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<meta name="keywords" content="C4540389, disease or syndrome, jbts33, joubert syndrome 33, pibf1, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Joubert syndrome (JBTS) represents a classic ciliopathy characterized by hypotonia, ataxia, cognitive impairment, and a distinctive brain malformation, the 'molar tooth sign.' In addition, retinal dystrophy, cystic kidney disease, liver fibrosis, and polydactyly occur in a subset of patients (summary by Wheway et al., 2015). For a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (213300)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1615779
|
||
ConceptID=C4540389
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Joubert syndrome 33<span class="h1sub">(JBTS33)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1615779</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information."><span class="highlight" style="background-color:">C4540389</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>JBTS33; JOUBERT SYNDROME 33</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="PIBF1 - ID: 10464 - NCBI Gene" href="/gene/10464" class="medgenPMinfo">PIBF1</a> (13q21.33-22.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0033311" target="_blank">MONDO:0033311</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/617767" target="_blank">617767</a></td></tr>
|
||
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Joubert syndrome (JBTS) represents a classic ciliopathy characterized by hypotonia, ataxia, cognitive impairment, and a distinctive brain malformation, the 'molar tooth sign.' In addition, retinal dystrophy, cystic kidney disease, liver fibrosis, and polydactyly occur in a subset of patients (summary by Wheway et al., 2015). For a discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (213300). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
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</div>
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<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_52619"><div><strong>Syndactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52619</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0039075</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are referred to as "symphalangism".</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52619">Feature record</a> | <a href="/medgen?term=%22Syndactyly%22%5BClinical%20Features%5D%20OR%2052619%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_849"><div><strong>Cerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>849</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0007758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/849">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20ataxia%22%5BClinical%20Features%5D%20OR%20849%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_400670"><div><strong>Molar tooth sign on MRI</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400670</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C1865060</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/400670">Feature record</a> | <a href="/medgen?term=%22Molar%20tooth%20sign%20on%20MRI%22%5BClinical%20Features%5D%20OR%20400670%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_483686"><div><strong>Oculomotor apraxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>483686</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3489733</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/483686">Feature record</a> | <a href="/medgen?term=%22Oculomotor%20apraxia%22%5BClinical%20Features%5D%20OR%20483686%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_867393"><div><strong>Delayed CNS myelination</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>867393</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4021758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Delayed myelination in the central nervous system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/867393">Feature record</a> | <a href="/medgen?term=%22Delayed%20CNS%20myelination%22%5BClinical%20Features%5D%20OR%20867393%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_745757"><div><strong>Macrocephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>745757</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C2243051</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/745757">Feature record</a> | <a href="/medgen?term=%22Macrocephaly%22%5BClinical%20Features%5D%20OR%20745757%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2009"><div><strong>Apnea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2009</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0003578</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2009">Feature record</a> | <a href="/medgen?term=%22Apnea%22%5BClinical%20Features%5D%20OR%202009%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_52469"><div><strong>Splenomegaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52469</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0038002</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal increased size of the spleen.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/52469">Feature record</a> | <a href="/medgen?term=%22Splenomegaly%22%5BClinical%20Features%5D%20OR%2052469%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_896366"><div><strong>Cone-rod dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>896366</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4085590</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">There are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, and X-linked. Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.\n\nThe first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus).\n\nCone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/896366">Feature record</a> | <a href="/medgen?term=%22Cone-rod%20dystrophy%22%5BClinical%20Features%5D%20OR%20896366%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of limbs</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52619" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Syndactyly</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_896366" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cone-rod dystrophy</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52469" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Splenomegaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_745757" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrocephaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_867393" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed CNS myelination</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_400670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Molar tooth sign on MRI</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_483686" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculomotor apraxia</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Apnea</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39085968">Optimal prenatal genetic diagnostic approach for posterior fossa malformation: karyotyping, copy number variant testing, or whole-exome sequencing?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Juan Z,
|
||
Cuixia G,
|
||
Yuanjie C,
|
||
Yan L,
|
||
Ling Y,
|
||
Tiejuan Z,
|
||
Li W,
|
||
Jijing H,
|
||
Guohui Z,
|
||
Yousheng Y,
|
||
Qingqing W,
|
||
Lijuan S</span><br />
|
||
<span class="medgenPMjournal">Eur J Med Res</span>
|
||
2024 Jul 31;29(1):397.
|
||
doi: 10.1186/s40001-024-01993-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39085968" target="_blank">39085968</a><a href="/pmc/articles/PMC11290165" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23845172">Nationwide survey of Arima syndrome: revised diagnostic criteria from epidemiological analysis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Itoh M,
|
||
Iwasaki Y,
|
||
Ohno K,
|
||
Inoue T,
|
||
Hayashi M,
|
||
Ito S,
|
||
Matsuzaka T,
|
||
Ide S,
|
||
Arima M</span><br />
|
||
<span class="medgenPMjournal">Brain Dev</span>
|
||
2014 May;36(5):388-93.
|
||
Epub 2013 Jul 8
|
||
doi: 10.1016/j.braindev.2013.06.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23845172" target="_blank">23845172</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20232449">Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Iannicelli M,
|
||
Brancati F,
|
||
Mougou-Zerelli S,
|
||
Mazzotta A,
|
||
Thomas S,
|
||
Elkhartoufi N,
|
||
Travaglini L,
|
||
Gomes C,
|
||
Ardissino GL,
|
||
Bertini E,
|
||
Boltshauser E,
|
||
Castorina P,
|
||
D'Arrigo S,
|
||
Fischetto R,
|
||
Leroy B,
|
||
Loget P,
|
||
Bonnière M,
|
||
Starck L,
|
||
Tantau J,
|
||
Gentilin B,
|
||
Majore S,
|
||
Swistun D,
|
||
Flori E,
|
||
Lalatta F,
|
||
Pantaleoni C,
|
||
Penzien J,
|
||
Grammatico P;
|
||
International JSRD Study Group,
|
||
Dallapiccola B,
|
||
Gleeson JG,
|
||
Attie-Bitach T,
|
||
Valente EM</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2010 May;31(5):E1319-31.
|
||
doi: 10.1002/humu.21239.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20232449" target="_blank">20232449</a><a href="/pmc/articles/PMC2918781" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(joubert%20syndrome%2033)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (3)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38751342">Defects in diffusion barrier function of ciliary transition zone caused by ciliopathy variations of TMEM218.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fujii T,
|
||
Liang L,
|
||
Nakayama K,
|
||
Katoh Y</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2024 Aug 6;33(16):1442-1453.
|
||
doi: 10.1093/hmg/ddae083.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38751342" target="_blank">38751342</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37593819">Visual function in children with Joubert syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morelli F,
|
||
Toni F,
|
||
Saligari E,
|
||
D'Abrusco F,
|
||
Serpieri V,
|
||
Ballante E,
|
||
Ruberto G,
|
||
Borgatti R,
|
||
Valente EM,
|
||
Signorini S;
|
||
Developmental Neuro-ophthalmology Study Group</span><br />
|
||
<span class="medgenPMjournal">Dev Med Child Neurol</span>
|
||
2024 Mar;66(3):379-388.
|
||
Epub 2023 Aug 18
|
||
doi: 10.1111/dmcn.15732.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37593819" target="_blank">37593819</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36493848">Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhu T,
|
||
Shen Y,
|
||
Sun Z,
|
||
Han X,
|
||
Wei X,
|
||
Li W,
|
||
Lu C,
|
||
Cheng T,
|
||
Zou X,
|
||
Li H,
|
||
Cao Z,
|
||
Gao H,
|
||
Ma X,
|
||
Luo M,
|
||
Sui R</span><br />
|
||
<span class="medgenPMjournal">Am J Ophthalmol</span>
|
||
2023 Apr;248:96-106.
|
||
Epub 2022 Dec 7
|
||
doi: 10.1016/j.ajo.2022.11.023.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36493848" target="_blank">36493848</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26477546">Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Srour M,
|
||
Hamdan FF,
|
||
McKnight D,
|
||
Davis E,
|
||
Mandel H,
|
||
Schwartzentruber J,
|
||
Martin B,
|
||
Patry L,
|
||
Nassif C,
|
||
Dionne-Laporte A,
|
||
Ospina LH,
|
||
Lemyre E,
|
||
Massicotte C,
|
||
Laframboise R,
|
||
Maranda B,
|
||
Labuda D,
|
||
Décarie JC,
|
||
Rypens F,
|
||
Goldsher D,
|
||
Fallet-Bianco C,
|
||
Soucy JF,
|
||
Laberge AM,
|
||
Maftei C;
|
||
Care4Rare Canada Consortium,
|
||
Boycott K,
|
||
Brais B,
|
||
Boucher RM,
|
||
Rouleau GA,
|
||
Katsanis N,
|
||
Majewski J,
|
||
Elpeleg O,
|
||
Kukolich MK,
|
||
Shalev S,
|
||
Michaud JL</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2015 Nov 5;97(5):744-53.
|
||
Epub 2015 Oct 17
|
||
doi: 10.1016/j.ajhg.2015.09.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26477546" target="_blank">26477546</a><a href="/pmc/articles/PMC4667103" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23355017">Is fetal cerebral MRI worthwhile in antenatally diagnosed isolated cleft lip with or without palate?</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">de Milly MN,
|
||
Alison M,
|
||
Arthurs O,
|
||
Vuillard E,
|
||
Oury JF,
|
||
Elmaleh-Berges M,
|
||
Sebag G,
|
||
Belarbi N</span><br />
|
||
<span class="medgenPMjournal">Prenat Diagn</span>
|
||
2013 Mar;33(3):273-8.
|
||
Epub 2013 Jan 25
|
||
doi: 10.1002/pd.4058.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23355017" target="_blank">23355017</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Joubert%20syndrome%2033%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (10)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/38751342">Defects in diffusion barrier function of ciliary transition zone caused by ciliopathy variations of TMEM218.</a></div>
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Liang L,
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Nakayama K,
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<span class="bold">PMID: </span><a href="/pubmed/38751342" target="_blank">38751342</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/37593819">Visual function in children with Joubert syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Morelli F,
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Toni F,
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Saligari E,
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D'Abrusco F,
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Serpieri V,
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Ballante E,
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Ruberto G,
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Valente EM,
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Signorini S;
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2024 Mar;66(3):379-388.
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<span class="bold">PMID: </span><a href="/pubmed/37593819" target="_blank">37593819</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36493848">Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zhu T,
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Shen Y,
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Sun Z,
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Han X,
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Wei X,
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Li W,
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Lu C,
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Cheng T,
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Zou X,
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Li H,
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Cao Z,
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Gao H,
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Ma X,
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<span class="medgenPMjournal">Am J Ophthalmol</span>
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2023 Apr;248:96-106.
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Epub 2022 Dec 7
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<span class="bold">PMID: </span><a href="/pubmed/36493848" target="_blank">36493848</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/23355017">Is fetal cerebral MRI worthwhile in antenatally diagnosed isolated cleft lip with or without palate?</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">de Milly MN,
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Alison M,
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Arthurs O,
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Vuillard E,
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Oury JF,
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Elmaleh-Berges M,
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Sebag G,
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<span class="medgenPMjournal">Prenat Diagn</span>
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2013 Mar;33(3):273-8.
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Epub 2013 Jan 25
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<span class="bold">PMID: </span><a href="/pubmed/23355017" target="_blank">23355017</a></div>
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||
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||
<div class="nl"><a target="_blank" href="/pubmed/10385844">Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maria BL,
|
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Quisling RG,
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Rosainz LC,
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Yachnis AT,
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Gitten J,
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Dede D,
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Fennell E</span><br />
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<span class="medgenPMjournal">J Child Neurol</span>
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1999 Jun;14(6):368-76.
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<span class="bold">PMID: </span><a href="/pubmed/10385844" target="_blank">10385844</a></div>
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||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Joubert%20syndrome%2033%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (13)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/10385844">Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maria BL,
|
||
Quisling RG,
|
||
Rosainz LC,
|
||
Yachnis AT,
|
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Gitten J,
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Dede D,
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Fennell E</span><br />
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<span class="medgenPMjournal">J Child Neurol</span>
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1999 Jun;14(6):368-76.
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doi: 10.1177/088307389901400605.
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<span class="bold">PMID: </span><a href="/pubmed/10385844" target="_blank">10385844</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Joubert%20syndrome%2033%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32944789">A rare mutant of OFD1 gene responsible for Joubert syndrome with significant phenotype variation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang YW,
|
||
Qu HB,
|
||
Long N,
|
||
Leng XY,
|
||
Liu YQ,
|
||
Yang Y</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomics</span>
|
||
2021 Jan;296(1):33-40.
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||
Epub 2020 Sep 18
|
||
doi: 10.1007/s00438-020-01726-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32944789" target="_blank">32944789</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26477546">Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Srour M,
|
||
Hamdan FF,
|
||
McKnight D,
|
||
Davis E,
|
||
Mandel H,
|
||
Schwartzentruber J,
|
||
Martin B,
|
||
Patry L,
|
||
Nassif C,
|
||
Dionne-Laporte A,
|
||
Ospina LH,
|
||
Lemyre E,
|
||
Massicotte C,
|
||
Laframboise R,
|
||
Maranda B,
|
||
Labuda D,
|
||
Décarie JC,
|
||
Rypens F,
|
||
Goldsher D,
|
||
Fallet-Bianco C,
|
||
Soucy JF,
|
||
Laberge AM,
|
||
Maftei C;
|
||
Care4Rare Canada Consortium,
|
||
Boycott K,
|
||
Brais B,
|
||
Boucher RM,
|
||
Rouleau GA,
|
||
Katsanis N,
|
||
Majewski J,
|
||
Elpeleg O,
|
||
Kukolich MK,
|
||
Shalev S,
|
||
Michaud JL</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2015 Nov 5;97(5):744-53.
|
||
Epub 2015 Oct 17
|
||
doi: 10.1016/j.ajhg.2015.09.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26477546" target="_blank">26477546</a><a href="/pmc/articles/PMC4667103" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Joubert%20syndrome%2033%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (2)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35609210">BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36 contributes to intraflagellar transport turnaround involving ICK/CILK1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Satoda Y,
|
||
Noguchi T,
|
||
Fujii T,
|
||
Taniguchi A,
|
||
Katoh Y,
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Nakayama K</span><br />
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||
<span class="medgenPMjournal">Mol Biol Cell</span>
|
||
2022 Aug 1;33(9):ar79.
|
||
Epub 2022 May 24
|
||
doi: 10.1091/mbc.E22-03-0089.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35609210" target="_blank">35609210</a><a href="/pmc/articles/PMC9582636" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32944789">A rare mutant of OFD1 gene responsible for Joubert syndrome with significant phenotype variation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhang YW,
|
||
Qu HB,
|
||
Long N,
|
||
Leng XY,
|
||
Liu YQ,
|
||
Yang Y</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomics</span>
|
||
2021 Jan;296(1):33-40.
|
||
Epub 2020 Sep 18
|
||
doi: 10.1007/s00438-020-01726-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32944789" target="_blank">32944789</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26477546">Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Srour M,
|
||
Hamdan FF,
|
||
McKnight D,
|
||
Davis E,
|
||
Mandel H,
|
||
Schwartzentruber J,
|
||
Martin B,
|
||
Patry L,
|
||
Nassif C,
|
||
Dionne-Laporte A,
|
||
Ospina LH,
|
||
Lemyre E,
|
||
Massicotte C,
|
||
Laframboise R,
|
||
Maranda B,
|
||
Labuda D,
|
||
Décarie JC,
|
||
Rypens F,
|
||
Goldsher D,
|
||
Fallet-Bianco C,
|
||
Soucy JF,
|
||
Laberge AM,
|
||
Maftei C;
|
||
Care4Rare Canada Consortium,
|
||
Boycott K,
|
||
Brais B,
|
||
Boucher RM,
|
||
Rouleau GA,
|
||
Katsanis N,
|
||
Majewski J,
|
||
Elpeleg O,
|
||
Kukolich MK,
|
||
Shalev S,
|
||
Michaud JL</span><br />
|
||
<span class="medgenPMjournal">Am J Hum Genet</span>
|
||
2015 Nov 5;97(5):744-53.
|
||
Epub 2015 Oct 17
|
||
doi: 10.1016/j.ajhg.2015.09.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26477546" target="_blank">26477546</a><a href="/pmc/articles/PMC4667103" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22420539">Microcephaly-lymphedema-chorioretinal dysplasia associated with pachymicrogyria and atrophy of the cerebellar vermis: an integration of brain-ocular migration disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pastora N,
|
||
Peralta J,
|
||
Canal-Fontcuberta I,
|
||
Grabowska A,
|
||
Pulido JS,
|
||
Abelairas J,
|
||
Armada F,
|
||
Garcia-Alix A</span><br />
|
||
<span class="medgenPMjournal">Ophthalmic Genet</span>
|
||
2012 Jun;33(2):116-8.
|
||
Epub 2012 Mar 15
|
||
doi: 10.3109/13816810.2011.626012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22420539" target="_blank">22420539</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Joubert%20syndrome%2033%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (4)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
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<div class="portlet mgSection" id="ID_113">
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C4540389%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (10)</a></li>
|
||
<li><a href="/gtr/tests?term=C4540389%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (12)</a></li>
|
||
<li><a href="/gtr/tests?term=C4540389%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (5)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4540389%5bDISCUI%5d" target="_blank">See all (12)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=617767" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Joubert%20syndrome%2033" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(joubert%20syndrome%2033)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=607532" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=10464[geneid]" target="_blank">View PIBF1 variations in ClinVar</a></li><li><a href="https://catalog.coriell.org/Search?q=617767" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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