In 2021, Yap et al. reported four ATAD3A missense mutations, c.229C>G (p.Leu77Val), c.150C>G (p.Phe50Leu), c.508C>T (p.Arg170Trp), and c.707G>T (p.Gly236Val), in eight patients with developmental delay or neurological symptoms from five families [40]. This evidence concerns the gene ATAD3A and Global developmental delay.