Congenital myasthenic syndrome 16

Definition

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SCN4A gene.

Also known as CMS16, congenital myasthenic syndrome caused by mutation in SCN4A, congenital myasthenic syndrome type 16, myasthenic syndrome, congenital, type 16, SCN4A congenital myasthenic syndrome — per MONDO

Also identified as

• DOID 0110682 per MONDO
• OMIM 614198 per MONDO
• UMLS C3280112 per MONDO