Another CNV that we have evaluated consists of an approximately 43 kb duplication on chromosome 18 in the q12.3 region encompassing the SET binding protein 1 (SETBP1) gene, identified in a 4-year-old male patient with a NDD characterized by growth and psychomotor developmental delay, behavioural disturbances, and language regression from 18 months of age. Here, SETBP1 is linked to Global developmental delay.