Fig. 1

Shared genetic etiology in neurodevelopmental disorders. a Venn diagram showing associations for 16 rare pathogenic copy number variants (CNVs) identified in disease cohorts for four neurodevelopmental disorders: intellectual disability/developmental delay (ID/DD) [4], autism [5], schizophrenia [6], and epilepsy [7]. Odds ratios for each disorder were calculated for each CNV based on the study data, with an odds ratio > 2 used to assign a CNV to a particular neurodevelopmental disorder. The grey scale bars next to the highlighted CNVs represent odds ratios (in order from left to right) for intellectual disability, autism, schizophrenia, and epilepsy. b Venn diagram showing associations for 242 genes with at least one identified de novo loss-of-function variant or single-gene deletion found in neurodevelopmental disease cohorts [10]. c A model for the contributions of genetic variants with different effect sizes towards various neurodevelopmental disorders. Variants with larger effect sizes are likely to be primary causal variants, while variants with smaller effect sizes indicate modifiers that modulate the phenotype in concert with other variants