Congenital myasthenic syndrome 20

Definition

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC5A7 gene.

Also known as CMS20, congenital myasthenic syndrome caused by mutation in SLC5A7, congenital myasthenic syndrome type 20, myasthenic syndrome, congenital, 20, presynaptic, SLC5A7 congenital myasthenic syndrome — per MONDO

Also identified as

• DOID 0110661 per MONDO
• OMIM 617143 per MONDO
• UMLS C4310694 per MONDO