Congenital myasthenic syndrome 11

MONDO:0014588

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

Also known as: CMS11, RAPSN congenital myasthenic syndrome, congenital myasthenic syndrome caused by mutation in RAPSN, congenital myasthenic syndrome type 11, Cms Ie, Cms Ie, formerly, myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, myasthenic syndrome, congenital, Ie

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