PNKP and Cerebellar atrophy: Many affected genes participated in brain-related diseases or disorders; for example, inactivation of PNKP causes brain dysplasias, such as microcephaly and cerebellar atrophy (Bras et al., 2015), while VPS53 is associated with cerebral and cerebellar atrophy (Feinstein et al., 2014; Kohler et al., 2017).