The frequency of HH diagnosis was 24.4% in male p.Cys282Tyr homozygotes and 3.5% in male p.[Cys282Tyr];[His63Asp] compound heterozygotes (p < 0.001), whereas the diagnostic rate was 14.0% in female p.Cys282Tyr homozygotes and 2.3% in female compound heterozygotes (p < 0.001). A summary of the differences in diagnostic rate and relevant phenotypes of HH across genotypes is shown in Table 2, and a comprehensive list of phenotypes is shown in Table S3. The diagnostic rates by genotype and study site are shown in Table S4. The Kaplan-Meier curve (Figure 1) demonstrates the frequency of HH diagnoses by age and sex for p.Cys282Tyr homozygotes and p.[Cys282Tyr];[His63Asp] compound heterozygotes separately.