Jervell and Lange-Nielsen syndrome 1
Findings
No curated finding names Jervell and Lange-Nielsen syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene.
Definition from the Mondo Disease Ontology (MONDO:0024540), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
3 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.
- Congenital sensorineural hearing impairmentHPOHP:0008527
- 9 of 9 reported patients · Congenital onset
- Prolonged QTc intervalHPOHP:0005184
- 9 of 9 reported patients
- SyncopeHPOHP:0001279
- 9 of 9 reported patients
Genes
1 gene
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.
- KCNQ1HGNC:6294
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
2 names
Resolves to: Jervell and Lange-Nielsen syndrome 1
- Also called
- Jervell and Lange-Nielsen syndrome caused by mutation in KCNQ1KCNQ1 Jervell and Lange-Nielsen syndrome