Global Variome shared LOVD

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Phenotype #0000355665 Individual ID 00470778 Associated disease GT2;BDPLT23 Phenotype details see paper; ..., life-long mucocutaneous bleeding tendency, prolonged bleeding time, normal platelet count, absent clot retraction, failure platelets to aggregate with ADP/collagen/epinephrine Diagnosis/Initial Glanzmann thrombasthenia Inheritance Familial, autosomal recessive Diagnosis/Definite GT2 Age/Examination 6y (6 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2025-12-10 18:02:49 +01:00 (CET) Date last edited N/A

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