Mutations in this gene have been shown to cause a ciliopathy indistinguishable to Joubert syndrome.
This gene was originally considered as a candidate gene for Joubert syndrome, an autosomal recessive disorder with cerebellar hypoplasia as a leading feature.
Down syndrome | Tourette syndrome | Asperger syndrome | Marfan syndrome | Down Syndrome | Turner syndrome | Down's syndrome | Brian Joubert | Asperger's syndrome | Williams syndrome | Stockholm syndrome | Severe acute respiratory syndrome | Rett syndrome | John Joubert | Irukandji syndrome | Chronic fatigue syndrome | Wiskott–Aldrich syndrome protein | Tourette Syndrome Association | syndrome | severe acute respiratory syndrome | Premenstrual syndrome | Le syndrome de Peter Pan | Alport syndrome | Usher syndrome | The China Syndrome | Sudden Infant Death Syndrome | Stockholm Syndrome (band) | Stockholm Syndrome | Stickler syndrome | Stevens–Johnson syndrome |