... Search term GeneReviews Advanced Search Help < Prev Next > Joubert Syndrome Synonyms: JBTS, Joubert Syndrome and Related Disorders (JSRD), ... 2009 , Brancati et al 2010 ]. The diagnosis of Joubert syndrome is based on the presence of the following ...

... a syndrome (e.g., Bardet-Biedl syndrome and Joubert syndrome). With time, some individuals who originally presented with ... NPH-RC), the prevalence of renal disease varies. Joubert syndrome (JS). Classic JS is characterized by three primary ...

... pathogenic variants have been reported in males with Joubert syndrome, primary ciliary dyskinesia, and retinitis pigmentosa (see Table ... View in own window Disorder References OFD1 -related Joubert syndrome Coene et al [2009] , Field et al [2012] , ...

... part of syndromes including Senior-Loken syndrome and Joubert syndrome (see Table 2 ). Early molecular diagnosis can help ... waveform. NCL is assoc w/neurocognitive decline & epilepsy. Joubert syndrome >30 genes 5 AR XL 6 Presents w/ ...

... DiffDx Disorder Overlapping w/RSS Distinguishing from RSS Joubert Syndrome >30 genes 1 AR (XL, digenic) 2 ID ... Ritscher-Schinzel syndrome; XL = X-linked 1. See Joubert Syndrome . 2. Joubert syndrome is predominantly inherited in an ...

... ataxia almost universal; absence of PTHS facial features Joubert syndrome (JS) Various; >20 reported 1 AR (XL) 2 ... mode of inheritance; XL = X-linked 1. See Joubert Syndrome to view genes associated with this phenotype. 2. ...

... of a PAX gene expressed in the eye Joubert syndrome and related disorders (JSRD) >30 genes AR 5 ... al [2001] 4. Azuma et al [2003] 5. Joubert syndrome is inherited predominantly in an autosomal recessive manner. ...

... al [2001] , Triggs-Raine et al [2016] CSPP1 Joubert syndrome AR c.363_364delTA p.His121GlnfsTer22 ~100% 2 ... et al [2001] , Chong et al [2012] PIBF1 Joubert syndrome AR c.1910A>C p.Asp637Ala ~100% 2 ...

... CC2D2A CEP290 CPLANE1 MKS1 NPHP1 TMEM67 (>36 genes) Joubert syndrome (JS) AR XL 3 Retinal degeneration Polydactyly Kidney & ... 6.3% Significant clinical overlap w/other ciliopathies Joubert syndrome Leber congenital amaurosis Meckel syndrome (OMIM 611134 ) Senior- ...