Term Name:	COACH syndrome
Synonyms:	cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis, Gentile syndrome, Joubert syndrome with congenital hepatic fibrosis, Joubert syndrome with hepatic defect, JS-H
Definition:	A syndrome characterized by autosomal recessive inheritance of cerebellar vermis hypo/aplasia, oligophrenia, ataxia, ocular coloboma, and hepatic fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in one of 3 genes (TMEM67, CC2D2A, RPGRIP1L).
Ontology:	Human Disease [DOID:0111589]   ( DOID:0111589 )