Orphanet: Jervell and Lange Nielsen syndrome

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Jervell and Lange-Nielsen syndrome

Disease definition

A rare, severe, familial long QT syndrome characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval on electrocardiogram and life-threatening ventricular tachyarrhythmias.


Classification level: Disorder
  • Synonym(s):
    • Long QT interval-deafness syndrome
    • Long QT interval-hearing loss syndrome
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: I45.8
  • OMIM: 220400  612347
  • UMLS: C0022387
  • MeSH: D029593
  • GARD: 3048
  • MedDRA: 10057936

Detailed information


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