Figure 1. Proportion of patients with known genomic disorders in different human developmental phenotypes and healthy controls.

There is a striking enrichment of known genomic disorders in human developmental disease compared with controls (59–62, 64–67, 69–71). The prevalence in controls is based on 21,498 controls generated from previously published studies (70, 71). *The proportion of known genomic disorders in autism spectrum disorder is displayed as the weighted average of two independent studies (64, 65). CAKUT, congenital anomalies of the kidney and urinary tract.