COACH syndrome (DOID:0111589)
Alliance: disease page
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
Alt IDs: OMIM:216360, MESH:C536430, ORDO:1454, UMLS_CUI:C1857662
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).