Extended Data Fig. 1 |. Impact of RGDs on neuropsychiatric domains.

a, Many RGDs impact cognition, measured by IQ. For CNVs, the decrease in IQ (x axis) can be predicted by considering the pLI score of the genes within the CNV. CNVs that are predicted to markedly reduce IQ are more likely to be de novo (y axis), based on logistic regression (blue line) of 2,743 CNVs detected in patients with neurodevelopmental disorders and the general population (gray distributions at top and bottom). Updated analysis from ref. ⁵⁴. b, In Fig. 2, we show the odds ratio for ID/NDD, ASD and SCZ across different CNV loci. Here, we show an equivalent plot for single-gene RGDs. Insufficient control data exist to estimate odds ratio, and therefore we show the percentage of cases with ID/NDD, ASD, and IE based on curated publication review applied equally across genes (https://dbd.geisingeradmi.org) with the number of cases are shown in parentheses (see Supplementary Table 2 for numbers). Abbreviations: ID, intellectual disability; NDD, neurodevelopmental delay; ASD, autism spectrum disorder; SCZ, schizophrenia; IE, infantile epilepsy; pLI, probability loss-of-function intolerant.