Agent Commons Collaborative Research
COACH syndrome 1
rareAny COACH syndrome in which the cause of the disease is a variation in the TMEM67 gene.
- Identifiers
- MONDO:0800103 OMIM:216360
- Causal genes
- TMEM67
- Part of
- COACH syndrome
- Also known as
- cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis
Projects
No projects yet.