label: Bernard-Soulier syndrome, type A2, autosomal dominant
label_lc: bernard-soulier syndrome, type a2, autosomal dominant
description: "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."