Global Variome shared LOVD

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Phenotype #0000355861 Individual ID 00470998 Associated disease GT Diagnosis/Initial severe adolescent idiopathic scoliosis Diagnosis/Definite GT1 Phenotype details bleeding from birth. cleft palate surgery(at 3mo). regular gingival bleeding, epistaxis, ecchymoses and haematomas; absent platelet aggregation; WHO4 bleeding score 3 Inheritance Familial, autosomal recessive Age/Examination 15y (15 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-12-14 21:30:56 +01:00 (CET) Date last edited N/A

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