PNKP mutations are associated with several human inherited disorders, including microcephaly and seizures (MCSZ), characterized by neurodevelopmental abnormalities, as well as ataxia oculomotor apraxia 4 (AOA4), and Charcot-Marie-Tooth disease (CMT2B2), both of which manifest as neurodegenerative conditions (24, 25, 26). Here, PNKP is linked to microcephaly.