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
Created by	Johan den Dunnen
Date created	2025-12-10 17:01:48 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD