Fig. 1: Physical health conditions of individuals with fragile X syndrome (FXS).

a Receiver operating characteristic curve of classifier performance identifying individuals with FXS using physical health conditions. Area under the receiver operating characteristic curve (AUROC) shows there are significant differences between physical health conditions of patients with FXS and the general population (p value = 1.3e-13). b Manhattan plots of unadjusted −log₁₀ (P values) for phenotypes observed in individuals with FXS. Each point shows one phenotype. Blue line shows the significance threshold (p < 0.05), all phenotype above the line are associated with FXS. Red line shows the threshold for multiple comparisons adjustment (p < 0.00005). All phenotypes above the red line survived adjustments for multiple comparisons (39 codes). c Odds ratio and 95% confidence interval for phenotypes associated with FXS in multiple cases (26 codes) that survived adjustment for multiple comparisons.