Global Variome shared LOVD

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Phenotype #0000355865 Individual ID 00471002 Associated disease GT Diagnosis/Initial severe adolescent idiopathic scoliosis Diagnosis/Definite GT2 Phenotype details bleeding since birth, bruising, purpura, hematomas. gastrointestinal bleeding, oropharynx bleeding, epistaxis, menorrhagia.; absent platelet aggregation; WHO4 bleeding score 4 Inheritance Familial, autosomal recessive Age/Examination 21y (21 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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