Bernard-Soulier syndrome type A2 (DOID:0111059)
Alliance: disease page
Synonyms: BSSA2
Alt IDs: OMIM:153670
Definition: A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has_material_basis_in heterozygous mutations in the GP1BA gene on chromosome 17p.