Congenital myasthenic syndrome 7

Definition

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SYT2 gene.

Also known as CMS7, congenital myasthenic syndrome caused by mutation in SYT2, congenital myasthenic syndrome type 7, myasthenic syndrome, congenital, 7A, presynaptic, and distal motor neuropathy, autosomal dominant, SYT2 congenital myasthenic syndrome — per MONDO

Also identified as

• DOID 0110659 per MONDO
• OMIM 616040 per MONDO
• UMLS C4015038 per MONDO