Congenital myasthenic syndrome 6

MONDO:0009689

Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner.

Also known as: CHAT congenital myasthenic syndrome, CMS6, CMSEA, FIM, congenital myasthenic syndrome 6, congenital myasthenic syndrome caused by mutation in CHAT, congenital myasthenic syndrome type 6, presynaptic congenital myasthenic syndrome 6

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↑ Congenital nervous system disorder (284) ↑ Presynaptic congenital myasthenic syndrome (1)

Including sub-types (0) Tagged with Congenital myasthenic syndrome 6 (0)

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