These genes include VPS13B (upregulated in humans), which is responsible for a rare developmental disease known as Cohen syndrome (Kolehmainen et al., 2003); NR4A2 (downregulated in humans), which has been implicated in neurodevelopmental language impairment (Reuter et al., 2017); DHX40 (downregulated in humans), which is implicated in AD (Taher et al., 2014); and E2F1 (upregulated in humans), which is a cell-cycle regulator associated with several neurodegenerative diseases such as AD (Zhang et al., 2010). This evidence concerns the gene VPS13B and Cohen syndrome.