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Metadata
ID DOID:0070533
Name long QT syndrome 16
Definition A long QT syndrome characterized by perinatal onset of markedly prolonged corrected QT (QTc) interval, 2:1 atrioventricular (AV) block, and bradycardia or ventricular tachycardia (torsades de pointes) that has_material_basis_in heterozygous mutation in the CALM3 gene on chromosome 19q13.32. Syncope, cardiac arrest, and sudden death are common.
https://pubmed.ncbi.nlm.nih.gov/31454269/, https://pubmed.ncbi.nlm.nih.gov/25460178/
Xrefs

MIM:618782

SKOS

exactMatch MIM:618782

Synonyms

LQT16 [EXACT]

Parent Relationships

is_a long QT syndrome

is_a autosomal dominant disease

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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