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long QT syndrome 9

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Any long QT syndrome in which the cause of the disease is a mutation in the CAV3 gene.
Uniprot Description A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy.
Mondo Term and Equivalent IDs
MONDO:0012736:  long QT syndrome 9
GARD:0010435: 
MESH:C567515: