Indicated are controls (day control cohort CCF; reference control cohort CCB), index patients (∗), and relatives, arranged per family (Fam). Further indicated are sex, global phenotype, platelet (10⁹/L), and red blood cell (10¹²/L) counts. In addition, mean defects in platelet aggregation (scored for ADP, collagen, epinephrine, and ristocetin) or in secretion marker exposure by flow cytometry, estimating SPD (FC-SPD: thrombin-induced P-selectin and CD63 expression).

Red color intensity indicates degree of reduction. Codes per measurement: 0, within the normal range; −1, below the normal range; and −2, below 50% of the normal range.

For an extended description of the patients, genetic analyses, and references, see supplemental Materials and supplemental Table 1.

AR, autosomal recessive; AD, autosomal dominant; CH, compound heterozygous; Fam, family; F, female; FC-SPD, flow cytometry-SPD; M, male; n.d., not determined; N/A, not applicable; PLT, platelet; RBC, red blood cell.