EN2 and autism: Nevertheless, 8 of 12 EN2-g patients have exclusively mutations in EN2 and 6 of them showed ASD of different degrees: Cases 1, 10, and 12 showed PD; Case 5 showed nuclear autism, Cases 7 and 8 showed mild autism, and Cases 4 and 2 did not show autism; suggesting a potential contribution of EN2-related developmental processes in autism physiopathology.