Phenotype #0000355828

Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ]
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Individual ID	00470965
Associated disease	GT
Diagnosis/Initial	Glanzmann thrombasthenia
Diagnosis/Definite	GT1
Phenotype details	severe epistaxis, easy bruising; much reduced platelet aggregation; WHO4 bleeding score 2; Hirschprung's disease
Inheritance	Familial, autosomal recessive
Age/Examination	45y (45 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Owner name	Johan den Dunnen
Database submission license
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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