Homozygous PPP2R3C mutations were found to cause 46, XY gonadal dysgenesis, with patients presenting with female external genitalia despite an XY karyotype, a hypoplastic uterus, dysmorphic features, a common facial gestalt, myopathy and a thick muscular build, neuromotor delay, and intellectual disability (Guran et al., 2019) (OMIM#618419). Here, PPP2R3C is linked to Intellectual disability.