Alternative titles and symbols : Joubert syndrome with congenital hepatic fibrosis; Cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma,
and hepatic fibrosis; Coach syndrome;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the transmembrane protein 67 gene (TMEM67, 609884.0013); Caused by mutation in the coiled-coil and C2 domains-containing protein 2A gene (CC2D2A,
612013.0006); Caused by mutation in the RPGRIP1-like gene (RPGRIP1L, 610937.0011);