Here, we report the identification of a homozygous nonsense variant [NM_001160036.2:c.460C>T:p.(Arg154∗)] in three siblings with global developmental delay, facial dysmorphism (Figures 1H–K), normal brain MRI and no epilepsy, thus expanding the phenotype in addition to expanding the mode of inheritance of RHOBTB2-related neurodevelopmental disease. Here, RHOBTB2 is linked to epilepsy.