Congenital myasthenic syndrome 11

Definition

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

Also known as CMS11, congenital myasthenic syndrome caused by mutation in RAPSN, congenital myasthenic syndrome type 11, RAPSN congenital myasthenic syndrome — per MONDO

Also identified as

• DOID 0110675 per MONDO
• MESH C563831 per MONDO
• OMIM 616326 per MONDO
• UMLS C4225367 per MONDO