FIGURE 2.

Summary of cohort data. Genes mutated more than one time in the cohort (a). ARID1B was the most prevalent mutated gene in our cohort (n = 5), followed by ANKRD11 and GRIN2B (n = 4) other genes appearing more than one time were EFTUD2, PURA and SYNGAP1. Variant type distribution (b). Missense variants accounted for the majority (37%), followed by stopgain variants (33%), frameshift variants (23%). Less prevalent were inframe‐deletions (4%), synonymous and splice site variants (2%). Violin plot of paternal and maternal ages at conception of all analysed parents (c). The mean maternal age at conception was 33.2 years and ranged from 21 to 45 years of age. The mean paternal age was 37.7 years and ranged from 25 to 59 years of age at conception. There was one outlier; 59 years of age at conception of one father