Due to its association with MCPH, ANKLE2 is sometimes called MCPH16 – the clinical name for ‘microcephaly 16, primary, autosomal recessive’, the disorder caused by mutations in ANKLE2. Additional studies have expanded the range of ANKLE2 mutations and allele combinations associated with this disease (Fig. 4 and Table 1) (Link et al., 2019; Masih et al., 2022; Thomas et al., 2022). The gene discussed is ANKLE2; the disease is microcephaly.