In addition to the identification of this specific KIF5C syndrome, a role for other KIF5C variants in autism and intellectual disability has been supported by analysis of large-scale sequencing studies, revealing a statistically significant enrichment of KIF5C de novo variants in people with NDDs (Coe et al., 2014; Fu et al., 2022; Kaplanis et al., 2020; Wang et al., 2020). This evidence concerns the gene KIF5C and Intellectual disability.