C84793Level 6
Jervell and Lange Nielsen Syndrome
**Semantic type:** Disease or Syndrome
**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.
**Synonyms:** - JLNS1
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