Jervell and Lange-Nielsen syndrome 1

Definition

Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene.

Also known as Jervell and Lange-Nielsen syndrome 1, Jervell and Lange-Nielsen syndrome caused by mutation in KCNQ1, KCNQ1 Jervell and Lange-Nielsen syndrome — per MONDO

Also identified as

• OMIM 220400 per MONDO
• UMLS C4551509 per MONDO