COACH syndrome

MONDO:0100349

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

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