Human genes for COACH syndrome
COACH syndrome [DOID:0111589]
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).
Synonyms: COACH syndrome, COACH disease, COACH disorder, COACH syndromes, DOID:0111589 ...