... manifestations that constitute a recognizable syndrome (e.g., Joubert syndrome, Bardet-Biedl syndrome, Jeune syndrome and related skeletal ... the kidneys 12 RPGRIP1L NPHP8 Pathogenic variants cause Joubert syndrome. Biallelic truncating variants generally cause the more severe ...

... 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. ...

... as a component of numerous syndromes (e.g., Joubert syndrome , Meckel-Gruber syndrome, Jeune asphyxiating thoracic dystrophy) [ Limwongse ... such as Meckel-Gruber syndrome, Bardet-Biedl syndrome , Joubert syndrome , and Jeune asphyxiating thoracic dystrophy [ Johnson et al ...

... or in Table 3 . Examples include the following: Joubert syndrome Congenital disorders of glycosylation Pontocerebellar hypoplasia [ Namavar et ... available to assist persons with severe speech deficits. Prevention of ... of AVED , Refsum syndrome, CTX, and CoQ 10 deficiency, no specific treatments ...

... July 29, 2002; Last Update: August 17, 2017. Joubert Syndrome Melissa Parisi and Ian Glass. Initial Posting: July ...