Congenital myasthenic syndrome 17

Definition

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene.

Also known as CMS17, congenital myasthenic syndrome caused by mutation in LRP4, congenital myasthenic syndrome type 17, LRP4 congenital myasthenic syndrome, myasthenic syndrome, congenital, type 17 — per MONDO

Also identified as

• DOID 0110674 per MONDO
• OMIM 616304 per MONDO
• UMLS C4225377 per MONDO