Global Variome shared LOVD

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Phenotype #0000355655 Individual ID 00470768 Associated disease GT2;BDPLT23 Phenotype details see paper; ..., lifelong epistaxis, gum bleeding, petechias, purpura; severe monorrhagia, anemia, need for whole-blood transfusion; normal coagulation assays; prolonged bleeding time; absent clot retraction; decreased glass bead retention; absent platelet aggregation in response to adenine diphosphate/pinephrine/collagen; normal initial slope of platelet aggregation in response to ristocetin, but with a diminished maximal extent. Diagnosis/Initial Glanzmann thrombasthenia Inheritance Familial, autosomal recessive Diagnosis/Definite GT2 Age/Examination 20y (20 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 17:01:48 +01:00 (CET) Date last edited N/A

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