Global Variome shared LOVD

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Phenotype #0000269269 Individual ID 00374060 Associated disease CHD Inheritance Isolated (sporadic) Diagnosis/Initial congenital heart disease Age/Examination 04y10m (4 years, 10 months) Diagnosis/Definite - Age/Diagnosis - Age/Onset - Phenotype/Onset - Phenotype details birth-41w, weight 3685 grams (SD 0.27); abnormality of prenatal development or birth; 5w-social smile; OFC 56 cm (SD 2.19); trioventricular septal defect; sparse scalp hair, high anterior hairline, brachycephaly, depressed nasal bridge, small, widely spaced teeth, Frontal bossing; thoracic cavity stridor; deep plantar creases, 2-3 toe syndactyly, ifnger syndactyly; fragile nails, thin skin, pigmented nevi; scoliosis; generalized hypotonia; asogastric feeding Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2021-05-22 21:58:15 +02:00 (CEST) Date last edited N/A

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