COACH syndrome

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: JS-H, Joubert syndrome with congenital hepatic fibrosis, Joubert syndrome with hepatic defect, cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis, gentile syndrome, cerebellar vermis hypo/aplasia, oligophrenia, ataxia congenital, coloboma, and hepatic fibrosis

19 clinical trials for this condition and its sub-types, 1 tagged with COACH syndrome itself.