proband
CaseExome-1:II-1: Female, Japan, Asian
CaseExome-1:II-1PresentingHPOs: HP:0001873, HP:0040185 (Thrombocytopenia, Macrothrombocytopenia)
HPOsFreeText: Platelet Count at 91 (x (10^9)/l), Platelet Size at 3.8 ± 1.4 (μm), No bleeding tendency
CaseNotHPOs:
NotHPOsFreeText:
CaseAddInfo:
mother
CaseExome-1:I-2: Female, Japan, Asian
CaseExome-1:I-2PresentingHPOs: HP:0001873, HP:0040185 (Thrombocytopenia, Macrothrombocytopenia)
HPOsFreeText: Platelet Count at 80 (x (10^9)/l), Platelet Size at 3.7 ± 1.1 (μm), No bleeding tendency
CaseNotHPOs:
NotHPOsFreeText:
CaseAddInfo: Mother of proband, II-1