COACH syndrome
COACH syndrome
Definition
A Mendelian disease characterized by infantile ataxia with hypo/aplastic vermis, hepatic fibrocirrhosis, slender-shaped skeleton, peculiar face, and moderate intellectual disability.
Also known as cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis, gentile syndrome, Joubert syndrome with congenital hepatic fibrosis, Joubert syndrome with hepatic defect, JS-H — per MONDO