Up to date, two female carriers with the clinical symptoms (Gurrieri and Neri, 1991; Rump et al., 2011) and six MED12 variants, c.5898dupC, c.5922G > T, c.2312T > C, c.2545T > C, c.3443G > A, c.514G > C (Lesca et al., 2013; Bouazzi et al., 2015; Prontera et al., 2016; Popp et al., 2017; Charzewska et al., 2018; Murakami et al., 2019), have been reported with intellectual deficiency (ID) and clinical variability. Here, MED12 is linked to Intellectual disability.