CaseSanger-1:I-1: Male, Japan, Asian

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

HPOsFreeText: Platelet Count at 131 (x (10^9)/l), Platelet Size at 4.2 ± 1.3 (μm), No bleeding tendency, 1 min bleeding time, 49% (2 μm) aggregation ADP

CaseNotHPOs:

NotHPOsFreeText:

CaseAddInfo: Father of proband, II-1

CaseSanger-1:II-2: Female, Japan, Asian

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

HPOsFreeText: Platelet Count at 97 (x (10^9)/l), Platelet Size at 3.6 ± 1.4 (μm), No bleeding tendency, 74% (2 μm) aggregation ADP

CaseNotHPOs:

NotHPOsFreeText:

CaseAddInfo: Sister of Proband, II-1

CaseSanger-1:II-1: Female, Japan, Asian

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

HPOsFreeText: Platelet Count at 120 (x (10^9)/l), Platelet Size at 3.9 ± 1.6 (μm), No bleeding tendency, 66% (2 μm) aggregation ADP

CaseNotHPOs:

NotHPOsFreeText:

CaseAddInfo: Proband for Family Sanger-1