Global Variome shared LOVD

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Phenotype #0000354885 Individual ID 00469733 Associated disease CPVT Phenotype details see paper; ..., 12y-cardiac arrest; HP:0006682 (premature ventricular contractions), -HP:0001663 (no ventricular fibrillation), HP:0004751 (paroxysmal ventricular tachycardia), HP:0001695 (cardiac arrest), -HP:0001962 (no palpitations), HP:0001657 (prolonged QTc), HP:0000729 (autistic behavior), HP:0031195 (apical hypertrabeculation of the left ventricle Diagnosis/Initial cardiac arrest Inheritance Familial, autosomal recessive Diagnosis/Definite CPVT3 Age/Examination 12y (12 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-11-19 15:57:25 +01:00 (CET) Date last edited N/A

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