Global Variome shared LOVD

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Phenotype #0000355872 Individual ID 00471009 Associated disease GT Diagnosis/Initial severe adolescent idiopathic scoliosis Diagnosis/Definite GT2 Phenotype details severe life-threatening bleeding especially epistaxis. severe gastrointestinal bleeding; absent platelet aggregation; WHO4 bleeding score 4; bone marrow transplant Inheritance Familial, autosomal recessive Age/Examination 16y (16 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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