RGMA and neurodevelopmental disorder: These features were attributed to haploinsufficiency of RGMA and/or CHD2. In our cohort, only one patient had a heterozygous deletion affecting CHD2 and RGMA. Nevertheless, all of our patients had similar clinical findings, suggesting that CHD2 contributes significantly to the broad spectrum of neurodevelopmental disorders and mild dysmorphic features seen in patients with CHD2 deletions (Table 1).