Global Variome shared LOVD

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Phenotype #0000355809 Individual ID 00470946 Associated disease GT Diagnosis/Initial Glanzmann thrombasthenia Diagnosis/Definite LAD3 Phenotype details see paper; ..., severe bleeding, petechia and hematomas since childbirth, also fever and infections since childbirth; absent platelet aggregation; WHO4 bleeding score 4; moderate immunodeficiency. Inheritance Familial, autosomal recessive Age/Examination 33y (33 years) Age/Diagnosis 06y 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 2025-12-15 14:38:06 +01:00 (CET)

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