronophthisis 14 </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/614844"> 614844 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604557"> ZNF423 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604557"> 604557 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/436?start=-3&limit=10&highlight=436"> 16q12.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611560"> Joubert syndrome 7 </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/611560"> 611560 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610937"> RPGRIP1L </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610937"> 610937 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/652?start=-3&limit=10&highlight=652"> 16q23.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614970"> Joubert syndrome 20 </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/614970"> 614970 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614949"> TMEM231 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614949"> 614949 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/121?start=-3&limit=10&highlight=121"> 17p13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/619476"> ?Joubert syndrome 38 </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/619476"> 619476 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617112"> KIAA0753 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617112"> 617112 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/198?start=-3&limit=10&highlight=198"> 17p13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617562"> ?Joubert syndrome 29 </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/617562"> 617562 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616183"> TMEM107 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616183"> 616183 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/198?start=-3&limit=10&highlight=198"> 17p13.1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617562"> Meckel syndrome 13 </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/617562"> 617562 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616183"> TMEM107 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/616183"> 616183 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/294?start=-3&limit=10&highlight=294"> 17p11.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617120"> Joubert syndrome 27 </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/617120"> 617120 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614144"> B9D1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614144"> 614144 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/17/781?start=-3&limit=10&highlight=781"> 17q22 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/617121"> Joubert syndrome 28 </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/617121"> 617121 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609883"> MKS1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609883"> 609883 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/727?start=-3&limit=10&highlight=727"> 19q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614175"> Joubert syndrome 34 </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/614175"> 614175 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611951"> B9D2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611951"> 611951 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/19/727?start=-3&limit=10&highlight=727"> 19q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/614175"> ?Meckel syndrome 10 </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/614175"> 614175 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611951"> B9D2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/611951"> 611951 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/X/70?start=-3&limit=10&highlight=70"> Xp22.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300804"> Joubert syndrome 10 </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/300804"> 300804 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300170"> OFD1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/300170"> 300170 </a>
</span>
</td>
</tr>
</tbody>
</table>
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<p>A number sign (#) is used with this entry because of evidence that Joubert syndrome-31 (JBTS31) is caused by homozygous or compound heterozygous mutation in the CEP120 gene (<a href="/entry/613446">613446</a>) on chromosome 5q23.</p><p>Biallelic mutations in the CEP120 gene have also been reported in patients with short-rib thoracic dysplasia-13 (SRTD13; <a href="/entry/616300">616300</a>).</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (<a href="/entry/213300">213300</a>).</p>
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<p><a href="#1" class="mim-tip-reference" title="Roosing, S., Romani, M., Isrie, M., Rosti, R. O., Micalizzi, A., Musaev, D., Mazza, T., Al-gazali, L., Altunoglu, U., Boltshauser, E., D&#x27;Arrigo, S., De Keersmaeker, B., and 12 others. &lt;strong&gt;Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.&lt;/strong&gt; J. Med. Genet. 53: 608-615, 2016.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/27208211/&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;27208211&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=27208211[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/10.1136/jmedgenet-2016-103832&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="27208211">Roosing et al. (2016)</a> reported 4 probands diagnosed with Joubert syndrome who had biallelic mutations in the CEP120 gene, including a 4.5-year-old girl from Italy (COR391), an 11-year-old boy from the United States (MTI-143), a 2-year-old boy from Palestine (MTI-991), and a 2-year-old girl from India (MTI-1516). All 4 patients presented with a neurologic phenotype consisting of hypotonia, developmental delay, and cognitive impairment, and all exhibited the molar tooth sign. Ataxia and neonatal breathing abnormalities were reported in 2 patients (MTI-143 and MTI-1516), and patient MTI-143 also had abnormal ocular movements. None of the 4 showed involvement of other organs such as retina, kidneys, liver, or skeleton. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27208211" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of Joubert syndrome in the families reported by <a href="#1" class="mim-tip-reference" title="Roosing, S., Romani, M., Isrie, M., Rosti, R. O., Micalizzi, A., Musaev, D., Mazza, T., Al-gazali, L., Altunoglu, U., Boltshauser, E., D&#x27;Arrigo, S., De Keersmaeker, B., and 12 others. &lt;strong&gt;Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.&lt;/strong&gt; J. Med. Genet. 53: 608-615, 2016.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/27208211/&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;27208211&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=27208211[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/10.1136/jmedgenet-2016-103832&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="27208211">Roosing et al. (2016)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27208211" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Roosing, S., Romani, M., Isrie, M., Rosti, R. O., Micalizzi, A., Musaev, D., Mazza, T., Al-gazali, L., Altunoglu, U., Boltshauser, E., D&#x27;Arrigo, S., De Keersmaeker, B., and 12 others. &lt;strong&gt;Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.&lt;/strong&gt; J. Med. Genet. 53: 608-615, 2016.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/27208211/&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;27208211&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=27208211[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/10.1136/jmedgenet-2016-103832&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="27208211">Roosing et al. (2016)</a> performed exome sequencing in a cohort of 145 patients with Joubert syndrome, including 15 children diagnosed with orofaciodigital syndrome type VI (OFD6; <a href="/entry/277170">277170</a>), and also screened a panel of 120 known and candidate ciliopathy genes, including CEP120, in a cohort of 346 probands with a phenotype consistent with Joubert syndrome or related ciliopathies. In 4 (0.8%) of the 491 JBTS patients, the authors identified homozygous or compound heterozygous mutations in the CEP120 gene (see, e.g., <a href="/entry/613446#0004">613446.0004</a>-<a href="/entry/613446#0008">613446.0008</a>). Noting that all 4 patients had a relatively mild, purely neurologic phenotype, whereas other patients with mutations in CEP120 exhibit a more complex and severe phenotype (see SRTD13, <a href="/entry/616300">616300</a>), <a href="#1" class="mim-tip-reference" title="Roosing, S., Romani, M., Isrie, M., Rosti, R. O., Micalizzi, A., Musaev, D., Mazza, T., Al-gazali, L., Altunoglu, U., Boltshauser, E., D&#x27;Arrigo, S., De Keersmaeker, B., and 12 others. &lt;strong&gt;Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.&lt;/strong&gt; J. Med. Genet. 53: 608-615, 2016.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/27208211/&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;27208211&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=27208211[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/10.1136/jmedgenet-2016-103832&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="27208211">Roosing et al. (2016)</a> stated that the mechanism through which mutations in the same gene cause such wide phenotypic variability remained unexplained. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27208211" 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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Roosing, S., Romani, M., Isrie, M., Rosti, R. O., Micalizzi, A., Musaev, D., Mazza, T., Al-gazali, L., Altunoglu, U., Boltshauser, E., D'Arrigo, S., De Keersmaeker, B., and 12 others.
<strong>Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.</strong>
J. Med. Genet. 53: 608-615, 2016.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27208211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27208211</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27208211[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=27208211" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmedgenet-2016-103832" target="_blank">Full Text</a>]
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Marla J. F. O&#x27;Neill : 11/06/2017
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<strong>#</strong> 617761
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JOUBERT SYNDROME 31; JBTS31
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<strong>ORPHA:</strong> 475; &nbsp;
<strong>DO:</strong> 0080277; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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5q23.2
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Joubert syndrome 31
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617761
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Autosomal recessive
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3
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CEP120
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613446
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Joubert syndrome-31 (JBTS31) is caused by homozygous or compound heterozygous mutation in the CEP120 gene (613446) on chromosome 5q23.</p><p>Biallelic mutations in the CEP120 gene have also been reported in patients with short-rib thoracic dysplasia-13 (SRTD13; 616300).</p><p>For a general phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (213300).</p>
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<strong>Clinical Features</strong>
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<p>Roosing et al. (2016) reported 4 probands diagnosed with Joubert syndrome who had biallelic mutations in the CEP120 gene, including a 4.5-year-old girl from Italy (COR391), an 11-year-old boy from the United States (MTI-143), a 2-year-old boy from Palestine (MTI-991), and a 2-year-old girl from India (MTI-1516). All 4 patients presented with a neurologic phenotype consisting of hypotonia, developmental delay, and cognitive impairment, and all exhibited the molar tooth sign. Ataxia and neonatal breathing abnormalities were reported in 2 patients (MTI-143 and MTI-1516), and patient MTI-143 also had abnormal ocular movements. None of the 4 showed involvement of other organs such as retina, kidneys, liver, or skeleton. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of Joubert syndrome in the families reported by Roosing et al. (2016) was consistent with autosomal recessive inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>Roosing et al. (2016) performed exome sequencing in a cohort of 145 patients with Joubert syndrome, including 15 children diagnosed with orofaciodigital syndrome type VI (OFD6; 277170), and also screened a panel of 120 known and candidate ciliopathy genes, including CEP120, in a cohort of 346 probands with a phenotype consistent with Joubert syndrome or related ciliopathies. In 4 (0.8%) of the 491 JBTS patients, the authors identified homozygous or compound heterozygous mutations in the CEP120 gene (see, e.g., 613446.0004-613446.0008). Noting that all 4 patients had a relatively mild, purely neurologic phenotype, whereas other patients with mutations in CEP120 exhibit a more complex and severe phenotype (see SRTD13, 616300), Roosing et al. (2016) stated that the mechanism through which mutations in the same gene cause such wide phenotypic variability remained unexplained. </p>
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<strong>REFERENCES</strong>
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<p />
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<p class="mim-text-font">
Roosing, S., Romani, M., Isrie, M., Rosti, R. O., Micalizzi, A., Musaev, D., Mazza, T., Al-gazali, L., Altunoglu, U., Boltshauser, E., D'Arrigo, S., De Keersmaeker, B., and 12 others.
<strong>Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.</strong>
J. Med. Genet. 53: 608-615, 2016.
[PubMed: 27208211]
[Full Text: https://doi.org/10.1136/jmedgenet-2016-103832]
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Marla J. F. O&#x27;Neill : 11/06/2017
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carol : 03/01/2024<br>carol : 11/06/2017
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