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Jervell and Lange-Nielsen syndrome

Disease Summary
Associated Targets (3)
Tclin

1

Tchem

1

Tdark

1


GARD Rare
Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0002441:  Jervell and Lange-Nielsen syndrome
GARD:0003048: 
MESH:D029593: 
NCIT:C84793: 
OMIMPS:220400: 
Orphanet:90647: 
SCTID:373905003: 
UMLS:C0022387: