Strikingly, pathogenic variants in PNKP have been associated with three distinct neurological diseases (Caldecott, 2022), microcephaly with early‐onset seizures and developmental delay (MCSZ; MIM#613402; Shen et al., 2010), ataxia‐oculomotor apraxia‐4 (AOA4; MIM#616267; Bras et al., 2015; Poulton et al., 2012), and Charcot–Marie–Tooth disease type 2B2 (CMT2B2; MIM#605589) (Leal et al., 2018). This evidence concerns the gene PNKP and Microcephaly - seizures - developmental delay.