CaseExome-2:I-1: Male, Japan, Asian

CaseExome-2:I-1PresentingHPOs: HP:0001873, HP:0040185 (Thrombocytopenia, Macrothrombocytopenia)

HPOsFreeText: Platelet Count at 113 (x (10^9)/l), Platelet Size at 2.7 ± 0.9 (μm), No bleeding tendency

CaseNotHPOs:

NotHPOsFreeText:

CaseAddInfo: Father of proband, II-1

CaseExome-2:II-2: Male, Japan, Asian

CaseExome-2:II-2PresentingHPOs: HP:0001873, HP:0040185, HP:0000421 (Thrombocytopenia, Macrothrombocytopenia, Epistaxis)

HPOsFreeText: Platelet Count at 124 (x (10^9)/l), Platelet Size at 2.9 ± 0.9 (μm), No bleeding tendency

CaseNotHPOs:

NotHPOsFreeText:

CaseAddInfo: Brother of proband, II-1

CaseExome-2:II-1: Male, Japan, Asian

CaseExome-2:II-1PresentingHPOs: HP:0001873, HP:0040185 (Thrombocytopenia, Macrothrombocytopenia)

HPOsFreeText: Platelet Count at 54 (x (10^9)/l), Platelet Size at 3.1 ± 1.1 (μm), No bleeding tendency, 4.5 min bleeding time, 34% (2 μm) aggregation ADP

CaseNotHPOs:

NotHPOsFreeText:

CaseAddInfo: Proband for Family Exome-2