CaseF7: Male, Italy

CasePresentingHPOs: HP:0001873 (Thrombocytopenia)

HPOsFreeText: World Health Organization bleeding score is 0 (1 member); Mean platelet count is 110 ×10^9/L; Mean platelet volume is 12.1 fL, Mean platelet diameter is 2.5 μm

CaseAddInfo: N/A

CaseSanger-2:III-2: Female, Japan, Asian

CasePresentingHPOs: HP:0001873, HP:0040185 (Thrombocytopenia, Macrothrombocytopenia)

HPOsFreeText: Platelet Count at 77 (x (10^9)/l), Platelet Size at 3.7 ± 1.5 (μm), No bleeding tendency, 2 min bleeding time

CaseNotHPOs:

NotHPOsFreeText:

CaseAddInfo: Proband of Family Sanger-2, Had a sister, mother, and grandfather who had the disorder but were not genetically tested to confirm the presence or absence of her variant