Congenital myasthenic syndrome 21

Definition

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC18A3 gene.

Also known as CMS21, congenital myasthenic syndrome caused by mutation in SLC18A3, congenital myasthenic syndrome type 21, myasthenic syndrome, congenital, 21, presynaptic, SLC18A3 congenital myasthenic syndrome — per MONDO

Also identified as

• DOID 0110672 per MONDO
• OMIM 617239 per MONDO
• UMLS C4310654 per MONDO