PWP2 and Cerebral cortical atrophy: In patient NJ1050, by trio WES we identified compound heterozygous variants (c.1457G>A;p.Trp486Ter and c.1979G>A;p.Arg660Gln) in PWP2 in a 2 years old boy, who had presented with primary microcephaly (at birth 30.1cm,-3.27SD, at 1 years old 42.1cm, -4.52SD), short stature, global developmental delay, cerebral paralysis and cortical atrophy on MRI (Table 2, Fig. 3A-B).