Furthermore, the majority of human cases reported to date carrying gain or loss of Wdfy3 copy number variation (9 of 16) are affected by intellectual disability, global developmental delay and ASD (Supplementary Fig. S5), while other cases carrying either de novo nonsense or frameshift alleles, shown under Fig. 1A, have also been associated with ASD and intellectual disability8,10–12. Here, WDFY3 is linked to Global developmental delay.