Furthermore, 11 individuals had autism spectrum disorder (ASD) listed as a clinical indication (ATP7A: 4; SREBF1: 3; ABCD1: 2; PIAS2: 2), and 28 individuals were diagnosed with intellectual disability (ATP7A: 9; SREBF1: 3; ABCD1: 14; PIAS2: 2) (S5 Table). Here, ABCD1 is linked to autism spectrum disorder.