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<title>
Entry
- #213300 - JOUBERT SYNDROME 1; JBTS1
- OMIM
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<span class="h4">#213300</span>
<br />
<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/213300"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS213300"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#cytogenetics">Cytogenetics</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" style="margin-left: 1em">
<a href="#nomenclature">Nomenclature</a>
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<a href="#history">History</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<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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<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:0110980" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
<div><a href="http://www.informatics.jax.org/disease/213300" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
<div><a href="https://omia.org/OMIA002173/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
</span>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 253175003, 716997004<br />
<strong>ORPHA:</strong> 475<br />
<strong>DO:</strong> 0110980<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>
213300
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
JOUBERT SYNDROME 1; JBTS1
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
JOUBERT SYNDROME; JBTS<br />
JOUBERT-BOLTSHAUSER SYNDROME<br />
CEREBELLOPARENCHYMAL DISORDER IV; CPD4<br />
CEREBELLOOCULORENAL SYNDROME 1; CORS1
</span>
</h4>
</div>
</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/9/654?start=-3&limit=10&highlight=654">
9q34.3
</a>
</span>
</td>
<td>
<span class="mim-font">
Joubert syndrome 1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/213300"> 213300 </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">
INPP5E
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613037"> 613037 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/213300" 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>
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&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/213300" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/213300" 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> Head </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Macrocephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12138000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12138000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1145403003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1145403003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221355&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221355</a>, <a href="https://bioportal.bioontology.org/search?q=C2243051&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2243051</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001355" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001355</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=dd989bb153739761147ef05dc870b050" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Macrocephaly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=dd989bb153739761147ef05dc870b050&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Prominent forehead <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837260</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011220" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011220</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011220" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011220</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=a2091161c29564b62e12b608022a4044" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Forehead,Prominent-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=a2091161c29564b62e12b608022a4044&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 /> -
High rounded eyebrows <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868571&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868571</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002553" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002553</a>]</span><br /> -
Hemifacial spasms <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13753008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13753008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0278152&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0278152</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010828</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010828</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Low-set ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95515009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95515009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239234&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239234</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000369</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000369</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Ear,Low-Set-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931&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 /> -
Tilted ears <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4538565&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4538565</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Abnormal jerky eye movements <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842583&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842583</a>]</span><br /> -
Impaired smooth pursuit <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837458&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837458</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007772" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007772</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007772" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007772</a>]</span><br /> -
Impaired saccades <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842584&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842584</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000570" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000570</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000570" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000570</a>]</span><br /> -
Oculomotor 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/405810005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405810005</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">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H16.32" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H16.32</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=C0271270&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0271270</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 /> -
Coloboma of optic nerve <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44295002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44295002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.319</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H47.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H47.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q14.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q14.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/377.23" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">377.23</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0155299&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0155299</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000588" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000588</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000588" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000588</a>]</span><br /> -
Chorioretinal coloboma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204173008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204173008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39302008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39302008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q14.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q14.8</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.52</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3540764&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3540764</a>, <a href="https://bioportal.bioontology.org/search?q=C0240896&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240896</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000480" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000480</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000567" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000567</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000567" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000567</a>]</span><br /> -
Retinal dysplasia (less common) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95494009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95494009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035313&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035313</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007973" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007973</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007973" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007973</a>]</span><br /> -
Retinal dystrophy (less common) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/314407005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">314407005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0854723&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0854723</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000556" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000556</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000556" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000556</a>]</span><br /> -
Epicanthal folds <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74824007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74824007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0678230&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0678230</a>, <a href="https://bioportal.bioontology.org/search?q=C0229249&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0229249</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000286</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000286</a>]</span><br /> -
Ptosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11934000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11934000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29696001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29696001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.409" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.409</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/374.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.3</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/374.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005745&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005745</a>, <a href="https://bioportal.bioontology.org/search?q=C0033377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033377</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Ptosis-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Nose </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Upturned nose <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/708670007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">708670007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840077&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840077</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000463" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000463</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000463" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000463</a>]</span><br /> -
Anteverted nostrils <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/708670007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">708670007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840077&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840077</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000463" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000463</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000463" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000463</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Triangular-shaped open mouth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859292&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859292</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200096" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200096</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200096" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200096</a>]</span><br /> -
Protruding tongue <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249872000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249872000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/285503005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">285503005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241442&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241442</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010808</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010808" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010808</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=a5aa73dcc42adf91162715d89977ff62" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Tongue,Protruding-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=a5aa73dcc42adf91162715d89977ff62&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 /> -
Rhythmic tongue movements <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859293&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859293</a>]</span><br /> -
Soft tissue tumors of the tongue (less common) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859294&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859294</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> RESPIRATORY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Neonatal breathing dysregulation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806216&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806216</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002790" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002790</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002790" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002790</a>]</span><br /> -
Hyperpnea, episodic <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806218</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002876" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002876</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002876" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002876</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/180928006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">180928006</a>]</span><br /> -
Tachypnea, episodic <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806218</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002876" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002876</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271823003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271823003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R06.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R06.82</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/786.06" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">786.06</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002789" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002789</a>]</span><br /> -
Central apnea <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0520680&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0520680</a>, <a href="https://bioportal.bioontology.org/search?q=C3887548&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887548</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010536" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010536</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002871" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002871</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002871" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002871</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Liver </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hepatic fibrosis (less common) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62484002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62484002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K74.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K74.00</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K74.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K74.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239946&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239946</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001395" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001395</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001395" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001395</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Kidneys </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Renal cysts (less common) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/722223000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">722223000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3887499&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887499</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000107" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000107</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000107" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000107</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Missing digital phalanges (less common) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806215&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806215</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Polydactyly, postaxial (less common) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0220697&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0220697</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100259</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100259</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">
- Delayed psychomotor development <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 /> -
Mental retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a>, <a href="https://bioportal.bioontology.org/search?q=C0025362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
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 /> -
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 /> -
Occipital meningocele (less common) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/445468002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">445468002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848652&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848652</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002436" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002436</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002436" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002436</a>]</span><br /> -
Occipital myelomeningocele (less common) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4024912&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4024912</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007271" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007271</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007271" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007271</a>]</span><br /> -
Hypoplasia of the brainstem <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842688&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842688</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002365</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002365</a>]</span><br /> -
Malformation of brainstem structures <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855677&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855677</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002508</a>]</span><br /> -
Molar tooth sign seen on MRI <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3554236&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3554236</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 /> -
Cerebellar vermis hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840379</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001320" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001320</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001320" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001320</a>]</span><br /> -
Dysgenesis or agenesis of the cerebellar vermis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842578&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842578</a>]</span><br /> -
Deep posterior interpeduncular fossa <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837716&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837716</a>]</span><br /> -
Thick and elongated superior cerebellar peduncles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837717&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837717</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">
- Hyperactivity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44548000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44548000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424295&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424295</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>]</span> <span class="mim-feature-ids hidden">[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>]</span><br /> -
Aggressiveness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61372001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61372001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0001807&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0001807</a>, <a href="https://bioportal.bioontology.org/search?q=C1457883&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1457883</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006919" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006919</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000718" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000718</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000718" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000718</a>]</span><br /> -
Self-mutilation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/130968006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">130968006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2242914&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2242914</a>, <a href="https://bioportal.bioontology.org/search?q=C0036601&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036601</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000742" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000742</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000742" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000742</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">
- 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 /> -
Genetic heterogeneity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242960&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242960</a>]</span><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 inositol polyphosphate-5-phosphatase, 72-kd gene (INPP5E, <a href="/entry/613037#0002">613037.0002</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"> 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/16/421?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/16/436?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>
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<a href="/entry/619476"> ?Joubert syndrome 38 </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<a href="/entry/617562"> ?Joubert syndrome 29 </a>
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<a href="/entry/617120"> Joubert syndrome 27 </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<a href="/entry/617121"> Joubert syndrome 28 </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<a href="/entry/609883"> MKS1 </a>
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<a href="/entry/609883"> 609883 </a>
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<a href="/entry/614175"> ?Meckel syndrome 10 </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<a href="/geneMap/19/727?start=-3&limit=10&highlight=727"> 19q13.2 </a>
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<a href="/entry/614175"> Joubert syndrome 34 </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<a href="/entry/611951"> B9D2 </a>
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<a href="/entry/611951"> 611951 </a>
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<a href="/entry/300804"> Joubert syndrome 10 </a>
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<abbr class="mim-tip-hint" title="X-linked recessive">XLR</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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<a href="/entry/300804"> 300804 </a>
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<a href="/entry/300170"> OFD1 </a>
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<a href="/entry/300170"> 300170 </a>
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<p>A number sign (#) is used with this entry because of evidence that Joubert syndrome-1 (JBTS1) is caused by homozygous mutation in the INPP5E gene (<a href="/entry/613037">613037</a>) on chromosome 9q34.</p>
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<p>Joubert syndrome is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic 'molar tooth sign,' and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. Other variable features include retinal dystrophy and renal anomalies (<a href="#25" class="mim-tip-reference" title="Saraiva, J. M., Baraitser, M. &lt;strong&gt;Joubert syndrome: a review.&lt;/strong&gt; Am. J. Med. Genet. 43: 726-731, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1341417/&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;1341417&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320430415&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="1341417">Saraiva and Baraitser, 1992</a>; <a href="#29" class="mim-tip-reference" title="Valente, E. M., Marsh, S. E., Castori, M., Dixon-Salazar, T., Bertini, E., Al-Gazali, L., Messer, J., Barbot, C., Woods, C. G., Boltshauser, E., Al-Tawari, A. A., Salpietro, C. D., Kayserili, H., Sztriha, L., Gribaa, M., Koenig, M., Dallapiccola, B., Gleeson, J. G. &lt;strong&gt;Distinguishing the four genetic causes of Joubert syndrome-related disorders.&lt;/strong&gt; Ann. Neurol. 57: 513-519, 2005. Note: Erratum: Ann. Neurol. 57: 934 only, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15786477/&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;15786477&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.20422&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="15786477">Valente et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15786477+1341417" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Joubert Syndrome</em></strong></p><p>
See also JBTS2 (<a href="/entry/608091">608091</a>), caused by mutation in the TMEM216 gene (<a href="/entry/613277">613277</a>) on chromosome 11q13; JBTS3 (<a href="/entry/608629">608629</a>), caused by mutation in the AHI1 gene (<a href="/entry/608894">608894</a>) on chromosome 6q23; JBTS4 (<a href="/entry/609583">609583</a>), caused by mutation in the NPHP1 gene (<a href="/entry/607100">607100</a>) on chromosome 2q13; JBTS5 (<a href="/entry/610188">610188</a>), caused by mutation in the CEP290 gene, also called NPHP6 (<a href="/entry/610142">610142</a>), on chromosome 12q21; JBTS6 (<a href="/entry/610688">610688</a>), caused by mutation in the TMEM67 gene (<a href="/entry/609884">609884</a>) on chromosome 8q21; JBTS7 (<a href="/entry/611560">611560</a>), caused by mutation in the RPGRIP1L gene (<a href="/entry/610937">610937</a>) on chromosome 16q12; JBTS8 (<a href="/entry/612291">612291</a>), caused by mutation in the ARL13B (<a href="/entry/608922">608922</a>) on chromosome 3q11; JBTS9 (<a href="/entry/612285">612285</a>), caused by mutation in the CC2D2A gene (<a href="/entry/612013">612013</a>) on chromosome 4p15; JBTS10 (<a href="/entry/300804">300804</a>), caused by mutation in the CXORF5 gene (<a href="/entry/300170">300170</a>) on chromosome Xp22; JBTS11 (see <a href="/entry/613820">613820</a>), caused by mutation in the TTC21B gene (<a href="/entry/612014">612014</a>) on chromosome 2q24; JBTS12 (see <a href="/entry/200990">200990</a>), caused by mutation in the KIF7 gene (<a href="/entry/611254">611254</a>) on chromosome 15q26; JBTS13 (<a href="/entry/614173">614173</a>), caused by mutation in the TCTN1 gene (<a href="/entry/609863">609863</a>) on chromosome 12q24; JBTS14 (<a href="/entry/614424">614424</a>), caused by mutation in the TMEM237 gene (<a href="/entry/614423">614423</a>) on chromosome 2q33; JBTS15 (<a href="/entry/614464">614464</a>), caused by mutation in the CEP41 gene (<a href="/entry/610523">610523</a>) on chromosome 7q32; JBTS16 (<a href="/entry/614465">614465</a>), caused by mutation in the TMEM138 gene (<a href="/entry/614459">614459</a>) on chromosome 11q; JBTS17 (<a href="/entry/614615">614615</a>), caused by mutation in the CPLANE1 gene (<a href="/entry/614571">614571</a>) on chromosome 5p13; JBTS18 (<a href="/entry/614815">614815</a>), caused by mutation in the TCTN3 gene (<a href="/entry/613847">613847</a>) on chromosome 10q24; JBTS19 (see <a href="/entry/614844">614844</a>), caused by mutation in the ZNF423 gene (<a href="/entry/604577">604577</a>) on chromosome 16q12; JBTS20 (<a href="/entry/614970">614970</a>), caused by mutation in the TMEM231 gene (<a href="/entry/614949">614949</a>) on chromosome 16q23; JBTS21 (<a href="/entry/615636">615636</a>), caused by mutation in the CSPP1 gene (<a href="/entry/611654">611654</a>) on chromosome 8q13; JBTS22 (<a href="/entry/615665">615665</a>), caused by mutation in the PDE6D gene (<a href="/entry/602676">602676</a>) on chromosome 2q37; JBTS23 (<a href="/entry/616490">616490</a>), caused by mutation in the KIAA0586 gene (<a href="/entry/610178">610178</a>) on chromosome 14q23; JBTS24 (<a href="/entry/616654">616654</a>), caused by mutation in the TCTN2 gene (<a href="/entry/613846">613846</a>) on chromosome 12q24; JBTS25 (<a href="/entry/616781">616781</a>), caused by mutation in the CEP104 gene (<a href="/entry/616690">616690</a>) on chromosome 1p36; JBTS26 (<a href="/entry/616784">616784</a>), caused by mutation in the KATNIP gene (<a href="/entry/616650">616650</a>) on chromosome 16p12; JBTS27 (<a href="/entry/617120">617120</a>), caused by mutation in the B9D1 gene (<a href="/entry/614144">614144</a>) on chromosome 17p11; JBTS28 (<a href="/entry/617121">617121</a>), caused by mutation in the MKS1 gene (<a href="/entry/609883">609883</a>) on chromosome 17q23; JBTS29 (see <a href="/entry/617562">617562</a>), caused by mutation in the TMEM107 gene (<a href="/entry/616183">616183</a>) on chromosome 17p13; JBTS30 (<a href="/entry/617622">617622</a>), caused by mutation in the ARMC9 gene (<a href="/entry/617612">617612</a>) on chromosome 2q37; JBTS31 (<a href="/entry/617761">617761</a>), caused by mutation in the CEP120 gene (<a href="/entry/613446">613446</a>) on chromosome 5q23; JBTS32 (<a href="/entry/617757">617757</a>), caused by mutation in the SUFU gene (<a href="/entry/607035">607035</a>) on chromosome 10q24; JBTS33 (<a href="/entry/617767">617767</a>), caused by mutation in the PIBF1 gene (<a href="/entry/607532">607532</a>) on chromosome 13q21; JBTS34 (see <a href="/entry/614175">614175</a>), caused by mutation in the B9D2 gene (<a href="/entry/611951">611951</a>) on chromosome 19q13; JBTS35 (<a href="/entry/618161">618161</a>), caused by mutation in the ARL3 gene (<a href="/entry/604695">604695</a>) on chromosome 10q24; JBTS36 (<a href="/entry/618763">618763</a>), caused by mutation in the FAM149B1 gene (<a href="/entry/618413">618413</a>) on chromosome 10q22; JBTS37 (<a href="/entry/619185">619185</a>), caused by mutation in the TOGARAM1 gene (<a href="/entry/617618">617618</a>) on chromosome 14q21; JBTS38 (<a href="/entry/619476">619476</a>), caused by mutation in the KIAA0753 gene (<a href="/entry/617112">617112</a>) on chromosome 17p13; JBTS39 (<a href="/entry/619562">619562</a>), caused by mutation in the TMEM218 gene (<a href="/entry/619285">619285</a>) on chromosome 11q24; and JBTS40 (<a href="/entry/619582">619582</a>), caused by mutation in the IFT74 gene (<a href="/entry/608040">608040</a>) on chromosome 9p21.</p>
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<strong>Clinical Features</strong>
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<p><a href="#7" class="mim-tip-reference" title="De Haene, A. &lt;strong&gt;Agenesie partielle du vermis du cervelet a caractere familial.&lt;/strong&gt; Acta Neurol. Psychiat. Belg. 55: 622-628, 1955.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13275283/&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;13275283&lt;/a&gt;]" pmid="13275283">De Haene (1955)</a> collected from the literature 4 cases of total and 7 cases of partial agenesis of the vermis of the cerebellum, and added the only familial example: 3 brothers (1 autopsy) died at ages 4 to 8 years, the illness being characterized by tremor and hypotonia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13275283" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Boltshauser, E., Isler, W. &lt;strong&gt;Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis.&lt;/strong&gt; Neuropadiatrie 8: 57-66, 1977.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/576733/&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;576733&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1055/s-0028-1091505&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="576733">Boltshauser and Isler (1977)</a>, who suggested the designation Joubert syndrome based on the article by <a href="#14" class="mim-tip-reference" title="Joubert, M., Eisenring, J. J., Robb, J. P., Andermann, F. &lt;strong&gt;Familial agenesis of the cerebellar vermis: a syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.&lt;/strong&gt; Neurology 19: 813-825, 1969. Note: Reprinted in J. Child Neurol. 14: 554-564, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5816874/&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;5816874&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.19.9.813&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="5816874">Joubert et al. (1969)</a> (see JBTS17, <a href="/entry/614615">614615</a>), described 3 cases, 2 of them sibs. Detailed neuropathologic findings on 1 of these patients were reported by <a href="#10" class="mim-tip-reference" title="Friede, R. L., Boltshauser, E. &lt;strong&gt;Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome.&lt;/strong&gt; Dev. Med. Child Neurol. 20: 758-763, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/729929/&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;729929&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1469-8749.1978.tb15307.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="729929">Friede and Boltshauser (1978)</a>. <a href="#3" class="mim-tip-reference" title="Boltshauser, E., Herdan, M., Dumermuth, G., Isler, W. &lt;strong&gt;Joubert syndrome: clinical and polygraphic observations in a further case.&lt;/strong&gt; Neuropediatrics 12: 181-191, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7266779/&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;7266779&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1055/s-2008-1059650&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="7266779">Boltshauser et al. (1981)</a> reported 2 affected sisters whose parents were consanguineous. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=729929+7266779+576733+5816874" 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="#8" class="mim-tip-reference" title="Egger, J., Baraitser, M. &lt;strong&gt;Mohr syndrome variant or Joubert-Boltshauser syndrome? (Letter)&lt;/strong&gt; Clin. Genet. 25: 86-87, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6705246/&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;6705246&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1984.tb00470.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6705246">Egger and Baraitser (1984)</a> suggested that the sibs reported by <a href="#12" class="mim-tip-reference" title="Gustavson, K. H., Kreuger, A., Petersen, P. O. &lt;strong&gt;Syndrome characterized by lingual malformation, polydactyly, tachypnea and mental retardation (Mohr syndrome).&lt;/strong&gt; Clin. Genet. 2: 261-266, 1971.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5146584/&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;5146584&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1971.tb00287.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5146584">Gustavson et al. (1971)</a> and by <a href="#13" class="mim-tip-reference" title="Haumont, D., Pelc, S. &lt;strong&gt;The Mohr syndrome: are there two variants?&lt;/strong&gt; Clin. Genet. 24: 41-46, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6352094/&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;6352094&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1983.tb00067.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6352094">Haumont and Pelc (1983)</a> had the Joubert syndrome, not the Mohr syndrome (<a href="/entry/252100">252100</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6705246+5146584+6352094" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Kendall, B., Kingsley, D., Lambert, S. R., Taylor, D., Finn, P. &lt;strong&gt;Joubert syndrome: a clinico-radiological study.&lt;/strong&gt; Neuroradiology 31: 502-506, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2352633/&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;2352633&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00340131&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="2352633">Kendall et al. (1990)</a> reviewed the radiologic findings in 16 consecutive cases. <a href="#6" class="mim-tip-reference" title="Cantani, A., Lucenti, P., Ronzani, G. A., Santoro, C. &lt;strong&gt;Joubert syndrome: review of the fifty-three cases so far published.&lt;/strong&gt; Ann. Genet. 33: 96-98, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2241092/&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;2241092&lt;/a&gt;]" pmid="2241092">Cantani et al. (1990)</a> reviewed 53 published cases. In the children of healthy, consanguineous Turkish parents, <a href="#31" class="mim-tip-reference" title="van Dorp, D. B., Palan, A., Lan Kwee, M., Barth, P. G., van der Harten, J. J. &lt;strong&gt;Joubert syndrome: a clinical and pathological description of an affected male and a female fetus from the same sibship.&lt;/strong&gt; Am. J. Med. Genet. 40: 100-104, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1887836/&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;1887836&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320400121&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="1887836">van Dorp et al. (1991)</a> observed a severely retarded male child with neurologic anomalies including Dandy-Walker malformation, hypoplasia of the corpus callosum, occipital meningoencephalocele, and bilateral coloboma of the optic nerve with retrobulbar cystic mass. The detailed findings at autopsy in an affected female fetus from the mother's second pregnancy were presented. The fetus showed hypognathia, occipital meningoencephalocele, and empty posterior fossa. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2352633+2241092+1887836" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#27" class="mim-tip-reference" title="Squires, L. A., Raymond, G., Neumeyer, A. M., Krishnamoorthy, K. S., Buyse, M. L. &lt;strong&gt;Dysmorphic features of Joubert syndrome.&lt;/strong&gt; Dysmorph. Clin. Genet. 5: 72-77, 1991."None>Squires et al. (1991)</a> described an affected infant, born to nonconsanguineous parents, who had episodic tachypnea, agenesis of the cerebellar vermis, a complex cardiac malformation, cutaneous dimples over the wrists and elbows, telecanthus, and micrognathia.</p><p><a href="#19" class="mim-tip-reference" title="Lindhout, D., Barth, P. G., Valk, J., Boen-Tan, T. N. &lt;strong&gt;The Joubert syndrome associated with bilateral chorioretinal coloboma.&lt;/strong&gt; Europ. J. Pediat. 134: 173-176, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7439204/&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;7439204&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01846041&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="7439204">Lindhout et al. (1980)</a> and <a href="#18" class="mim-tip-reference" title="Laverda, A. M., Saia, O. S., Drigo, P., Danieli, E., Clementi, M., Tenconi, R. &lt;strong&gt;Chorioretinal coloboma and Joubert syndrome: a nonrandom association.&lt;/strong&gt; J. Pediat. 105: 282-284, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6747764/&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;6747764&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(84)80133-x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6747764">Laverda et al. (1984)</a> described associated chorioretinal coloboma (see <a href="/entry/243910">243910</a>). <a href="#25" class="mim-tip-reference" title="Saraiva, J. M., Baraitser, M. &lt;strong&gt;Joubert syndrome: a review.&lt;/strong&gt; Am. J. Med. Genet. 43: 726-731, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1341417/&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;1341417&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320430415&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="1341417">Saraiva and Baraitser (1992)</a> reviewed 72 previously reported patients and 29 new patients with the possible diagnosis of Joubert syndrome. They presented data on 94 patients that fulfilled their criteria and proposed a classification into 2 groups: those with retinal dystrophy and those without. Retinal dystrophy ran true in families and was never absent when renal cysts were reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7439204+6747764+1341417" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Maria, B. L., Boltshauser, E., Palmer, S. C., Tran, T. X. &lt;strong&gt;Clinical features and revised diagnostic criteria in Joubert syndrome.&lt;/strong&gt; J. Child Neurol. 14: 583-591, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10488903/&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;10488903&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1177/088307389901400906&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="10488903">Maria et al. (1999)</a> reviewed the clinical features of Joubert syndrome and provided revised diagnostic criteria. They pointed out that careful examination of the face shows a characteristic appearance: large head, prominent forehead, high rounded eyebrows, epicanthal folds, ptosis (occasionally), upturned nose with evident nostrils, open mouth (the mouth tends to have an oval shape early on, a 'rhomboid' appearance later, and finally can appear triangular with downturned mouth angles), tongue protrusion and rhythmic tongue motions, and occasionally low-set and tilted ears. Neuroophthalmologic examination shows oculomotor apraxia. Most children with this disorder have hyperpnea intermixed with central apnea in the neonatal period. Neuroimaging of the head in the axial plane demonstrates the 'molar tooth sign,' that is, deep posterior interpeduncular fossa, thick and elongated superior cerebellar peduncles, and hypoplastic or aplastic superior cerebellar vermis. See their Table 1 for the proposed revised diagnostic criteria. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10488903" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Fennell, E. B., Gitten, J. C., Dede, D. E., Maria, B. L. &lt;strong&gt;Cognition, behavior, and development in Joubert syndrome.&lt;/strong&gt; J. Child Neurol. 14: 592-596, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10488904/&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;10488904&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1177/088307389901400907&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="10488904">Fennell et al. (1999)</a> reported on cognitive, behavioral, and developmental findings of follow-up studies of Joubert syndrome. The parents' reports of behaviors showed problems with temperament, hyperactivity, aggressiveness, and dependency, as well as problems in physical development and care that were thought to be related to the neurologic handicaps. Parents' reports of developmental attainments revealed that only 3 of 40 children were functioning in the borderline range, with the rest scoring in the severely impaired range. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10488904" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The studies reported by <a href="#32" class="mim-tip-reference" title="Yachnis, A. T., Rorke, L. B. &lt;strong&gt;Neuropathology of Joubert syndrome.&lt;/strong&gt; J. Child Neurol. 14: 655-659, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10511338/&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;10511338&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1177/088307389901401006&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="10511338">Yachnis and Rorke (1999)</a> suggested that, in addition to vermal agenesis, Joubert syndrome is characterized by malformation of multiple brainstem structures. The latter could explain certain clinical features of the syndrome, including episodic hyperpnea and oculomotor apraxia. Brainstem malformation is represented by the 'molar tooth sign' on magnetic resonance imaging (<a href="#20" class="mim-tip-reference" title="Maria, B. L., Boltshauser, E., Palmer, S. C., Tran, T. X. &lt;strong&gt;Clinical features and revised diagnostic criteria in Joubert syndrome.&lt;/strong&gt; J. Child Neurol. 14: 583-591, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10488903/&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;10488903&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1177/088307389901400906&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="10488903">Maria et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10488903+10511338" 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="#23" class="mim-tip-reference" title="Raynes, H. R., Shanske, A., Goldberg, S., Burde, R., Rapin, I. &lt;strong&gt;Joubert syndrome: monozygotic twins with discordant phenotypes.&lt;/strong&gt; J. Child Neurol. 14: 649-654, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10511337/&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;10511337&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1177/088307389901401005&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="10511337">Raynes et al. (1999)</a> described 3 sisters with Joubert syndrome, 2 of whom were monozygotic twins with highly discordant phenotypes. The twins were born at 34 weeks' gestation with discordant birth weights. Their anatomic, neurologic, and developmental status also differed greatly: twin B was able to walk and run, and was verbal, unlike twin A who was wheelchair-bound, severely retarded, nonverbal, and autistic. Abnormal eye movements and retinal dysplasia were features in all 3 girls, but none had renal cysts demonstrable by ultrasonography. Magnetic resonance images showed the 'molar tooth sign,' the radiologic hallmark of Joubert syndrome, although only 1 twin, the more severely handicapped, had severe hypoplasia of the cerebellar hemispheres. <a href="#23" class="mim-tip-reference" title="Raynes, H. R., Shanske, A., Goldberg, S., Burde, R., Rapin, I. &lt;strong&gt;Joubert syndrome: monozygotic twins with discordant phenotypes.&lt;/strong&gt; J. Child Neurol. 14: 649-654, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10511337/&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;10511337&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1177/088307389901401005&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="10511337">Raynes et al. (1999)</a> discussed the basis for the phenotypic discordance in the twins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10511337" 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="#29" class="mim-tip-reference" title="Valente, E. M., Marsh, S. E., Castori, M., Dixon-Salazar, T., Bertini, E., Al-Gazali, L., Messer, J., Barbot, C., Woods, C. G., Boltshauser, E., Al-Tawari, A. A., Salpietro, C. D., Kayserili, H., Sztriha, L., Gribaa, M., Koenig, M., Dallapiccola, B., Gleeson, J. G. &lt;strong&gt;Distinguishing the four genetic causes of Joubert syndrome-related disorders.&lt;/strong&gt; Ann. Neurol. 57: 513-519, 2005. Note: Erratum: Ann. Neurol. 57: 934 only, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15786477/&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;15786477&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.20422&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="15786477">Valente et al. (2005)</a> reported 2 families with Joubert syndrome linked to chromosome 9q (JBTS1). In a family of Italian origin, 2 sibs had hypotonia that evolved into ataxia, marked oculomotor apraxia, and moderate visual reduction with mild pigmentary changes. Intelligence and kidney function were normal in both patients. In the second family, originating from Oman, an affected child had a typical neurologic phenotype with mental retardation, but no breathing dysregulation. Fundus exam and kidney function were normal. All of these patients had the molar tooth sign on MRI. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15786477" 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 retrospective review of midsagittal T1-weighted brain MRI studies of 20 patients with Joubert syndrome ranging in age from 18 days to 23 years, <a href="#26" class="mim-tip-reference" title="Spampinato, M. V., Kraas, J., Maria, B. L., Walton, Z. J., Rumboldt, Z. &lt;strong&gt;Absence of decussation of the superior cerebellar peduncles in patients with Joubert syndrome.&lt;/strong&gt; Am. J. Med. Genet. 146A: 1389-1394, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18412277/&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;18412277&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32282&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="18412277">Spampinato et al. (2008)</a> found absence of decussation of the superior cerebellar peduncles in all 6 patients over 30 months of age. Decussation was well seen on brain scans of 16 healthy controls over 30 months of age, but could not be visualized in any individuals, healthy or patients, under 30 months of age. <a href="#26" class="mim-tip-reference" title="Spampinato, M. V., Kraas, J., Maria, B. L., Walton, Z. J., Rumboldt, Z. &lt;strong&gt;Absence of decussation of the superior cerebellar peduncles in patients with Joubert syndrome.&lt;/strong&gt; Am. J. Med. Genet. 146A: 1389-1394, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18412277/&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;18412277&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32282&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="18412277">Spampinato et al. (2008)</a> concluded that the lack of superior cerebellar commissural fibers in Joubert syndrome accounted in part for the classic molar tooth sign observed in patients with the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18412277" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Braddock, S. R., Henley, K. M., Maria, B. L. &lt;strong&gt;The face of Joubert syndrome: a study of dysmorphology and anthropometry.&lt;/strong&gt; Am. J. Med. Genet. 143A: 3235-3242, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18000967/&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;18000967&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32099&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="18000967">Braddock et al. (2007)</a> analyzed the dysmorphic facial features of 34 children and young adults with Joubert syndrome who were not classified by molecular analysis. Findings included long face, frontal prominence, bitemporal narrowing, ptosis, prominent nasal bridge and tip, prognathism, eyebrow abnormalities, trapezoid-shaped mouth, lower lip eversion, and thick ear lobes. Anthropometric analysis showed several significant differences in measurements including bizygomatic, frontal, nasal, and mandibular dimensions. Facial characteristics appeared to become more distinct with age. Despite these findings, <a href="#5" class="mim-tip-reference" title="Braddock, S. R., Henley, K. M., Maria, B. L. &lt;strong&gt;The face of Joubert syndrome: a study of dysmorphology and anthropometry.&lt;/strong&gt; Am. J. Med. Genet. 143A: 3235-3242, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18000967/&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;18000967&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32099&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="18000967">Braddock et al. (2007)</a> noted that there was extreme variability likely resulting from genetic heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18000967" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
<a id="mapping" class="mim-anchor"></a>
<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Mapping</strong>
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<p>To localize the region responsible for Joubert syndrome, <a href="#24" class="mim-tip-reference" title="Saar, K., Al-Gazali, L., Sztriha, L., Rueschendorf, F., Nur-E-Kamal, M., Reis, A., Bayoumi, R. &lt;strong&gt;Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity.&lt;/strong&gt; Am. J. Hum. Genet. 65: 1666-1671, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10577920/&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;10577920&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=10577920[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/10.1086/302655&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="10577920">Saar et al. (1999)</a> performed a whole-genome scan in 2 consanguineous families of Arabian-Iranian origins with multiple affected members. In 1 family of Omani origin (<a href="#28" class="mim-tip-reference" title="Sztriha, L., Al-Gazali, L. I., Aithala, G. R., Nork, M. &lt;strong&gt;Joubert&#x27;s syndrome: new cases and review of clinicopathologic correlation.&lt;/strong&gt; Pediat. Neurol. 20: 274-281, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10328276/&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;10328276&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0887-8994(98)00154-4&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="10328276">Sztriha et al., 1999</a>), <a href="#24" class="mim-tip-reference" title="Saar, K., Al-Gazali, L., Sztriha, L., Rueschendorf, F., Nur-E-Kamal, M., Reis, A., Bayoumi, R. &lt;strong&gt;Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity.&lt;/strong&gt; Am. J. Hum. Genet. 65: 1666-1671, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10577920/&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;10577920&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=10577920[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/10.1086/302655&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="10577920">Saar et al. (1999)</a> detected linkage to the telomeric region of 9q, close to marker D9S158, with a multipoint lod score of Z = 3.7. The second family did not show linkage to this region, giving the first indication of genetic heterogeneity underlying Joubert syndrome. These findings were supported by subsequent analysis of 2 smaller families, one compatible with linkage to 9q34.3 and the other unlinked. The locus on 9q34.3 is referred to as JBTS1. <a href="#29" class="mim-tip-reference" title="Valente, E. M., Marsh, S. E., Castori, M., Dixon-Salazar, T., Bertini, E., Al-Gazali, L., Messer, J., Barbot, C., Woods, C. G., Boltshauser, E., Al-Tawari, A. A., Salpietro, C. D., Kayserili, H., Sztriha, L., Gribaa, M., Koenig, M., Dallapiccola, B., Gleeson, J. G. &lt;strong&gt;Distinguishing the four genetic causes of Joubert syndrome-related disorders.&lt;/strong&gt; Ann. Neurol. 57: 513-519, 2005. Note: Erratum: Ann. Neurol. 57: 934 only, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15786477/&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;15786477&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ana.20422&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="15786477">Valente et al. (2005)</a> reported 2 additional affected female twins from 1 of the families reported by <a href="#24" class="mim-tip-reference" title="Saar, K., Al-Gazali, L., Sztriha, L., Rueschendorf, F., Nur-E-Kamal, M., Reis, A., Bayoumi, R. &lt;strong&gt;Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity.&lt;/strong&gt; Am. J. Hum. Genet. 65: 1666-1671, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10577920/&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;10577920&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=10577920[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/10.1086/302655&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="10577920">Saar et al. (1999)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10328276+15786477+10577920" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Heterogeneity</em></strong></p><p>
<a href="#2" class="mim-tip-reference" title="Blair, I. P., Gibson, R. R., Bennett, C. L., Chance, P. F. &lt;strong&gt;Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1.&lt;/strong&gt; Am. J. Med. Genet. 107: 190-196, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11807898/&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;11807898&lt;/a&gt;]" pmid="11807898">Blair et al. (2002)</a> investigated a cohort of apparently unrelated North American Joubert syndrome pedigrees for association with the 9q34 and 17p11.2 loci that had previously been implicated and excluded these 2 loci in all cases where data were informative. Analysis of an additional 21 unrelated JBTS patients showed no evidence of homozygosity at the 9q34 and 17p11.2 loci that would suggest inheritance of founder JBTS mutations or unreported consanguinity. Together, these data suggested that one or more major loci for JBTS remained to be identified. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11807898" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="cytogenetics" class="mim-anchor"></a>
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<p><a href="#21" class="mim-tip-reference" title="Natacci, F., Corrado, L., Pierri, M., Rossetti, M., Zuccarini, C., Riva, P., Miozzo, M., Larizza, L. &lt;strong&gt;Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype.&lt;/strong&gt; Am. J. Med. Genet. 95: 467-472, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11146468/&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;11146468&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/1096-8628(20001218)95:5&lt;467::aid-ajmg11&gt;3.0.co;2-t&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="11146468">Natacci et al. (2000)</a> reported a 22-year-old woman with a deletion in the short arm of chromosome 17 who presented with the clinical manifestations of both Smith-Magenis syndrome (SMS; <a href="/entry/182290">182290</a>) and Joubert syndrome. Facial anomalies, brachydactyly, severe mental retardation, and self-injuring behavior were attributed to SMS, whereas the cerebellar vermis hypoplasia, hypotonia, ataxic gait, developmental delay, and abnormal respiratory pattern suggested Joubert syndrome. By fluorescence in situ hybridization analyses with YAC mapping to the 17p11.2 region, as well as locus-specific probes generated through a novel procedure, they established that the deletion encompasses a 4-Mb interval. The deletion differed from that commonly found in SMS in its telomeric boundary, and was more distal than usually observed. The presence of the Joubert syndrome phenotype in this patient and the detection of an unusual SMS deletion suggested the presence of a Joubert syndrome gene in close proximity to the SMS locus. Although Joubert syndrome has been linked to 9q34.3 in some families, no linkage to this area has been demonstrated in other families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11146468" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="inheritance" class="mim-anchor"></a>
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<p>The transmission pattern of Joubert syndrome-1 in the families reported by <a href="#1" class="mim-tip-reference" title="Bielas, S. L., Silhavy, J. L., Brancati, F., Kisseleva, M. V., Al-Gazali, L., Sztriha, L., Bayoumi, R. A., Zaki, M. S., Abdel-Aleem, A., Rosti, R. O., Kayserili, H., Swistun, D., and 13 others. &lt;strong&gt;Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.&lt;/strong&gt; Nature Genet. 41: 1032-1036, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19668216/&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;19668216&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19668216[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/10.1038/ng.423&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="19668216">Bielas et al. (2009)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19668216" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 7 families with Joubert syndrome, <a href="#1" class="mim-tip-reference" title="Bielas, S. L., Silhavy, J. L., Brancati, F., Kisseleva, M. V., Al-Gazali, L., Sztriha, L., Bayoumi, R. A., Zaki, M. S., Abdel-Aleem, A., Rosti, R. O., Kayserili, H., Swistun, D., and 13 others. &lt;strong&gt;Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.&lt;/strong&gt; Nature Genet. 41: 1032-1036, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19668216/&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;19668216&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19668216[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/10.1038/ng.423&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="19668216">Bielas et al. (2009)</a> identified 5 different homozygous mutations in the INPP5E gene (see, e.g., <a href="/entry/613037#0002">613037.0002</a>-<a href="/entry/613037#0005">613037.0005</a>). Three families were from the United Arab Emirates, 1 from Turkey, 1 from Egypt, and 2 from Italy. All of the mutations were in the catalytic domain of the protein, and all mutant proteins showed decreased phosphatase activity. The findings implied a link between PtdIns signaling and ciliopathies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19668216" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
For discussion of a possible association between Joubert syndrome and mutation in the PDPR gene, see <a href="/entry/617835#0001">617835.0001</a>.</p><p><strong><em>Exclusion Studies</em></strong></p><p>
Because of its expression in the developing cerebellum and because of an associated mutation of Wnt1 in the 'swaying' mouse, <a href="#22" class="mim-tip-reference" title="Pellegrino, J. E., Lensch, M. W., Muenke, M., Chance, P. F. &lt;strong&gt;Clinical and molecular analysis in Joubert syndrome.&lt;/strong&gt; Am. J. Med. Genet. 72: 59-62, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9295076/&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;9295076&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19971003)72:1&lt;59::aid-ajmg12&gt;3.0.co;2-t&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="9295076">Pellegrino et al. (1997)</a> evaluated the WNT1 gene (<a href="/entry/164820">164820</a>) as a candidate gene for Joubert syndrome. The investigators ascertained a cohort of 50 patients with Joubert syndrome to evaluate the presence of associated malformations and to initiate studies leading to the identification of the responsible gene. Only 8% of patients had polydactyly, 4% had colobomas, 2% had renal cysts, and 2% had soft tissue tumors of the tongue. No mutations of the WNT1 gene were found in the patients of the cohort. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9295076" 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="Blair, I. P., Gibson, R. R., Bennett, C. L., Chance, P. F. &lt;strong&gt;Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1.&lt;/strong&gt; Am. J. Med. Genet. 107: 190-196, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11807898/&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;11807898&lt;/a&gt;]" pmid="11807898">Blair et al. (2002)</a> undertook mutation analysis of several functional candidate genes in a total of 26 unrelated JBTS patients and excluded EN1 (<a href="/entry/131290">131290</a>), EN2 (<a href="/entry/131310">131310</a>), and FGF8 (<a href="/entry/600483">600483</a>) from a direct pathogenic role in JBTS. The BARHL1 gene (<a href="/entry/605211">605211</a>), which localizes to 9q34 and had previously been proposed as a strong positional candidate gene for JBTS, was also investigated and excluded from involvement in JBTS that is linked to 9q34. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11807898" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 sibs and 1 unrelated patient with Joubert syndrome, <a href="#11" class="mim-tip-reference" title="Gould, D. B., Walter, M. A. &lt;strong&gt;Mutational analysis of BARHL1 and BARX1 in three new patients with Joubert syndrome. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 131A: 205-208, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15487006/&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;15487006&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30227&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="15487006">Gould and Walter (2004)</a> demonstrated no abnormality of the BARHL1 gene or the BARX1 gene (<a href="/entry/603260">603260</a>) on 9q12. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15487006" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Modifier Genes</em></strong></p><p>
<a href="#17" class="mim-tip-reference" title="Khanna, H., Davis, E. E., Murga-Zamalloa, C. A., Estrada-Cuzcano, A., Lopez, I., den Hollander, A. I., Zonneveld, M. N., Othman, M. I., Waseem, N., Chakarova, C. F., Maubaret, C., Diaz-Font, A., and 22 others. &lt;strong&gt;A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.&lt;/strong&gt; Nature Genet. 41: 739-745, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19430481/&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;19430481&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=19430481[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/10.1038/ng.366&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="19430481">Khanna et al. (2009)</a> presented evidence that a common allele in the RPGRIP1L gene (A229T; <a href="/entry/610937#0013">610937.0013</a>) may be a modifier of retinal degeneration in patients with ciliopathies due to other mutations, including JBTS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19430481" 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="#30" class="mim-tip-reference" title="Valente, E. M., Salpietro, D. C., Brancati, F., Bertini, E., Galluccio, T., Tortorella, G., Briuglia, S., Dallapiccola, B. &lt;strong&gt;Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation.&lt;/strong&gt; Am. J. Hum. Genet. 73: 663-670, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12908130/&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;12908130&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=12908130[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/10.1086/378241&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="12908130">Valente et al. (2003)</a> used the designation cerebellooculorenal syndromes (CORSs) for the clinically and genetically heterogeneous autosomal recessive syndromes, including Joubert syndrome, that share a complex neuroradiologic malformation resembling a molar tooth on brain axial images. They described a consanguineous Sicilian family showing linkage of a cerebellooculorenal syndrome (without ocular involvement except nystagmus), showing linkage to the pericentromeric region of chromosome 11. <a href="#30" class="mim-tip-reference" title="Valente, E. M., Salpietro, D. C., Brancati, F., Bertini, E., Galluccio, T., Tortorella, G., Briuglia, S., Dallapiccola, B. &lt;strong&gt;Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation.&lt;/strong&gt; Am. J. Hum. Genet. 73: 663-670, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12908130/&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;12908130&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=12908130[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/10.1086/378241&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="12908130">Valente et al. (2003)</a> and <a href="#15" class="mim-tip-reference" title="Keeler, L. C., Marsh, S. E., Leeflang, E. P., Woods, C. G., Sztriha, L., Al-Gazali, L., Gururaj, A., Gleeson, J. G. &lt;strong&gt;Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.&lt;/strong&gt; Am. J. Hum. Genet. 73: 656-662, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12917796/&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;12917796&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=12917796[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/10.1086/378206&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="12917796">Keeler et al. (2003)</a> proposed that the locus be called CORS2 (<a href="/entry/608091">608091</a>), with CORS1 suggested as an alternative designation for the JBTS1 locus on 9q34. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12917796+12908130" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="history" class="mim-anchor"></a>
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<strong>History</strong>
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<p>The classic article by <a href="#14" class="mim-tip-reference" title="Joubert, M., Eisenring, J. J., Robb, J. P., Andermann, F. &lt;strong&gt;Familial agenesis of the cerebellar vermis: a syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.&lt;/strong&gt; Neurology 19: 813-825, 1969. Note: Reprinted in J. Child Neurol. 14: 554-564, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5816874/&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;5816874&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1212/wnl.19.9.813&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="5816874">Joubert et al. (1969)</a> was reprinted with a cluster of papers on this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5816874" 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="Bielas2009" class="mim-anchor"></a>
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Bielas, S. L., Silhavy, J. L., Brancati, F., Kisseleva, M. V., Al-Gazali, L., Sztriha, L., Bayoumi, R. A., Zaki, M. S., Abdel-Aleem, A., Rosti, R. O., Kayserili, H., Swistun, D., and 13 others.
<strong>Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.</strong>
Nature Genet. 41: 1032-1036, 2009.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19668216/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19668216</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19668216[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=19668216" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/ng.423" target="_blank">Full Text</a>]
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<a id="Blair2002" class="mim-anchor"></a>
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<p class="mim-text-font">
Blair, I. P., Gibson, R. R., Bennett, C. L., Chance, P. F.
<strong>Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1.</strong>
Am. J. Med. Genet. 107: 190-196, 2002.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11807898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11807898</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11807898" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Boltshauser1981" class="mim-anchor"></a>
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Boltshauser, E., Herdan, M., Dumermuth, G., Isler, W.
<strong>Joubert syndrome: clinical and polygraphic observations in a further case.</strong>
Neuropediatrics 12: 181-191, 1981.
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[<a href="https://doi.org/10.1055/s-2008-1059650" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
<a id="Boltshauser1977" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Boltshauser, E., Isler, W.
<strong>Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis.</strong>
Neuropadiatrie 8: 57-66, 1977.
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[<a href="https://doi.org/10.1055/s-0028-1091505" target="_blank">Full Text</a>]
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Braddock, S. R., Henley, K. M., Maria, B. L.
<strong>The face of Joubert syndrome: a study of dysmorphology and anthropometry.</strong>
Am. J. Med. Genet. 143A: 3235-3242, 2007.
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[<a href="https://doi.org/10.1002/ajmg.a.32099" target="_blank">Full Text</a>]
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Cantani, A., Lucenti, P., Ronzani, G. A., Santoro, C.
<strong>Joubert syndrome: review of the fifty-three cases so far published.</strong>
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De Haene, A.
<strong>Agenesie partielle du vermis du cervelet a caractere familial.</strong>
Acta Neurol. Psychiat. Belg. 55: 622-628, 1955.
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<strong>Mohr syndrome variant or Joubert-Boltshauser syndrome? (Letter)</strong>
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[<a href="https://doi.org/10.1111/j.1399-0004.1984.tb00470.x" target="_blank">Full Text</a>]
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<a id="Fennell1999" class="mim-anchor"></a>
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Fennell, E. B., Gitten, J. C., Dede, D. E., Maria, B. L.
<strong>Cognition, behavior, and development in Joubert syndrome.</strong>
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[<a href="https://doi.org/10.1177/088307389901400907" target="_blank">Full Text</a>]
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<a id="Friede1978" class="mim-anchor"></a>
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Friede, R. L., Boltshauser, E.
<strong>Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome.</strong>
Dev. Med. Child Neurol. 20: 758-763, 1978.
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[<a href="https://doi.org/10.1111/j.1469-8749.1978.tb15307.x" target="_blank">Full Text</a>]
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<a id="Gould2004" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gould, D. B., Walter, M. A.
<strong>Mutational analysis of BARHL1 and BARX1 in three new patients with Joubert syndrome. (Letter)</strong>
Am. J. Med. Genet. 131A: 205-208, 2004.
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[<a href="https://doi.org/10.1002/ajmg.a.30227" target="_blank">Full Text</a>]
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<a id="Gustavson1971" class="mim-anchor"></a>
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Gustavson, K. H., Kreuger, A., Petersen, P. O.
<strong>Syndrome characterized by lingual malformation, polydactyly, tachypnea and mental retardation (Mohr syndrome).</strong>
Clin. Genet. 2: 261-266, 1971.
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[<a href="https://doi.org/10.1111/j.1399-0004.1971.tb00287.x" target="_blank">Full Text</a>]
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Haumont, D., Pelc, S.
<strong>The Mohr syndrome: are there two variants?</strong>
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[<a href="https://doi.org/10.1111/j.1399-0004.1983.tb00067.x" target="_blank">Full Text</a>]
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<a id="14" class="mim-anchor"></a>
<a id="Joubert1969" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Joubert, M., Eisenring, J. J., Robb, J. P., Andermann, F.
<strong>Familial agenesis of the cerebellar vermis: a syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.</strong>
Neurology 19: 813-825, 1969. Note: Reprinted in J. Child Neurol. 14: 554-564, 1999.
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[<a href="https://doi.org/10.1212/wnl.19.9.813" target="_blank">Full Text</a>]
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<a id="Keeler2003" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Keeler, L. C., Marsh, S. E., Leeflang, E. P., Woods, C. G., Sztriha, L., Al-Gazali, L., Gururaj, A., Gleeson, J. G.
<strong>Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.</strong>
Am. J. Hum. Genet. 73: 656-662, 2003.
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[<a href="https://doi.org/10.1086/378206" target="_blank">Full Text</a>]
</p>
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<a id="16" class="mim-anchor"></a>
<a id="Kendall1990" class="mim-anchor"></a>
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Kendall, B., Kingsley, D., Lambert, S. R., Taylor, D., Finn, P.
<strong>Joubert syndrome: a clinico-radiological study.</strong>
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[<a href="https://doi.org/10.1007/BF00340131" target="_blank">Full Text</a>]
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<a id="Khanna2009" class="mim-anchor"></a>
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Khanna, H., Davis, E. E., Murga-Zamalloa, C. A., Estrada-Cuzcano, A., Lopez, I., den Hollander, A. I., Zonneveld, M. N., Othman, M. I., Waseem, N., Chakarova, C. F., Maubaret, C., Diaz-Font, A., and 22 others.
<strong>A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.</strong>
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[<a href="https://doi.org/10.1038/ng.366" target="_blank">Full Text</a>]
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<a id="Laverda1984" class="mim-anchor"></a>
<div class="">
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Laverda, A. M., Saia, O. S., Drigo, P., Danieli, E., Clementi, M., Tenconi, R.
<strong>Chorioretinal coloboma and Joubert syndrome: a nonrandom association.</strong>
J. Pediat. 105: 282-284, 1984.
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[<a href="https://doi.org/10.1016/s0022-3476(84)80133-x" target="_blank">Full Text</a>]
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<a id="Lindhout1980" class="mim-anchor"></a>
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Lindhout, D., Barth, P. G., Valk, J., Boen-Tan, T. N.
<strong>The Joubert syndrome associated with bilateral chorioretinal coloboma.</strong>
Europ. J. Pediat. 134: 173-176, 1980.
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[<a href="https://doi.org/10.1007/BF01846041" target="_blank">Full Text</a>]
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<a id="Maria1999" class="mim-anchor"></a>
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Maria, B. L., Boltshauser, E., Palmer, S. C., Tran, T. X.
<strong>Clinical features and revised diagnostic criteria in Joubert syndrome.</strong>
J. Child Neurol. 14: 583-591, 1999.
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[<a href="https://doi.org/10.1177/088307389901400906" target="_blank">Full Text</a>]
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<a id="Natacci2000" class="mim-anchor"></a>
<div class="">
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Natacci, F., Corrado, L., Pierri, M., Rossetti, M., Zuccarini, C., Riva, P., Miozzo, M., Larizza, L.
<strong>Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype.</strong>
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[<a href="https://doi.org/10.1002/1096-8628(20001218)95:5&lt;467::aid-ajmg11&gt;3.0.co;2-t" target="_blank">Full Text</a>]
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Pellegrino, J. E., Lensch, M. W., Muenke, M., Chance, P. F.
<strong>Clinical and molecular analysis in Joubert syndrome.</strong>
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[<a href="https://doi.org/10.1002/(sici)1096-8628(19971003)72:1&lt;59::aid-ajmg12&gt;3.0.co;2-t" target="_blank">Full Text</a>]
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<a id="Raynes1999" class="mim-anchor"></a>
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Raynes, H. R., Shanske, A., Goldberg, S., Burde, R., Rapin, I.
<strong>Joubert syndrome: monozygotic twins with discordant phenotypes.</strong>
J. Child Neurol. 14: 649-654, 1999.
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[<a href="https://doi.org/10.1177/088307389901401005" target="_blank">Full Text</a>]
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<a id="Saar1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Saar, K., Al-Gazali, L., Sztriha, L., Rueschendorf, F., Nur-E-Kamal, M., Reis, A., Bayoumi, R.
<strong>Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity.</strong>
Am. J. Hum. Genet. 65: 1666-1671, 1999.
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[<a href="https://doi.org/10.1086/302655" target="_blank">Full Text</a>]
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<a id="Saraiva1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Saraiva, J. M., Baraitser, M.
<strong>Joubert syndrome: a review.</strong>
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[<a href="https://doi.org/10.1002/ajmg.1320430415" target="_blank">Full Text</a>]
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<a id="Spampinato2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Spampinato, M. V., Kraas, J., Maria, B. L., Walton, Z. J., Rumboldt, Z.
<strong>Absence of decussation of the superior cerebellar peduncles in patients with Joubert syndrome.</strong>
Am. J. Med. Genet. 146A: 1389-1394, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18412277/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18412277</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18412277" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.32282" target="_blank">Full Text</a>]
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<a id="Squires1991" class="mim-anchor"></a>
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Squires, L. A., Raymond, G., Neumeyer, A. M., Krishnamoorthy, K. S., Buyse, M. L.
<strong>Dysmorphic features of Joubert syndrome.</strong>
Dysmorph. Clin. Genet. 5: 72-77, 1991.
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<a id="28" class="mim-anchor"></a>
<a id="Sztriha1999" class="mim-anchor"></a>
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Sztriha, L., Al-Gazali, L. I., Aithala, G. R., Nork, M.
<strong>Joubert's syndrome: new cases and review of clinicopathologic correlation.</strong>
Pediat. Neurol. 20: 274-281, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10328276/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10328276</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10328276" 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/s0887-8994(98)00154-4" target="_blank">Full Text</a>]
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<a id="Valente2005" class="mim-anchor"></a>
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Valente, E. M., Marsh, S. E., Castori, M., Dixon-Salazar, T., Bertini, E., Al-Gazali, L., Messer, J., Barbot, C., Woods, C. G., Boltshauser, E., Al-Tawari, A. A., Salpietro, C. D., Kayserili, H., Sztriha, L., Gribaa, M., Koenig, M., Dallapiccola, B., Gleeson, J. G.
<strong>Distinguishing the four genetic causes of Joubert syndrome-related disorders.</strong>
Ann. Neurol. 57: 513-519, 2005. Note: Erratum: Ann. Neurol. 57: 934 only, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15786477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15786477</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15786477" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ana.20422" target="_blank">Full Text</a>]
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<a id="Valente2003" class="mim-anchor"></a>
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Valente, E. M., Salpietro, D. C., Brancati, F., Bertini, E., Galluccio, T., Tortorella, G., Briuglia, S., Dallapiccola, B.
<strong>Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation.</strong>
Am. J. Hum. Genet. 73: 663-670, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12908130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12908130</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12908130[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=12908130" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/378241" target="_blank">Full Text</a>]
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<a id="van Dorp1991" class="mim-anchor"></a>
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van Dorp, D. B., Palan, A., Lan Kwee, M., Barth, P. G., van der Harten, J. J.
<strong>Joubert syndrome: a clinical and pathological description of an affected male and a female fetus from the same sibship.</strong>
Am. J. Med. Genet. 40: 100-104, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1887836/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1887836</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1887836" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320400121" target="_blank">Full Text</a>]
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<a id="Yachnis1999" class="mim-anchor"></a>
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Yachnis, A. T., Rorke, L. B.
<strong>Neuropathology of Joubert syndrome.</strong>
J. Child Neurol. 14: 655-659, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10511338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10511338</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10511338" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1177/088307389901401006" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 02/03/2020<br>Cassandra L. Kniffin - updated : 1/11/2012<br>Cassandra L. Kniffin - updated : 9/29/2009<br>Cassandra L. Kniffin - updated : 6/15/2009<br>Cassandra L. Kniffin - updated : 1/12/2009<br>Cassandra L. Kniffin - updated : 9/3/2008<br>Cassandra L. Kniffin - updated : 7/9/2008<br>Cassandra L. Kniffin - updated : 9/15/2005<br>Victor A. McKusick - updated : 1/20/2005<br>Victor A. McKusick - updated : 9/10/2004<br>Victor A. McKusick - updated : 6/10/2004<br>Victor A. McKusick - updated : 9/5/2003<br>Victor A. McKusick - updated : 1/30/2002<br>Victor A. McKusick - updated : 2/11/2000<br>Victor A. McKusick - updated : 12/17/1999<br>Victor A. McKusick - updated : 12/7/1999
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Victor A. McKusick : 6/3/1986
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<strong>#</strong> 213300
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JOUBERT SYNDROME 1; JBTS1
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<em>Alternative titles; symbols</em>
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JOUBERT SYNDROME; JBTS<br />
JOUBERT-BOLTSHAUSER SYNDROME<br />
CEREBELLOPARENCHYMAL DISORDER IV; CPD4<br />
CEREBELLOOCULORENAL SYNDROME 1; CORS1
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<strong>SNOMEDCT:</strong> 253175003, 716997004; &nbsp;
<strong>ORPHA:</strong> 475; &nbsp;
<strong>DO:</strong> 0110980; &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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9q34.3
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Joubert syndrome 1
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213300
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Autosomal recessive
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3
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INPP5E
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613037
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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-1 (JBTS1) is caused by homozygous mutation in the INPP5E gene (613037) on chromosome 9q34.</p>
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<strong>Description</strong>
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<p>Joubert syndrome is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic 'molar tooth sign,' and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. Other variable features include retinal dystrophy and renal anomalies (Saraiva and Baraitser, 1992; Valente et al., 2005). </p><p><strong><em>Genetic Heterogeneity of Joubert Syndrome</em></strong></p><p>
See also JBTS2 (608091), caused by mutation in the TMEM216 gene (613277) on chromosome 11q13; JBTS3 (608629), caused by mutation in the AHI1 gene (608894) on chromosome 6q23; JBTS4 (609583), caused by mutation in the NPHP1 gene (607100) on chromosome 2q13; JBTS5 (610188), caused by mutation in the CEP290 gene, also called NPHP6 (610142), on chromosome 12q21; JBTS6 (610688), caused by mutation in the TMEM67 gene (609884) on chromosome 8q21; JBTS7 (611560), caused by mutation in the RPGRIP1L gene (610937) on chromosome 16q12; JBTS8 (612291), caused by mutation in the ARL13B (608922) on chromosome 3q11; JBTS9 (612285), caused by mutation in the CC2D2A gene (612013) on chromosome 4p15; JBTS10 (300804), caused by mutation in the CXORF5 gene (300170) on chromosome Xp22; JBTS11 (see 613820), caused by mutation in the TTC21B gene (612014) on chromosome 2q24; JBTS12 (see 200990), caused by mutation in the KIF7 gene (611254) on chromosome 15q26; JBTS13 (614173), caused by mutation in the TCTN1 gene (609863) on chromosome 12q24; JBTS14 (614424), caused by mutation in the TMEM237 gene (614423) on chromosome 2q33; JBTS15 (614464), caused by mutation in the CEP41 gene (610523) on chromosome 7q32; JBTS16 (614465), caused by mutation in the TMEM138 gene (614459) on chromosome 11q; JBTS17 (614615), caused by mutation in the CPLANE1 gene (614571) on chromosome 5p13; JBTS18 (614815), caused by mutation in the TCTN3 gene (613847) on chromosome 10q24; JBTS19 (see 614844), caused by mutation in the ZNF423 gene (604577) on chromosome 16q12; JBTS20 (614970), caused by mutation in the TMEM231 gene (614949) on chromosome 16q23; JBTS21 (615636), caused by mutation in the CSPP1 gene (611654) on chromosome 8q13; JBTS22 (615665), caused by mutation in the PDE6D gene (602676) on chromosome 2q37; JBTS23 (616490), caused by mutation in the KIAA0586 gene (610178) on chromosome 14q23; JBTS24 (616654), caused by mutation in the TCTN2 gene (613846) on chromosome 12q24; JBTS25 (616781), caused by mutation in the CEP104 gene (616690) on chromosome 1p36; JBTS26 (616784), caused by mutation in the KATNIP gene (616650) on chromosome 16p12; JBTS27 (617120), caused by mutation in the B9D1 gene (614144) on chromosome 17p11; JBTS28 (617121), caused by mutation in the MKS1 gene (609883) on chromosome 17q23; JBTS29 (see 617562), caused by mutation in the TMEM107 gene (616183) on chromosome 17p13; JBTS30 (617622), caused by mutation in the ARMC9 gene (617612) on chromosome 2q37; JBTS31 (617761), caused by mutation in the CEP120 gene (613446) on chromosome 5q23; JBTS32 (617757), caused by mutation in the SUFU gene (607035) on chromosome 10q24; JBTS33 (617767), caused by mutation in the PIBF1 gene (607532) on chromosome 13q21; JBTS34 (see 614175), caused by mutation in the B9D2 gene (611951) on chromosome 19q13; JBTS35 (618161), caused by mutation in the ARL3 gene (604695) on chromosome 10q24; JBTS36 (618763), caused by mutation in the FAM149B1 gene (618413) on chromosome 10q22; JBTS37 (619185), caused by mutation in the TOGARAM1 gene (617618) on chromosome 14q21; JBTS38 (619476), caused by mutation in the KIAA0753 gene (617112) on chromosome 17p13; JBTS39 (619562), caused by mutation in the TMEM218 gene (619285) on chromosome 11q24; and JBTS40 (619582), caused by mutation in the IFT74 gene (608040) on chromosome 9p21.</p>
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<strong>Clinical Features</strong>
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<p>De Haene (1955) collected from the literature 4 cases of total and 7 cases of partial agenesis of the vermis of the cerebellum, and added the only familial example: 3 brothers (1 autopsy) died at ages 4 to 8 years, the illness being characterized by tremor and hypotonia. </p><p>Boltshauser and Isler (1977), who suggested the designation Joubert syndrome based on the article by Joubert et al. (1969) (see JBTS17, 614615), described 3 cases, 2 of them sibs. Detailed neuropathologic findings on 1 of these patients were reported by Friede and Boltshauser (1978). Boltshauser et al. (1981) reported 2 affected sisters whose parents were consanguineous. </p><p>Egger and Baraitser (1984) suggested that the sibs reported by Gustavson et al. (1971) and by Haumont and Pelc (1983) had the Joubert syndrome, not the Mohr syndrome (252100). </p><p>Kendall et al. (1990) reviewed the radiologic findings in 16 consecutive cases. Cantani et al. (1990) reviewed 53 published cases. In the children of healthy, consanguineous Turkish parents, van Dorp et al. (1991) observed a severely retarded male child with neurologic anomalies including Dandy-Walker malformation, hypoplasia of the corpus callosum, occipital meningoencephalocele, and bilateral coloboma of the optic nerve with retrobulbar cystic mass. The detailed findings at autopsy in an affected female fetus from the mother's second pregnancy were presented. The fetus showed hypognathia, occipital meningoencephalocele, and empty posterior fossa. </p><p>Squires et al. (1991) described an affected infant, born to nonconsanguineous parents, who had episodic tachypnea, agenesis of the cerebellar vermis, a complex cardiac malformation, cutaneous dimples over the wrists and elbows, telecanthus, and micrognathia.</p><p>Lindhout et al. (1980) and Laverda et al. (1984) described associated chorioretinal coloboma (see 243910). Saraiva and Baraitser (1992) reviewed 72 previously reported patients and 29 new patients with the possible diagnosis of Joubert syndrome. They presented data on 94 patients that fulfilled their criteria and proposed a classification into 2 groups: those with retinal dystrophy and those without. Retinal dystrophy ran true in families and was never absent when renal cysts were reported. </p><p>Maria et al. (1999) reviewed the clinical features of Joubert syndrome and provided revised diagnostic criteria. They pointed out that careful examination of the face shows a characteristic appearance: large head, prominent forehead, high rounded eyebrows, epicanthal folds, ptosis (occasionally), upturned nose with evident nostrils, open mouth (the mouth tends to have an oval shape early on, a 'rhomboid' appearance later, and finally can appear triangular with downturned mouth angles), tongue protrusion and rhythmic tongue motions, and occasionally low-set and tilted ears. Neuroophthalmologic examination shows oculomotor apraxia. Most children with this disorder have hyperpnea intermixed with central apnea in the neonatal period. Neuroimaging of the head in the axial plane demonstrates the 'molar tooth sign,' that is, deep posterior interpeduncular fossa, thick and elongated superior cerebellar peduncles, and hypoplastic or aplastic superior cerebellar vermis. See their Table 1 for the proposed revised diagnostic criteria. </p><p>Fennell et al. (1999) reported on cognitive, behavioral, and developmental findings of follow-up studies of Joubert syndrome. The parents' reports of behaviors showed problems with temperament, hyperactivity, aggressiveness, and dependency, as well as problems in physical development and care that were thought to be related to the neurologic handicaps. Parents' reports of developmental attainments revealed that only 3 of 40 children were functioning in the borderline range, with the rest scoring in the severely impaired range. </p><p>The studies reported by Yachnis and Rorke (1999) suggested that, in addition to vermal agenesis, Joubert syndrome is characterized by malformation of multiple brainstem structures. The latter could explain certain clinical features of the syndrome, including episodic hyperpnea and oculomotor apraxia. Brainstem malformation is represented by the 'molar tooth sign' on magnetic resonance imaging (Maria et al., 1999). </p><p>Raynes et al. (1999) described 3 sisters with Joubert syndrome, 2 of whom were monozygotic twins with highly discordant phenotypes. The twins were born at 34 weeks' gestation with discordant birth weights. Their anatomic, neurologic, and developmental status also differed greatly: twin B was able to walk and run, and was verbal, unlike twin A who was wheelchair-bound, severely retarded, nonverbal, and autistic. Abnormal eye movements and retinal dysplasia were features in all 3 girls, but none had renal cysts demonstrable by ultrasonography. Magnetic resonance images showed the 'molar tooth sign,' the radiologic hallmark of Joubert syndrome, although only 1 twin, the more severely handicapped, had severe hypoplasia of the cerebellar hemispheres. Raynes et al. (1999) discussed the basis for the phenotypic discordance in the twins. </p><p>Valente et al. (2005) reported 2 families with Joubert syndrome linked to chromosome 9q (JBTS1). In a family of Italian origin, 2 sibs had hypotonia that evolved into ataxia, marked oculomotor apraxia, and moderate visual reduction with mild pigmentary changes. Intelligence and kidney function were normal in both patients. In the second family, originating from Oman, an affected child had a typical neurologic phenotype with mental retardation, but no breathing dysregulation. Fundus exam and kidney function were normal. All of these patients had the molar tooth sign on MRI. </p><p>In a retrospective review of midsagittal T1-weighted brain MRI studies of 20 patients with Joubert syndrome ranging in age from 18 days to 23 years, Spampinato et al. (2008) found absence of decussation of the superior cerebellar peduncles in all 6 patients over 30 months of age. Decussation was well seen on brain scans of 16 healthy controls over 30 months of age, but could not be visualized in any individuals, healthy or patients, under 30 months of age. Spampinato et al. (2008) concluded that the lack of superior cerebellar commissural fibers in Joubert syndrome accounted in part for the classic molar tooth sign observed in patients with the disorder. </p><p>Braddock et al. (2007) analyzed the dysmorphic facial features of 34 children and young adults with Joubert syndrome who were not classified by molecular analysis. Findings included long face, frontal prominence, bitemporal narrowing, ptosis, prominent nasal bridge and tip, prognathism, eyebrow abnormalities, trapezoid-shaped mouth, lower lip eversion, and thick ear lobes. Anthropometric analysis showed several significant differences in measurements including bizygomatic, frontal, nasal, and mandibular dimensions. Facial characteristics appeared to become more distinct with age. Despite these findings, Braddock et al. (2007) noted that there was extreme variability likely resulting from genetic heterogeneity. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>To localize the region responsible for Joubert syndrome, Saar et al. (1999) performed a whole-genome scan in 2 consanguineous families of Arabian-Iranian origins with multiple affected members. In 1 family of Omani origin (Sztriha et al., 1999), Saar et al. (1999) detected linkage to the telomeric region of 9q, close to marker D9S158, with a multipoint lod score of Z = 3.7. The second family did not show linkage to this region, giving the first indication of genetic heterogeneity underlying Joubert syndrome. These findings were supported by subsequent analysis of 2 smaller families, one compatible with linkage to 9q34.3 and the other unlinked. The locus on 9q34.3 is referred to as JBTS1. Valente et al. (2005) reported 2 additional affected female twins from 1 of the families reported by Saar et al. (1999). </p><p><strong><em>Heterogeneity</em></strong></p><p>
Blair et al. (2002) investigated a cohort of apparently unrelated North American Joubert syndrome pedigrees for association with the 9q34 and 17p11.2 loci that had previously been implicated and excluded these 2 loci in all cases where data were informative. Analysis of an additional 21 unrelated JBTS patients showed no evidence of homozygosity at the 9q34 and 17p11.2 loci that would suggest inheritance of founder JBTS mutations or unreported consanguinity. Together, these data suggested that one or more major loci for JBTS remained to be identified. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Cytogenetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Natacci et al. (2000) reported a 22-year-old woman with a deletion in the short arm of chromosome 17 who presented with the clinical manifestations of both Smith-Magenis syndrome (SMS; 182290) and Joubert syndrome. Facial anomalies, brachydactyly, severe mental retardation, and self-injuring behavior were attributed to SMS, whereas the cerebellar vermis hypoplasia, hypotonia, ataxic gait, developmental delay, and abnormal respiratory pattern suggested Joubert syndrome. By fluorescence in situ hybridization analyses with YAC mapping to the 17p11.2 region, as well as locus-specific probes generated through a novel procedure, they established that the deletion encompasses a 4-Mb interval. The deletion differed from that commonly found in SMS in its telomeric boundary, and was more distal than usually observed. The presence of the Joubert syndrome phenotype in this patient and the detection of an unusual SMS deletion suggested the presence of a Joubert syndrome gene in close proximity to the SMS locus. Although Joubert syndrome has been linked to 9q34.3 in some families, no linkage to this area has been demonstrated in other families. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The transmission pattern of Joubert syndrome-1 in the families reported by Bielas et al. (2009) was consistent with autosomal recessive inheritance. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In affected members of 7 families with Joubert syndrome, Bielas et al. (2009) identified 5 different homozygous mutations in the INPP5E gene (see, e.g., 613037.0002-613037.0005). Three families were from the United Arab Emirates, 1 from Turkey, 1 from Egypt, and 2 from Italy. All of the mutations were in the catalytic domain of the protein, and all mutant proteins showed decreased phosphatase activity. The findings implied a link between PtdIns signaling and ciliopathies. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
For discussion of a possible association between Joubert syndrome and mutation in the PDPR gene, see 617835.0001.</p><p><strong><em>Exclusion Studies</em></strong></p><p>
Because of its expression in the developing cerebellum and because of an associated mutation of Wnt1 in the 'swaying' mouse, Pellegrino et al. (1997) evaluated the WNT1 gene (164820) as a candidate gene for Joubert syndrome. The investigators ascertained a cohort of 50 patients with Joubert syndrome to evaluate the presence of associated malformations and to initiate studies leading to the identification of the responsible gene. Only 8% of patients had polydactyly, 4% had colobomas, 2% had renal cysts, and 2% had soft tissue tumors of the tongue. No mutations of the WNT1 gene were found in the patients of the cohort. </p><p>Blair et al. (2002) undertook mutation analysis of several functional candidate genes in a total of 26 unrelated JBTS patients and excluded EN1 (131290), EN2 (131310), and FGF8 (600483) from a direct pathogenic role in JBTS. The BARHL1 gene (605211), which localizes to 9q34 and had previously been proposed as a strong positional candidate gene for JBTS, was also investigated and excluded from involvement in JBTS that is linked to 9q34. </p><p>In 2 sibs and 1 unrelated patient with Joubert syndrome, Gould and Walter (2004) demonstrated no abnormality of the BARHL1 gene or the BARX1 gene (603260) on 9q12. </p><p><strong><em>Modifier Genes</em></strong></p><p>
Khanna et al. (2009) presented evidence that a common allele in the RPGRIP1L gene (A229T; 610937.0013) may be a modifier of retinal degeneration in patients with ciliopathies due to other mutations, including JBTS. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Nomenclature</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Valente et al. (2003) used the designation cerebellooculorenal syndromes (CORSs) for the clinically and genetically heterogeneous autosomal recessive syndromes, including Joubert syndrome, that share a complex neuroradiologic malformation resembling a molar tooth on brain axial images. They described a consanguineous Sicilian family showing linkage of a cerebellooculorenal syndrome (without ocular involvement except nystagmus), showing linkage to the pericentromeric region of chromosome 11. Valente et al. (2003) and Keeler et al. (2003) proposed that the locus be called CORS2 (608091), with CORS1 suggested as an alternative designation for the JBTS1 locus on 9q34. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The classic article by Joubert et al. (1969) was reprinted with a cluster of papers on this disorder. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Bielas, S. L., Silhavy, J. L., Brancati, F., Kisseleva, M. V., Al-Gazali, L., Sztriha, L., Bayoumi, R. A., Zaki, M. S., Abdel-Aleem, A., Rosti, R. O., Kayserili, H., Swistun, D., and 13 others.
<strong>Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.</strong>
Nature Genet. 41: 1032-1036, 2009.
[PubMed: 19668216]
[Full Text: https://doi.org/10.1038/ng.423]
</p>
</li>
<li>
<p class="mim-text-font">
Blair, I. P., Gibson, R. R., Bennett, C. L., Chance, P. F.
<strong>Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1.</strong>
Am. J. Med. Genet. 107: 190-196, 2002.
[PubMed: 11807898]
</p>
</li>
<li>
<p class="mim-text-font">
Boltshauser, E., Herdan, M., Dumermuth, G., Isler, W.
<strong>Joubert syndrome: clinical and polygraphic observations in a further case.</strong>
Neuropediatrics 12: 181-191, 1981.
[PubMed: 7266779]
[Full Text: https://doi.org/10.1055/s-2008-1059650]
</p>
</li>
<li>
<p class="mim-text-font">
Boltshauser, E., Isler, W.
<strong>Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis.</strong>
Neuropadiatrie 8: 57-66, 1977.
[PubMed: 576733]
[Full Text: https://doi.org/10.1055/s-0028-1091505]
</p>
</li>
<li>
<p class="mim-text-font">
Braddock, S. R., Henley, K. M., Maria, B. L.
<strong>The face of Joubert syndrome: a study of dysmorphology and anthropometry.</strong>
Am. J. Med. Genet. 143A: 3235-3242, 2007.
[PubMed: 18000967]
[Full Text: https://doi.org/10.1002/ajmg.a.32099]
</p>
</li>
<li>
<p class="mim-text-font">
Cantani, A., Lucenti, P., Ronzani, G. A., Santoro, C.
<strong>Joubert syndrome: review of the fifty-three cases so far published.</strong>
Ann. Genet. 33: 96-98, 1990.
[PubMed: 2241092]
</p>
</li>
<li>
<p class="mim-text-font">
De Haene, A.
<strong>Agenesie partielle du vermis du cervelet a caractere familial.</strong>
Acta Neurol. Psychiat. Belg. 55: 622-628, 1955.
[PubMed: 13275283]
</p>
</li>
<li>
<p class="mim-text-font">
Egger, J., Baraitser, M.
<strong>Mohr syndrome variant or Joubert-Boltshauser syndrome? (Letter)</strong>
Clin. Genet. 25: 86-87, 1984.
[PubMed: 6705246]
[Full Text: https://doi.org/10.1111/j.1399-0004.1984.tb00470.x]
</p>
</li>
<li>
<p class="mim-text-font">
Fennell, E. B., Gitten, J. C., Dede, D. E., Maria, B. L.
<strong>Cognition, behavior, and development in Joubert syndrome.</strong>
J. Child Neurol. 14: 592-596, 1999.
[PubMed: 10488904]
[Full Text: https://doi.org/10.1177/088307389901400907]
</p>
</li>
<li>
<p class="mim-text-font">
Friede, R. L., Boltshauser, E.
<strong>Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome.</strong>
Dev. Med. Child Neurol. 20: 758-763, 1978.
[PubMed: 729929]
[Full Text: https://doi.org/10.1111/j.1469-8749.1978.tb15307.x]
</p>
</li>
<li>
<p class="mim-text-font">
Gould, D. B., Walter, M. A.
<strong>Mutational analysis of BARHL1 and BARX1 in three new patients with Joubert syndrome. (Letter)</strong>
Am. J. Med. Genet. 131A: 205-208, 2004.
[PubMed: 15487006]
[Full Text: https://doi.org/10.1002/ajmg.a.30227]
</p>
</li>
<li>
<p class="mim-text-font">
Gustavson, K. H., Kreuger, A., Petersen, P. O.
<strong>Syndrome characterized by lingual malformation, polydactyly, tachypnea and mental retardation (Mohr syndrome).</strong>
Clin. Genet. 2: 261-266, 1971.
[PubMed: 5146584]
[Full Text: https://doi.org/10.1111/j.1399-0004.1971.tb00287.x]
</p>
</li>
<li>
<p class="mim-text-font">
Haumont, D., Pelc, S.
<strong>The Mohr syndrome: are there two variants?</strong>
Clin. Genet. 24: 41-46, 1983.
[PubMed: 6352094]
[Full Text: https://doi.org/10.1111/j.1399-0004.1983.tb00067.x]
</p>
</li>
<li>
<p class="mim-text-font">
Joubert, M., Eisenring, J. J., Robb, J. P., Andermann, F.
<strong>Familial agenesis of the cerebellar vermis: a syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.</strong>
Neurology 19: 813-825, 1969. Note: Reprinted in J. Child Neurol. 14: 554-564, 1999.
[PubMed: 5816874]
[Full Text: https://doi.org/10.1212/wnl.19.9.813]
</p>
</li>
<li>
<p class="mim-text-font">
Keeler, L. C., Marsh, S. E., Leeflang, E. P., Woods, C. G., Sztriha, L., Al-Gazali, L., Gururaj, A., Gleeson, J. G.
<strong>Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.</strong>
Am. J. Hum. Genet. 73: 656-662, 2003.
[PubMed: 12917796]
[Full Text: https://doi.org/10.1086/378206]
</p>
</li>
<li>
<p class="mim-text-font">
Kendall, B., Kingsley, D., Lambert, S. R., Taylor, D., Finn, P.
<strong>Joubert syndrome: a clinico-radiological study.</strong>
Neuroradiology 31: 502-506, 1990.
[PubMed: 2352633]
[Full Text: https://doi.org/10.1007/BF00340131]
</p>
</li>
<li>
<p class="mim-text-font">
Khanna, H., Davis, E. E., Murga-Zamalloa, C. A., Estrada-Cuzcano, A., Lopez, I., den Hollander, A. I., Zonneveld, M. N., Othman, M. I., Waseem, N., Chakarova, C. F., Maubaret, C., Diaz-Font, A., and 22 others.
<strong>A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.</strong>
Nature Genet. 41: 739-745, 2009.
[PubMed: 19430481]
[Full Text: https://doi.org/10.1038/ng.366]
</p>
</li>
<li>
<p class="mim-text-font">
Laverda, A. M., Saia, O. S., Drigo, P., Danieli, E., Clementi, M., Tenconi, R.
<strong>Chorioretinal coloboma and Joubert syndrome: a nonrandom association.</strong>
J. Pediat. 105: 282-284, 1984.
[PubMed: 6747764]
[Full Text: https://doi.org/10.1016/s0022-3476(84)80133-x]
</p>
</li>
<li>
<p class="mim-text-font">
Lindhout, D., Barth, P. G., Valk, J., Boen-Tan, T. N.
<strong>The Joubert syndrome associated with bilateral chorioretinal coloboma.</strong>
Europ. J. Pediat. 134: 173-176, 1980.
[PubMed: 7439204]
[Full Text: https://doi.org/10.1007/BF01846041]
</p>
</li>
<li>
<p class="mim-text-font">
Maria, B. L., Boltshauser, E., Palmer, S. C., Tran, T. X.
<strong>Clinical features and revised diagnostic criteria in Joubert syndrome.</strong>
J. Child Neurol. 14: 583-591, 1999.
[PubMed: 10488903]
[Full Text: https://doi.org/10.1177/088307389901400906]
</p>
</li>
<li>
<p class="mim-text-font">
Natacci, F., Corrado, L., Pierri, M., Rossetti, M., Zuccarini, C., Riva, P., Miozzo, M., Larizza, L.
<strong>Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype.</strong>
Am. J. Med. Genet. 95: 467-472, 2000.
[PubMed: 11146468]
[Full Text: https://doi.org/10.1002/1096-8628(20001218)95:5&lt;467::aid-ajmg11&gt;3.0.co;2-t]
</p>
</li>
<li>
<p class="mim-text-font">
Pellegrino, J. E., Lensch, M. W., Muenke, M., Chance, P. F.
<strong>Clinical and molecular analysis in Joubert syndrome.</strong>
Am. J. Med. Genet. 72: 59-62, 1997.
[PubMed: 9295076]
[Full Text: https://doi.org/10.1002/(sici)1096-8628(19971003)72:1&lt;59::aid-ajmg12&gt;3.0.co;2-t]
</p>
</li>
<li>
<p class="mim-text-font">
Raynes, H. R., Shanske, A., Goldberg, S., Burde, R., Rapin, I.
<strong>Joubert syndrome: monozygotic twins with discordant phenotypes.</strong>
J. Child Neurol. 14: 649-654, 1999.
[PubMed: 10511337]
[Full Text: https://doi.org/10.1177/088307389901401005]
</p>
</li>
<li>
<p class="mim-text-font">
Saar, K., Al-Gazali, L., Sztriha, L., Rueschendorf, F., Nur-E-Kamal, M., Reis, A., Bayoumi, R.
<strong>Homozygosity mapping in families with Joubert syndrome identifies a locus on chromosome 9q34.3 and evidence for genetic heterogeneity.</strong>
Am. J. Hum. Genet. 65: 1666-1671, 1999.
[PubMed: 10577920]
[Full Text: https://doi.org/10.1086/302655]
</p>
</li>
<li>
<p class="mim-text-font">
Saraiva, J. M., Baraitser, M.
<strong>Joubert syndrome: a review.</strong>
Am. J. Med. Genet. 43: 726-731, 1992.
[PubMed: 1341417]
[Full Text: https://doi.org/10.1002/ajmg.1320430415]
</p>
</li>
<li>
<p class="mim-text-font">
Spampinato, M. V., Kraas, J., Maria, B. L., Walton, Z. J., Rumboldt, Z.
<strong>Absence of decussation of the superior cerebellar peduncles in patients with Joubert syndrome.</strong>
Am. J. Med. Genet. 146A: 1389-1394, 2008.
[PubMed: 18412277]
[Full Text: https://doi.org/10.1002/ajmg.a.32282]
</p>
</li>
<li>
<p class="mim-text-font">
Squires, L. A., Raymond, G., Neumeyer, A. M., Krishnamoorthy, K. S., Buyse, M. L.
<strong>Dysmorphic features of Joubert syndrome.</strong>
Dysmorph. Clin. Genet. 5: 72-77, 1991.
</p>
</li>
<li>
<p class="mim-text-font">
Sztriha, L., Al-Gazali, L. I., Aithala, G. R., Nork, M.
<strong>Joubert&#x27;s syndrome: new cases and review of clinicopathologic correlation.</strong>
Pediat. Neurol. 20: 274-281, 1999.
[PubMed: 10328276]
[Full Text: https://doi.org/10.1016/s0887-8994(98)00154-4]
</p>
</li>
<li>
<p class="mim-text-font">
Valente, E. M., Marsh, S. E., Castori, M., Dixon-Salazar, T., Bertini, E., Al-Gazali, L., Messer, J., Barbot, C., Woods, C. G., Boltshauser, E., Al-Tawari, A. A., Salpietro, C. D., Kayserili, H., Sztriha, L., Gribaa, M., Koenig, M., Dallapiccola, B., Gleeson, J. G.
<strong>Distinguishing the four genetic causes of Joubert syndrome-related disorders.</strong>
Ann. Neurol. 57: 513-519, 2005. Note: Erratum: Ann. Neurol. 57: 934 only, 2005.
[PubMed: 15786477]
[Full Text: https://doi.org/10.1002/ana.20422]
</p>
</li>
<li>
<p class="mim-text-font">
Valente, E. M., Salpietro, D. C., Brancati, F., Bertini, E., Galluccio, T., Tortorella, G., Briuglia, S., Dallapiccola, B.
<strong>Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation.</strong>
Am. J. Hum. Genet. 73: 663-670, 2003.
[PubMed: 12908130]
[Full Text: https://doi.org/10.1086/378241]
</p>
</li>
<li>
<p class="mim-text-font">
van Dorp, D. B., Palan, A., Lan Kwee, M., Barth, P. G., van der Harten, J. J.
<strong>Joubert syndrome: a clinical and pathological description of an affected male and a female fetus from the same sibship.</strong>
Am. J. Med. Genet. 40: 100-104, 1991.
[PubMed: 1887836]
[Full Text: https://doi.org/10.1002/ajmg.1320400121]
</p>
</li>
<li>
<p class="mim-text-font">
Yachnis, A. T., Rorke, L. B.
<strong>Neuropathology of Joubert syndrome.</strong>
J. Child Neurol. 14: 655-659, 1999.
[PubMed: 10511338]
[Full Text: https://doi.org/10.1177/088307389901401006]
</p>
</li>
</ol>
<div>
<br />
</div>
</div>
</div>
<div>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
<span class="text-nowrap mim-text-font">
Contributors:
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Marla J. F. O&#x27;Neill - updated : 08/10/2021<br>Cassandra L. Kniffin - updated : 02/03/2020<br>Cassandra L. Kniffin - updated : 1/11/2012<br>Cassandra L. Kniffin - updated : 9/29/2009<br>Cassandra L. Kniffin - updated : 6/15/2009<br>Cassandra L. Kniffin - updated : 1/12/2009<br>Cassandra L. Kniffin - updated : 9/3/2008<br>Cassandra L. Kniffin - updated : 7/9/2008<br>Cassandra L. Kniffin - updated : 9/15/2005<br>Victor A. McKusick - updated : 1/20/2005<br>Victor A. McKusick - updated : 9/10/2004<br>Victor A. McKusick - updated : 6/10/2004<br>Victor A. McKusick - updated : 9/5/2003<br>Victor A. McKusick - updated : 1/30/2002<br>Victor A. McKusick - updated : 2/11/2000<br>Victor A. McKusick - updated : 12/17/1999<br>Victor A. McKusick - updated : 12/7/1999
</span>
</div>
</div>
</div>
<div>
<br />
</div>
<div>
<div class="row">
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
<span class="text-nowrap mim-text-font">
Creation Date:
</span>
</div>
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Victor A. McKusick : 6/3/1986
</span>
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