Global Variome shared LOVD

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Phenotype #0000269267 Individual ID 00374058 Associated disease CHD Inheritance Isolated (sporadic) Diagnosis/Initial congenital heart disease Age/Examination 05y10m (5 years, 10 months) Diagnosis/Definite - Age/Diagnosis - Age/Onset - Phenotype/Onset - Phenotype details birth 40w, weight 2400 gg (SD -2.48); hypoglycaemia, jaundice and hypothermia; 8w-social smile, 7m-sit, 9m-walk, 11m-first words; height 108.5 cm (SD -0.24), weight 18.9 kg (SD 0.12), OFC 48.7 cm (SD -2.69); pulmonary valvar abnormality; sparse scalp hair; premature loss of primary teeth; delayed speech and language development; microcephaly; bilateral conductive hearing impairment; broad thumb, short digit; dry skin; ectodermal dysplasia, Lipson syndrome; feeding difficulties 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 21:45:22 +02:00 (CEST) Date last edited N/A

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