Congenital myasthenic syndrome 15

Definition

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the ALG14 gene.

Also known as ALG14 congenital myasthenic syndrome, CMS15, congenital myasthenic syndrome caused by mutation in ALG14, congenital myasthenic syndrome type 15, myasthenic syndrome, congenital, 15, without tubular aggregates, myasthenic syndrome, congenital, type 15 — per MONDO

Also identified as

• DOID 0110658 per MONDO
• OMIM 616227 per MONDO
• UMLS C4015596 per MONDO