Congenital myasthenic syndrome 18

Definition

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SNAP25 gene.

Also known as CMS18, congenital myasthenic syndrome caused by mutation in SNAP25, congenital myasthenic syndrome type 18, myasthenic syndrome, congenital, 18, myasthenic syndrome, congenital, 18, with intellectual disability and ataxia, myasthenic syndrome, congenital, type 18, SNAP25 congenital myasthenic syndrome, SNAP25-DEE — per MONDO

Also identified as

• DOID 0110683 per MONDO
• OMIM 616330 per MONDO
• UMLS C4225364 per MONDO