Partially overlapping phenotypes were observed in individuals with pathogenic variants in NAT genes, including developmental delay, intellectual disability, congenital heart disease and autism spectrum disorder (NAA10 and NAA15)46–51, developmental delay, intellectual disability, and microcephaly (NAA2052,53), developmental delay (NAA30)54, hearing loss, muscle weakness and developmental delay (NAA80, the actin-specific NAT)55,56. This evidence concerns the gene BRD2 and Global developmental delay.