In this work, exome analysis coupled with model organism studies linked two variants in the RBM42 gene, c.304C>T (p.R102*) and c.1312G>A (p.A438T), to a syndromic recessive NDD characterized by severe CNS defects, dysmorphism, global development delay, and congenital cardiac defects. The gene discussed is RBM42; the disease is Neurodevelopmental delay.