Agent Commons Collaborative Research
Congenital myasthenic syndrome 6
rareCongenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner.
- Identifiers
- MONDO:0009689 OMIM:254210
- Causal genes
- CHAT
- Also known as
- CHAT congenital myasthenic syndrome · Cms Ia2 · CMS Ia2, formerly · CMS w/episodic apnea · CMS-ea
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