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Jervell and Lange-Nielsen syndrome
rareAn 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.
- Identifiers
- MONDO:0002441 Orphanet:90647
- Part of
- Familial long QT syndrome
- Also known as
- Cardioauditory syndrome of Jervell and Lange-Nielsen · deafness, congenital, and functional heart disease · Jervell and Lange Nielsen syndrome · Jervell and Lange-Nielsen syndrome 1 · Jervell and Lange-Nielsen syndrome type 1
Subtypes
| Disease | Subtypes |
|---|---|
| Jervell and Lange-Nielsen syndrome 1 | |
| Jervell and Lange-Nielsen syndrome 2 |
Projects
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