Jervell and Lange-Nielsen syndrome 1

MONDO:0024540

Any Jervell and Lange-Nielsen syndrome in which the cause of the disease is a mutation in the KCNQ1 gene.

Also known as: Jervell and Lange-Nielsen syndrome, Jervell and Lange-Nielsen syndrome 1, Jervell and Lange-Nielsen syndrome caused by mutation in KCNQ1, KCNQ1 Jervell and Lange-Nielsen syndrome, Cardioauditory syndrome of Jervell and Lange-Nielsen, JLNS1, Surdo-Cardiac syndrome, deafness, congenital, and functional heart disease

1 clinical trial for this condition and its sub-types, 1 tagged with Jervell and Lange-Nielsen syndrome 1 itself.

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Where it sits in the disease tree

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↑ Jervell and Lange-Nielsen syndrome (2)

Including sub-types (1) Tagged with Jervell and Lange-Nielsen syndrome 1 (1)

Not yet finished but already full! 1

Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC

Jervell and Lange-Nielsen syndrome 1

Where it sits in the disease tree

Newborn screening study aims to catch rare diseases at birth