Congenital myasthenic syndrome 19

Definition

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the COL13A1 gene.

Also known as CMS19, COL13A1 congenital myasthenic syndrome, congenital myasthenic syndrome caused by mutation in COL13A1, congenital myasthenic syndrome type 19, myasthenic syndrome, congenital, 19, myasthenic syndrome, congenital, type 19 — per MONDO

Also identified as

• DOID 0110673 per MONDO
• OMIM 616720 per MONDO
• UMLS C4225235 per MONDO