Global Variome shared LOVD

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Phenotype #0000279246 Individual ID 00385451 Associated disease CHTD Phenotype details see paper; ..., mild pulmonary valve stenosis, mild aortic root dilatation, atrial septal defect, ventricular septal defect, patent ductus arteriosus (closed surgically); polyvalvular syndrome, involvement both semilunar and both atrioventricular valves; hypotonia, myopia, soft pale skin, joint hypermobility, mild facial dysmorphism Diagnosis/Initial - Inheritance Isolated (sporadic) Diagnosis/Definite CHTD2 Age/Examination - 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 2021-10-12 17:12:09 +02:00 (CEST) Date last edited N/A

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