Notably, PEX12 is associated with Zellweger syndrome, which is a rare peroxisome biogenesis disorder (the most severe variant of peroxisome biogenesis disorder spectrum), characterised by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction (Konkoľová et al., 2015). Here, PEX12 is linked to Zellweger syndrome.