Less than 30 individuals mainly harboring recurrent, de novo missense variants were reported with PPP2R5D-related neurodevelopmental disorder, a rare autosomal-dominant disorder featuring developmental delay and intellectual disability (Intellectual developmental disorder, autosomal dominant 35, MRD35, Mendelian Inheritance in Men number MIM#616355). This evidence concerns the gene PPP2R5D and neurodevelopmental disorder.