Global Variome shared LOVD

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Phenotype #0000326306 Individual ID 00436122 Associated disease ? Diagnosis/Initial - Diagnosis/Definite - Phenotype details see paper; ..., aortic hypoplasia, atrial septal defect, ventricular septal defect, mitral valve stenosis, dilatation pulmonary trunk and ductus arteriosus; no renal anomalies; shortening all extremities Mild facial dysmorphism, hypertelorism, prominent folds at the inner sides of the eyes, ventriculomegaly with unaffected cerebellum Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - 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 2023-08-11 10:19:30 +02:00 (CEST) Date last edited N/A

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