Congenital myasthenic syndrome 8

Definition

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

Also known as AGRN congenital myasthenic syndrome, CMS8, congenital myasthenic syndrome 8, congenital myasthenic syndrome caused by mutation in AGRN, congenital myasthenic syndrome type 8, myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, myasthenic syndrome, congenital, type 8 — per MONDO

Also identified as

• DOID 0110657 per MONDO
• OMIM 615120 per MONDO
• UMLS C3808739 per MONDO