Multiple lines of evidence indicate a role for HERC1 in ASD: (1) it was reported that HERC1 mutations caused intellectual disability and facial dysmorphism in two Colombian siblings (Ortega-Recalde et al., 2015); (2) A nonsense variant in HERC1 was associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy (Nguyen et al., 2016); (3) importantly, mutations in HERC1 were reported to be associated with ASD in an exome sequencing study (Hashimoto et al., 2016). This evidence concerns the gene HERC1 and Cerebellar atrophy.