Interestingly, the RBL2 locus has been associated with intelligence and cognitive function further strengthening its role in brain development.1, 2, 3 Our findings establish RBL2 as a candidate gene for an autosomal recessive neurodevelopmental disorder with intellectual disability, stereotypies and dysmorphic features adding variants with a monogenic effect to the allelic series. The gene discussed is RBL2; the disease is neurodevelopmental disorder.