Congenital myasthenic syndrome 10

Definition

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the DOK7 gene.

Also known as CMS10, congenital muscular dystrophy merosin-positive, congenital myasthenic syndrome 10, congenital myasthenic syndrome caused by mutation in DOK7, congenital myasthenic syndrome type 10, DOK7 congenital myasthenic syndrome, myasthenic syndrome, congenital, type 10 — per MONDO

Also identified as

• DOID 0110638 per MONDO
• DOID 0110668 per MONDO
• ICD9 358.00 per MONDO
• MESH C563716 per MONDO
• OMIM 254300 per MONDO
• OMIM 609456 per MONDO
• SCTID 230687001 per MONDO
• UMLS C1850792 per MONDO