coach-syndrome

COACH Syndrome

COACH syndrome, also known as Joubert syndrome with hepatic defect,[1] is a rare autosomal recessive genetic disease. The name is an acronym of the defining signs: cerebellar vermis aplasia, oligophrenia, congenital ataxia, coloboma and hepatic fibrosis. The condition is associated with moderate intellectual disability.[2] It falls under the category of a Joubart Syndrome-related disorder (JSRD)

Posted September 17, 2022 by Anusha ‐ 3 min read

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