Global Variome shared LOVD

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Phenotype #0000269268 Individual ID 00374059 Associated disease CHD Inheritance Isolated (sporadic) Diagnosis/Initial congenital heart disease Age/Examination 07y01m (7 years, 1 month) Diagnosis/Definite - Age/Diagnosis - Age/Onset - Phenotype/Onset - Phenotype details birth 33w, weight 1770 grams (SD -0.83); 2-2.5y-walk; length 121 cm (SD -0.08), weight 44.3 kg (SD 3.77), OFC 50.7 cm (SD -1.81); atrioventricular septal defect; prominent forehead, prominent nasal bridge, disorganised left eyebrow with both medial and lateral flare, anteverted nares, full lips, wide-spaced teeth; global developmental delay; motor delay; specific learning disability; attention deficit hyperactivity disorder; microcephaly, Arnold-Chiari type I malformation, microcephaly; nystagmus 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 21:51:18 +02:00 (CEST) Date last edited N/A

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