Global Variome shared LOVD

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Phenotype #0000279486 Individual ID 00385431 Associated disease CHTD Phenotype details hypoplastic aortic arch, coarctation aorta, ventricular septal defect; mild-moderate developmental dealy; intra‐uterine growth retardation; post‐natal growth retardation; normal central nervous system; normal oral cavity; strabism; hypospadias, epicantic folds, micrognathia, small ears Diagnosis/Initial congenital heart defect Inheritance Isolated (sporadic) Diagnosis/Definite - 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 2021-10-11 14:59:36 +02:00 (CEST) Date last edited N/A

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