Congenital myasthenic syndrome 1A

Definition

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNA1 gene.

Also known as CHRNA1 congenital myasthenic syndrome, CMS1A, congenital myasthenic syndrome caused by mutation in CHRNA1, congenital myasthenic syndrome type 1A — per MONDO

Also identified as

• DOID 0110663 per MONDO
• OMIM 601462 per MONDO
• UMLS C2931107 per MONDO