Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000269265 Individual ID 00374056 Associated disease ? Diagnosis/Initial truncus arteriosus Diagnosis/Definite - Phenotype details uneventful pregnancy; 1d-heart murmur, cardiomegaly on chest X-ray, ECG-truncus arteriosus type I; uneventful surgical repair, asymptomatic since; 16y-no dysmorpy or any other systemic manifestations; 16-year-old sister with identical history Inheritance Familial, autosomal recessive Age/Examination 16y (16 years) Age/Diagnosis - Age/Onset 00y00m01d Phenotype/Onset heart murmur Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-05-22 20:55:10 +02:00 (CEST) Date last edited N/A

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