Until now, two different clinical manifestations have been associated with PNKP mutations: a neurodevelopmental impairment (Microcephaly and Seizures, MCSZ) and neurodegenerative disorders (i.e., Ataxia-ocular motor apraxia 4, AOA4) [24]. The gene discussed is PNKP; the disease is Microcephaly - seizures - developmental delay.