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). The gene discussed is PEX12; the disease is peroxisome biogenesis disorder.