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Jervell and Lange-Nielsen syndrome 1

Disease Summary
Associated Targets (2)
Tclin

1

Tdark

1


Mondo Description Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene.
Uniprot Description An autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death.
Mondo Term and Equivalent IDs
MONDO:0024540:  Jervell and Lange-Nielsen syndrome 1
UMLS:CN034131: