COACH syndrome 1

Definition

Any COACH syndrome in which the cause of the disease is a variation in the TMEM67 gene.

Also known as cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis — per MONDO

Also identified as

• OMIM 216360 per MONDO
• UMLS C5435651 per MONDO