Jervell and Lange-Nielsen syndrome 1

General Information (adopted from Orphanet):

Synonyms, Signs: JLNS1
Deafness, congenital and functional heart disease
Surdo-cardiac syndrome
Prolonged QT intervall in EKG and sudden death
Cardioauditory syndrome of Jervell and Lange-Nielsen
Number of Symptoms 0
OMIM Id: 220400

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Jervell and Lange-Nielsen syndrome
 -Rare cardiac disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease


Jervell and Lange-Nielsen syndrome 1 is a sub-type of Jervell and Lange-Nielsen syndrome. For symptom annotation please see Jervell and Lange-Nielsen syndrome.

Symptom Information: Sort by abundance 

Associated genes:


ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The Jervell and Lange-Nielsen syndrome is an autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death (Jervell and Lange-Nielsen, 1957).
Clinical Description OMIM Jervell and Lange-Nielsen (1957) reported a family in which 4 of 6 children, born to unrelated parents, had congenital deafness and prolonged QT interval and died suddenly in childhood. Levine and Woodworth (1958) reported a boy with the ...
Molecular genetics OMIM In 3 affected children of 2 families with JLNS, Neyroud et al. (1997) detected homozygosity for a deletion-insertion event (1244, -7 +8) in the C-terminal domain of the KCNQ1 gene (607542.0013). By in situ hybridization, they found that ...
Population genetics OMIM Fraser et al. (1964) estimated that the prevalence of Jervell and Lange-Nielsen syndrome in children aged 4 to 15 years in England, Wales, and Ireland is between 1.6 and 6 per million.