Jervell and Lange-Nielsen syndrome
Findings
No curated finding names Jervell and Lange-Nielsen syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome.
Definition from the Mondo Disease Ontology (MONDO:0002441), read 2026-09-29. CC BY 4.0.
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bilateral sensorineural hearing impairmentHPOHP:0008619
- Very frequent (80% to 99% of cases)
- Profound sensorineural hearing impairmentHPOHP:0011476
- Very frequent (80% to 99% of cases)
- Prolonged QTc intervalHPOHP:0005184
- Very frequent (80% to 99% of cases)
- ArrhythmiaHPOHP:0011675
- Frequent (30% to 79% of cases)
- Loss of consciousnessHPOHP:0007185
- Frequent (30% to 79% of cases)
- Postexertional symptom exacerbationHPOHP:0030973
- Frequent (30% to 79% of cases)
- SyncopeHPOHP:0001279
- Frequent (30% to 79% of cases)
- Torsade de pointesHPOHP:0001664
- Frequent (30% to 79% of cases)
- Iron deficiency anemiaHPOHP:0001891
- Occasional (5% to 29% of cases)
- SeizureHPOHP:0001250
- Occasional (5% to 29% of cases)
- Ventricular fibrillationHPOHP:0001663
- Occasional (5% to 29% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
- Narrower terms (2)
Other names
3 names
Resolves to: Jervell and Lange-Nielsen syndrome
- Also called
- Jervell and Lange Nielsen syndromeJervell Lange-Nielsen syndromelong QT interval-deafness syndrome