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<meta name="keywords" content="C1969053, disease or syndrome, jbts7, joubert syndrome 7, joubert syndrome caused by mutation in rpgrip1l, joubert syndrome type 7, rpgrip1l, rpgrip1l joubert syndrome, rpgrip1l-related joubert syndrome, 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="Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=369401
ConceptID=C1969053
-->
<!--imgCountBooks = 2--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (2)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1325/bin/joubert-Image001.gif" src-large="/books/NBK1325/bin/joubert-Image001.jpg" /></a><br /><a href="/books/NBK1325/figure/joubert.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1325/bin/joubert-Image002.gif" src-large="/books/NBK1325/bin/joubert-Image002.jpg" /></a><br /><a href="/books/NBK1325/figure/joubert.F2/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Joubert syndrome 7<span class="h1sub">(JBTS7)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>369401</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)&#10;Click for more information.">C1969053</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>JBTS7; RPGRIP1L-Related Joubert Syndrome</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="RPGRIP1L - ID: 23322 - NCBI Gene" href="/gene/23322" class="medgenPMinfo">RPGRIP1L</a> (16q12.2)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0012694" target="_blank">MONDO:0012694</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/611560" target="_blank">611560</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>
<div class="portlet mgSection" id="ID_101">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1325" target="_blank">Joubert Syndrome</a></div><div>Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1325#joubert.Summary" target="NBK1325">Summary</a>  |  <a class="medgenPMinfo" href="/books/NBK1325#joubert.Diagnosis" target="NBK1325">Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1325#joubert.Clinical_Characteristics" target="NBK1325">Clinical Characteristics</a>  |  <a class="medgenPMinfo" href="/books/NBK1325#joubert.Genetically_Related_Disorders" target="NBK1325">Genetically Related Disorders</a>  |  <a class="medgenPMinfo" href="/books/NBK1325#joubert.Differential_Diagnosis" target="NBK1325">Differential Diagnosis</a>  |  <a class="medgenPMinfo" href="/books/NBK1325#joubert.Management" target="NBK1325">Management</a>  |  <a class="medgenPMinfo" href="/books/NBK1325#joubert.Genetic_Counseling" target="NBK1325">Genetic Counseling</a>  |  <a class="medgenPMinfo" href="/books/NBK1325#joubert.Resources" target="NBK1325">Resources</a>  |  <a class="medgenPMinfo" href="/books/NBK1325#joubert.Molecular_Genetics" target="NBK1325">Molecular Genetics</a>  |  <a class="medgenPMinfo" href="/books/NBK1325#joubert.Chapter_Notes" target="NBK1325">Chapter Notes</a>  |  <a class="medgenPMinfo" href="/books/NBK1325#joubert.References" target="NBK1325">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
Melissa Parisi  |  Ian Glass   <a href="/books/NBK1325" target="NBK1325" title="NCBI Bookshelf: Joubert Syndrome">view full author information</a></div></div>
</div>
<div class="portlet mgSection" id="ID_117">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><div class="mgSection"><strong>From GeneReviews Overview</strong><br />Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.</div></div>
</div>
<div class="portlet mgSection" id="ID_102">
<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_146912"><div><strong>Nephronophthisis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>146912</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)&#10;Click for more information.">C0687120</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The nephronophthisis (NPH) phenotype is characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before age 30 years. Three age-based clinical subtypes are recognized: infantile, juvenile, and adolescent/adult. Infantile NPH can present in utero with oligohydramnios sequence (limb contractures, pulmonary hypoplasia, and facial dysmorphisms) or postnatally with renal manifestations that progress to ESRD before age 3 years. Juvenile NPH, the most prevalent subtype, typically presents with polydipsia and polyuria, growth retardation, chronic iron-resistant anemia, or other findings related to chronic kidney disease (CKD). Hypertension is typically absent due to salt wasting. ESRD develops at a median age of 13 years. Ultrasound findings are increased echogenicity, reduced corticomedullary differentiation, and renal cysts (in 50% of affected individuals). Histologic findings include tubulointerstitial fibrosis, thickened and disrupted tubular basement membrane, sporadic corticomedullary cysts, and normal or reduced kidney size. Adolescent/adult NPH is clinically similar to juvenile NPH, but ESRD develops at a median age of 19 years. Within a subtype, inter- and intrafamilial variability in rate of progression to ESRD is considerable. Approximately 80%-90% of individuals with the NPH phenotype have no extrarenal features (i.e., they have isolated NPH); ~10%-20% have extrarenal manifestations that constitute a recognizable syndrome (e.g., Joubert syndrome, Bardet-Biedl syndrome, Jeune syndrome and related skeletal disorders, Meckel-Gruber syndrome, Senior-Løken syndrome, Leber congenital amaurosis, COACH syndrome, and oculomotor apraxia, Cogan type).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/146912">Feature record</a> | <a href="/medgen?term=%22Nephronophthisis%22%5BClinical%20Features%5D%20OR%20146912%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_384526"><div><strong>Stage 5 chronic kidney disease</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>384526</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)&#10;Click for more information.">C2316810</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/384526">Feature record</a> | <a href="/medgen?term=%22Stage%205%20chronic%20kidney%20disease%22%5BClinical%20Features%5D%20OR%20384526%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_854361"><div><strong>Renal cyst</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854361</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)&#10;Click for more information.">C3887499</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A fluid filled sac in the kidney.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/854361">Feature record</a> | <a href="/medgen?term=%22Renal%20cyst%22%5BClinical%20Features%5D%20OR%20854361%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_67394"><div><strong>Postaxial polydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67394</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)&#10;Click for more information.">C0220697</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Polydactyly refers to the occurrence of supernumerary digits and is the most frequent of congenital hand and foot deformities. Based on the location of the extra digits, polydactyly can be classified into preaxial, involving the thumb or great toe; postaxial, affecting the fifth digit; and central, involving the 3 central digits. Postaxial polydactyly (PAP) is further subclassified into 2 types: in type A, a well-formed extra digit articulates with the fifth or a sixth metacarpal, whereas in type B, a rudimentary, poorly developed extra digit is present (summary by Umm-e-Kalsoom et al., 2012).&#13; Genetic Heterogeneity of Postaxial Polydactyly&#13; Other forms of postaxial polydactyly type A include PAPA2 (602085) on chromosome 13q21; PAPA3 (607324) on chromosome 19p13; PAPA4 (608562) on chromosome 7q22; PAPA5 (263450) on chromosome 13q13; PAPA6 (615226), caused by mutation in the ZNF141 gene (194648) on chromosome 4p16; PAPA7 (617642), caused by mutation in the IQCE gene (617631) on chromosome 7p22; PAPA8 (618123), caused by mutation in the GLI1 gene (165220) on chromosome 12q13; PAPA9 (618219), caused by mutation in the CIBAR1 gene (617273) on chromosome 8q22; and PAPA10 (618498), caused by mutation in the KIAA0825 gene (617266) on chromosome 5q15.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/67394">Feature record</a> | <a href="/medgen?term=%22Postaxial%20polydactyly%22%5BClinical%20Features%5D%20OR%2067394%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_609221"><div><strong>Postaxial hand polydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>609221</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)&#10;Click for more information.">C0431904</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/609221">Feature record</a> | <a href="/medgen?term=%22Postaxial%20hand%20polydactyly%22%5BClinical%20Features%5D%20OR%20609221%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_154364"><div><strong>Genu valgum</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>154364</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)&#10;Click for more information.">C0576093</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">The legs angle inward, such that the knees are close together and the ankles far apart.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/154364">Feature record</a> | <a href="/medgen?term=%22Genu%20valgum%22%5BClinical%20Features%5D%20OR%20154364%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)&#10;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)&#10;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_334198"><div><strong>Abnormal corpus callosum morphology</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334198</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)&#10;Click for more information.">C1842581</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Anatomical Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Abnormality of the corpus callosum.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/334198">Feature record</a> | <a href="/medgen?term=%22Abnormal%20corpus%20callosum%20morphology%22%5BClinical%20Features%5D%20OR%20334198%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_334226"><div><strong>Hypoplasia of the brainstem</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334226</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)&#10;Click for more information.">C1842688</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Underdevelopment of the brainstem.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/334226">Feature record</a> | <a href="/medgen?term=%22Hypoplasia%20of%20the%20brainstem%22%5BClinical%20Features%5D%20OR%20334226%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_383739"><div><strong>Brainstem dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383739</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)&#10;Click for more information.">C1855677</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A developmental structural anomaly of the stalk-like part of the brain that comprises the midbrain (aka mesencephalon), the pons (aka pons Varolii), and the medulla oblongata, and connects the cerebral hemispheres with the cervical spinal cord.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/383739">Feature record</a> | <a href="/medgen?term=%22Brainstem%20dysplasia%22%5BClinical%20Features%5D%20OR%20383739%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)&#10;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)&#10;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_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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)&#10;Click for more information.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1646412"><div><strong>Encephalocele</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646412</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)&#10;Click for more information.">C4551722</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1646412">Feature record</a> | <a href="/medgen?term=%22Encephalocele%22%5BClinical%20Features%5D%20OR%201646412%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_11348"><div><strong>Scoliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11348</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)&#10;Click for more information.">C0036439</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The presence of an abnormal lateral curvature of the spine.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/11348">Feature record</a> | <a href="/medgen?term=%22Scoliosis%22%5BClinical%20Features%5D%20OR%2011348%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_346841"><div><strong>Generalized hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346841</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)&#10;Click for more information.">C1858120</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Generalized muscular hypotonia (abnormally low muscle tone).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/346841">Feature record</a> | <a href="/medgen?term=%22Generalized%20hypotonia%22%5BClinical%20Features%5D%20OR%20346841%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_66669"><div><strong>Tachypnea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66669</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)&#10;Click for more information.">C0231835</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Very rapid breathing.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/66669">Feature record</a> | <a href="/medgen?term=%22Tachypnea%22%5BClinical%20Features%5D%20OR%2066669%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_812546"><div><strong>Neonatal breathing dysregulation</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>812546</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)&#10;Click for more information.">C3806216</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/812546">Feature record</a> | <a href="/medgen?term=%22Neonatal%20breathing%20dysregulation%22%5BClinical%20Features%5D%20OR%20812546%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_812548"><div><strong>Episodic tachypnea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>812548</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)&#10;Click for more information.">C3806218</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Episodes of very rapid breathing.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/812548">Feature record</a> | <a href="/medgen?term=%22Episodic%20tachypnea%22%5BClinical%20Features%5D%20OR%20812548%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_854403"><div><strong>Central apnea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>854403</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)&#10;Click for more information.">C3887548</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/854403">Feature record</a> | <a href="/medgen?term=%22Central%20apnea%22%5BClinical%20Features%5D%20OR%20854403%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_2287"><div><strong>Ptosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2287</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)&#10;Click for more information.">C0005745</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/2287">Feature record</a> | <a href="/medgen?term=%22Ptosis%22%5BClinical%20Features%5D%20OR%202287%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_45166"><div><strong>Nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45166</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)&#10;Click for more information.">C0028738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/45166">Feature record</a> | <a href="/medgen?term=%22Nystagmus%22%5BClinical%20Features%5D%20OR%2045166%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_208903"><div><strong>Retinal dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>208903</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)&#10;Click for more information.">C0854723</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Retinal dystrophy is an abnormality of the retina associated with a hereditary process. Retinal dystrophies are defined by their predominantly monogenic inheritance and they are frequently associated with loss or dysfunction of photoreceptor cells as a primary or secondary event.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/208903">Feature record</a> | <a href="/medgen?term=%22Retinal%20dystrophy%22%5BClinical%20Features%5D%20OR%20208903%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(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).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_154364" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Genu valgum</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_609221" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Postaxial hand polydactyly</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_67394" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Postaxial polydactyly</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_45166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nystagmus</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_2287" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ptosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_208903" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Retinal dystrophy</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_146912" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nephronophthisis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_854361" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Renal cyst</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_384526" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Stage 5 chronic kidney disease</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_346841" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized hypotonia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_11348" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Scoliosis</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_334198" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormal corpus callosum morphology</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_383739" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Brainstem dysplasia</a></span></li><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_1646412" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Encephalocele</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_334226" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoplasia of the brainstem</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</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_854403" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Central apnea</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_812548" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Episodic tachypnea</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_812546" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neonatal breathing dysregulation</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66669" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tachypnea</a></span></li></ul></li></ul></div></div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0431399[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=98464">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C0431399[DISCUI]&amp;test_type=Research&amp;redirect=true" ref="ncbi_uid=98464">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=98464" target="_blank" href="/omim/213300">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1325/" ref="ncbi_uid=98464">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=98464" ref="ncbi_uid=98464">V</a></span></span><span class="TLline"><a href="/medgen/98464" ref="tree=GTR&amp;ncbi_uid=98464&amp;link_uid=98464" title="View MedGen record for 'Familial aplasia of the vermis'">Familial aplasia of the vermis</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0796147[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=162915">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=162915" target="_blank" href="/omim/200990">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1325/" ref="ncbi_uid=162915">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=162915" ref="ncbi_uid=162915">V</a></span></span><span class="TLline"><a href="/medgen/162915" ref="tree=GTR&amp;ncbi_uid=162915&amp;link_uid=162915" title="View MedGen record for 'Acrocallosal syndrome'">Acrocallosal syndrome</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551568[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=1644883">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1644883" target="_blank" href="/omim/213300">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1325/" ref="ncbi_uid=1644883">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=1644883" ref="ncbi_uid=1644883">V</a></span></span><span class="TLline"><a href="/medgen/1644883" ref="tree=GTR&amp;ncbi_uid=1644883&amp;link_uid=1644883" title="View MedGen record for 'Joubert syndrome 1'">Joubert syndrome 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1842577[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=334114">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=334114" target="_blank" href="/omim/608091">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1325/" ref="ncbi_uid=334114">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=334114" ref="ncbi_uid=334114">V</a></span></span><span class="TLline"><a href="/medgen/334114" ref="tree=GTR&amp;ncbi_uid=334114&amp;link_uid=334114" title="View MedGen record for 'Joubert syndrome 2'">Joubert syndrome 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1837713[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=332931">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=332931" target="_blank" href="/omim/608629">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1325/" ref="ncbi_uid=332931">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=332931" ref="ncbi_uid=332931">V</a></span></span><span class="TLline"><a href="/medgen/332931" ref="tree=GTR&amp;ncbi_uid=332931&amp;link_uid=332931" title="View MedGen record for 'Joubert syndrome 3'">Joubert syndrome 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1857780[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=347545">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=347545" target="_blank" href="/omim/610142">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1325/" ref="ncbi_uid=347545">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=347545" ref="ncbi_uid=347545">V</a></span></span><span class="TLline"><a href="/medgen/347545" ref="tree=GTR&amp;ncbi_uid=347545&amp;link_uid=347545" title="View MedGen record for 'Joubert syndrome 5'">Joubert syndrome 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1853153[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=342805">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=342805" target="_blank" href="/omim/609884">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1325/" ref="ncbi_uid=342805">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=342805" ref="ncbi_uid=342805">V</a></span></span><span class="TLline"><a href="/medgen/342805" ref="tree=GTR&amp;ncbi_uid=342805&amp;link_uid=342805" title="View MedGen record for 'Joubert syndrome 6'">Joubert syndrome 6</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1969053[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=369401">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=369401" target="_blank" href="/omim/610937">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1325/" ref="ncbi_uid=369401">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=369401" ref="ncbi_uid=369401">V</a></span></span><span class="TLline">Joubert syndrome 7</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2676771[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=436772">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=436772" target="_blank" href="/omim/608922">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1325/" ref="ncbi_uid=436772">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=436772" ref="ncbi_uid=436772">V</a></span></span><span class="TLline"><a href="/medgen/436772" ref="tree=GTR&amp;ncbi_uid=436772&amp;link_uid=436772" title="View MedGen record for 'Joubert syndrome 8'">Joubert syndrome 8</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2676788[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=382940">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=382940" target="_blank" href="/omim/612013">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1325/" ref="ncbi_uid=382940">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=382940" ref="ncbi_uid=382940">V</a></span></span><span class="TLline"><a href="/medgen/382940" ref="tree=GTR&amp;ncbi_uid=382940&amp;link_uid=382940" title="View MedGen record for 'Joubert syndrome 9'">Joubert syndrome 9</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2749019[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=440688">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=440688" target="_blank" href="/omim/300170">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1325/" ref="ncbi_uid=440688">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=440688" ref="ncbi_uid=440688">V</a></span></span><span class="TLline"><a href="/medgen/440688" ref="tree=GTR&amp;ncbi_uid=440688&amp;link_uid=440688" title="View MedGen record for 'Joubert syndrome 10'">Joubert syndrome 10</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280031[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=481661">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=481661" target="_blank" href="/omim/609863">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1325/" ref="ncbi_uid=481661">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=481661" ref="ncbi_uid=481661">V</a></span></span><span class="TLline"><a href="/medgen/481661" ref="tree=GTR&amp;ncbi_uid=481661&amp;link_uid=481661" title="View MedGen record for 'Joubert syndrome 13'">Joubert syndrome 13</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3280766[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=482396">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=482396" target="_blank" href="/omim/614423">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1325/" ref="ncbi_uid=482396">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=482396" ref="ncbi_uid=482396">V</a></span></span><span class="TLline"><a href="/medgen/482396" ref="tree=GTR&amp;ncbi_uid=482396&amp;link_uid=482396" title="View MedGen record for 'Joubert syndrome 14'">Joubert syndrome 14</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1846790[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=335526">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=335526" target="_blank" href="/omim/607100">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1325/" ref="ncbi_uid=335526">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=335526" ref="ncbi_uid=335526">V</a></span></span><span class="TLline"><a href="/medgen/335526" ref="tree=GTR&amp;ncbi_uid=335526&amp;link_uid=335526" title="View MedGen record for 'Joubert syndrome with renal defect'">Joubert syndrome with renal defect</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1826007" ref="tree=MeSH" title="MedGen record for Joubert syndrome and related disorders">Joubert syndrome and related disorders</a></span><ul><li><span class="TLline"><a href="/medgen/98464" ref="tree=MeSH" title="MedGen record for Familial aplasia of the vermis">Familial aplasia of the vermis</a></span><ul><li><span class="matched_ds">Joubert syndrome 7</span></li></ul></li></ul></li></ul></div></div></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/33323469">Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tang X,
Liu C,
Liu X,
Chen J,
Fan X,
Liu J,
Ma D,
Cao G,
Chen Z,
Xu D,
Zhu Y,
Jiang X,
Cheng L,
Wu Y,
Hou L,
Li Y,
Shao X,
Zheng S,
Zhang A,
Zheng B,
Jian S,
Rong Z,
Su Q,
Gao X,
Rao J,
Shen Q,
Xu H;
Chinese Children Genetic Kidney Disease Database (CCGKDD);
“Internet Plus” Nephrology Alliance of the National Center for Children’s Care</span><br />
<span class="medgenPMjournal">J Med Genet</span>
2022 Feb;59(2):147-154.
Epub 2020 Dec 15
doi: 10.1136/jmedgenet-2020-107184.
<span class="bold">PMID: </span><a href="/pubmed/33323469" target="_blank">33323469</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22joubert%20syndrome%207%22%5Btiab%3A~0%5D)%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 (1)</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/39817683">Sleep and breathing in children with Joubert syndrome and a review of other rare congenital hindbrain malformations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ju-Wang JD,
Dempsey JC,
Zhang C,
Doherty D,
Witmans M,
Tablizo MA,
Chen ML</span><br />
<span class="medgenPMjournal">Ther Adv Respir Dis</span>
2025 Jan-Dec;19:17534666241308405.
doi: 10.1177/17534666241308405.
<span class="bold">PMID: </span><a href="/pubmed/39817683" target="_blank">39817683</a><a href="/pmc/articles/PMC11748088" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34596737">Fetal ciliopathies: a retrospective observational single-center study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Simonini C,
Floeck A,
Strizek B,
Mueller A,
Gembruch U,
Geipel A</span><br />
<span class="medgenPMjournal">Arch Gynecol Obstet</span>
2022 Jul;306(1):71-83.
Epub 2021 Oct 1
doi: 10.1007/s00404-021-06265-7.
<span class="bold">PMID: </span><a href="/pubmed/34596737" target="_blank">34596737</a><a href="/pmc/articles/PMC9300526" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32139166">Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Radha Rama Devi A,
Naushad SM,
Lingappa L</span><br />
<span class="medgenPMjournal">Pediatr Neurol</span>
2020 May;106:43-49.
Epub 2020 Feb 4
doi: 10.1016/j.pediatrneurol.2020.01.012.
<span class="bold">PMID: </span><a href="/pubmed/32139166" target="_blank">32139166</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28371402">Mortality in Joubert syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Dempsey JC,
Phelps IG,
Bachmann-Gagescu R,
Glass IA,
Tully HM,
Doherty D</span><br />
<span class="medgenPMjournal">Am J Med Genet A</span>
2017 May;173(5):1237-1242.
Epub 2017 Mar 28
doi: 10.1002/ajmg.a.38158.
<span class="bold">PMID: </span><a href="/pubmed/28371402" target="_blank">28371402</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19651648">Developmental basis of the rostro-caudal organization of the brainstem respiratory rhythm generator.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Champagnat J,
Morin-Surun MP,
Fortin G,
Thoby-Brisson M</span><br />
<span class="medgenPMjournal">Philos Trans R Soc Lond B Biol Sci</span>
2009 Sep 12;364(1529):2469-76.
doi: 10.1098/rstb.2009.0090.
<span class="bold">PMID: </span><a href="/pubmed/19651648" target="_blank">19651648</a><a href="/pmc/articles/PMC2865123" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Joubert%20syndrome%207%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 (35)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/39817683">Sleep and breathing in children with Joubert syndrome and a review of other rare congenital hindbrain malformations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ju-Wang JD,
Dempsey JC,
Zhang C,
Doherty D,
Witmans M,
Tablizo MA,
Chen ML</span><br />
<span class="medgenPMjournal">Ther Adv Respir Dis</span>
2025 Jan-Dec;19:17534666241308405.
doi: 10.1177/17534666241308405.
<span class="bold">PMID: </span><a href="/pubmed/39817683" target="_blank">39817683</a><a href="/pmc/articles/PMC11748088" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34596737">Fetal ciliopathies: a retrospective observational single-center study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Simonini C,
Floeck A,
Strizek B,
Mueller A,
Gembruch U,
Geipel A</span><br />
<span class="medgenPMjournal">Arch Gynecol Obstet</span>
2022 Jul;306(1):71-83.
Epub 2021 Oct 1
doi: 10.1007/s00404-021-06265-7.
<span class="bold">PMID: </span><a href="/pubmed/34596737" target="_blank">34596737</a><a href="/pmc/articles/PMC9300526" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32139166">Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Radha Rama Devi A,
Naushad SM,
Lingappa L</span><br />
<span class="medgenPMjournal">Pediatr Neurol</span>
2020 May;106:43-49.
Epub 2020 Feb 4
doi: 10.1016/j.pediatrneurol.2020.01.012.
<span class="bold">PMID: </span><a href="/pubmed/32139166" target="_blank">32139166</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31969461">Age and sex prevalence estimate of Joubert syndrome in Italy.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Nuovo S,
Bacigalupo I,
Ginevrino M,
Battini R,
Bertini E,
Borgatti R,
Casella A,
Micalizzi A,
Nardella M,
Romaniello R,
Serpieri V,
Zanni G,
Valente EM,
Vanacore N;
JS Italian Study Group</span><br />
<span class="medgenPMjournal">Neurology</span>
2020 Feb 25;94(8):e797-e801.
Epub 2020 Jan 22
doi: 10.1212/WNL.0000000000008996.
<span class="bold">PMID: </span><a href="/pubmed/31969461" target="_blank">31969461</a><a href="/pmc/articles/PMC7136056" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25457569">Diagnostic imaging of posterior fossa anomalies in the fetus and neonate: part 2, Posterior fossa disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chapman T,
Mahalingam S,
Ishak GE,
Nixon JN,
Siebert J,
Dighe MK</span><br />
<span class="medgenPMjournal">Clin Imaging</span>
2015 Mar-Apr;39(2):167-75.
Epub 2014 Oct 22
doi: 10.1016/j.clinimag.2014.10.012.
<span class="bold">PMID: </span><a href="/pubmed/25457569" target="_blank">25457569</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Joubert%20syndrome%207%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 (50)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/37965976">The role of liver transplantation in COACH syndrome (Joubert syndrome with congenital hepatic fibrosis): A review of the literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Chen L,
Uchida H,
Komine R,
Kodama T,
Nakao T,
Okada N,
Yanagi Y,
Shimizu S,
Abbas S,
Fukuda A,
Sakamoto S,
Kasahara M</span><br />
<span class="medgenPMjournal">Pediatr Transplant</span>
2024 Feb;28(1):e14640.
Epub 2023 Nov 15
doi: 10.1111/petr.14640.
<span class="bold">PMID: </span><a href="/pubmed/37965976" target="_blank">37965976</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33486889">Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Barroso-Gil M,
Olinger E,
Ramsbottom SA,
Molinari E,
Miles CG,
Sayer JA</span><br />
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
2021 Dec;9(12):e1603.
Epub 2021 Jan 24
doi: 10.1002/mgg3.1603.
<span class="bold">PMID: </span><a href="/pubmed/33486889" target="_blank">33486889</a><a href="/pmc/articles/PMC8683696" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28860541">Functional validation of novel MKS3/TMEM67 mutations in COACH syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lee SH,
Nam TS,
Li W,
Kim JH,
Yoon W,
Choi YD,
Kim KH,
Cai H,
Kim MJ,
Kim C,
Choy HE,
Kim N,
Chay KO,
Kim MK,
Choi SY</span><br />
<span class="medgenPMjournal">Sci Rep</span>
2017 Aug 31;7(1):10222.
doi: 10.1038/s41598-017-10652-z.
<span class="bold">PMID: </span><a href="/pubmed/28860541" target="_blank">28860541</a><a href="/pmc/articles/PMC5579020" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19942698">Role of MR imaging in prenatal diagnosis of pregnancies at risk for Joubert syndrome and related cerebellar disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Saleem SN,
Zaki MS</span><br />
<span class="medgenPMjournal">AJNR Am J Neuroradiol</span>
2010 Mar;31(3):424-9.
Epub 2009 Nov 26
doi: 10.3174/ajnr.A1867.
<span class="bold">PMID: </span><a href="/pubmed/19942698" target="_blank">19942698</a><a href="/pmc/articles/PMC7963961" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9189974">Anaesthetic management of children with Joubert syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Habre W,
Sims C,
D'Souza M</span><br />
<span class="medgenPMjournal">Paediatr Anaesth</span>
1997;7(3):251-3.
doi: 10.1046/j.1460-9592.1997.d01-65.x.
<span class="bold">PMID: </span><a href="/pubmed/9189974" target="_blank">9189974</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Joubert%20syndrome%207%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 (7)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/33691693">Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ma DJ,
Lee HS,
Kim K,
Choi S,
Jang I,
Cho SH,
Yoon CK,
Lee EK,
Yu HG</span><br />
<span class="medgenPMjournal">BMC Med Genomics</span>
2021 Mar 10;14(1):74.
doi: 10.1186/s12920-021-00874-6.
<span class="bold">PMID: </span><a href="/pubmed/33691693" target="_blank">33691693</a><a href="/pmc/articles/PMC7945660" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29390414">Prenatal diagnosis of Joubert syndrome: A case report and literature review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zhu L,
Xie L</span><br />
<span class="medgenPMjournal">Medicine (Baltimore)</span>
2017 Dec;96(51):e8626.
doi: 10.1097/MD.0000000000008626.
<span class="bold">PMID: </span><a href="/pubmed/29390414" target="_blank">29390414</a><a href="/pmc/articles/PMC5758116" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29208045">Joubert's syndrome and related disorders and home-based peritoneal dialysis in East Africa: a case report.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Musiime GM,
Kinuthia DMW,
Oyatsi DP,
Manguyu W</span><br />
<span class="medgenPMjournal">BMC Res Notes</span>
2017 Dec 6;10(1):696.
doi: 10.1186/s13104-017-3033-7.
<span class="bold">PMID: </span><a href="/pubmed/29208045" target="_blank">29208045</a><a href="/pmc/articles/PMC5717851" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25407461">Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Romani M,
Mancini F,
Micalizzi A,
Poretti A,
Miccinilli E,
Accorsi P,
Avola E,
Bertini E,
Borgatti R,
Romaniello R,
Ceylaner S,
Coppola G,
D'Arrigo S,
Giordano L,
Janecke AR,
Lituania M,
Ludwig K,
Martorell L,
Mazza T,
Odent S,
Pinelli L,
Poo P,
Santucci M,
Signorini S,
Simonati A,
Spiegel R,
Stanzial F,
Steinlin M,
Tabarki B,
Wolf NI,
Zibordi F,
Boltshauser E,
Valente EM</span><br />
<span class="medgenPMjournal">Hum Genet</span>
2015 Jan;134(1):123-6.
Epub 2014 Nov 19
doi: 10.1007/s00439-014-1508-3.
<span class="bold">PMID: </span><a href="/pubmed/25407461" target="_blank">25407461</a><a href="/pmc/articles/PMC4282684" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/19057977">Cerebellar disorders in childhood: cognitive problems.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Steinlin M</span><br />
<span class="medgenPMjournal">Cerebellum</span>
2008;7(4):607-10.
Epub 2008 Dec 5
doi: 10.1007/s12311-008-0083-3.
<span class="bold">PMID: </span><a href="/pubmed/19057977" target="_blank">19057977</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Joubert%20syndrome%207%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 (18)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/39817683">Sleep and breathing in children with Joubert syndrome and a review of other rare congenital hindbrain malformations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ju-Wang JD,
Dempsey JC,
Zhang C,
Doherty D,
Witmans M,
Tablizo MA,
Chen ML</span><br />
<span class="medgenPMjournal">Ther Adv Respir Dis</span>
2025 Jan-Dec;19:17534666241308405.
doi: 10.1177/17534666241308405.
<span class="bold">PMID: </span><a href="/pubmed/39817683" target="_blank">39817683</a><a href="/pmc/articles/PMC11748088" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34596737">Fetal ciliopathies: a retrospective observational single-center study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Simonini C,
Floeck A,
Strizek B,
Mueller A,
Gembruch U,
Geipel A</span><br />
<span class="medgenPMjournal">Arch Gynecol Obstet</span>
2022 Jul;306(1):71-83.
Epub 2021 Oct 1
doi: 10.1007/s00404-021-06265-7.
<span class="bold">PMID: </span><a href="/pubmed/34596737" target="_blank">34596737</a><a href="/pmc/articles/PMC9300526" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33691693">Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ma DJ,
Lee HS,
Kim K,
Choi S,
Jang I,
Cho SH,
Yoon CK,
Lee EK,
Yu HG</span><br />
<span class="medgenPMjournal">BMC Med Genomics</span>
2021 Mar 10;14(1):74.
doi: 10.1186/s12920-021-00874-6.
<span class="bold">PMID: </span><a href="/pubmed/33691693" target="_blank">33691693</a><a href="/pmc/articles/PMC7945660" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32139166">Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Radha Rama Devi A,
Naushad SM,
Lingappa L</span><br />
<span class="medgenPMjournal">Pediatr Neurol</span>
2020 May;106:43-49.
Epub 2020 Feb 4
doi: 10.1016/j.pediatrneurol.2020.01.012.
<span class="bold">PMID: </span><a href="/pubmed/32139166" target="_blank">32139166</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29789951">Sleep in Children with Congenital Malformations of the Central Nervous System.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yates JF,
Troester MM,
Ingram DG</span><br />
<span class="medgenPMjournal">Curr Neurol Neurosci Rep</span>
2018 May 23;18(7):38.
doi: 10.1007/s11910-018-0850-6.
<span class="bold">PMID: </span><a href="/pubmed/29789951" target="_blank">29789951</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Joubert%20syndrome%207%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 (23)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1969053%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (47)</a></li>
<li><a href="/gtr/tests?term=C1969053%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (61)</a></li>
<li><a href="/gtr/tests?term=C1969053%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (14)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1969053%5bDISCUI%5d" target="_blank">See all (64)</a></total></li>
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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=(%22joubert%20syndrome%207%22%5Btiab%3A~0%5D)%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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