Patients #263616 and #287369, both carriers of deletions encompassing a number of disease genes including PPFIBP1, showed intellectual disability and global psychomotor delay (Table 2), while no neurodevelopmental disorders were apparent in the family described by Huang et al. [4], or in patient #534262 (Table 1 and Table 2). The gene discussed is PPFIBP1; the disease is neurodevelopmental disorder.