COACH syndrome 1

MONDO:0800103

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

18 clinical trials for this condition and its sub-types, 0 tagged with COACH syndrome 1 itself.

Where it sits in the disease tree

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