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Bernard-Soulier syndrome

ORPHA:274· ICD-10 D69.1

Definition

A rare, inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination.

Prevalence
<1 / 1 000 000
Inheritance
Autosomal dominant, Autosomal recessive
Age of onset
All ages