| 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 | |
| SKOS |
exactMatch MIM:618782 |
| Synonyms |
LQT16 [EXACT] |
| Parent Relationships |
is_a long QT syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |