Jervell Lange-Nielsen syndrome (JLNS) is a rare autosomal recessive disorder with congenital deafness and long-QT syndrome. Mutations in the potassium-channel gene KVLQT1 have been identified in JLNS. Recently, mutations in KCNE1 also have been found to cause JLNS.
Category
Cardiovascular disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
11 Diseases of the circulatory system
Cardiac arrhythmia
BC65 Cardiac arrhythmia associated with genetic disorder
H02091 Jervell and Lange-Nielsen syndrome
