The subjects reported with PPP2R1A-related neurodevelopmental disorder (NDD) show a consistent neurological phenotype (corpus callosum hypoplasia, epilepsy, moderate-to-severe intellectual disability, and ventriculomegaly) but the clinical spectrum is expanding and extraneurological features, such as congenital heart disease, have recently been reported [8]. This evidence concerns the gene PPP2R1A and Intellectual disability.