Mutations in PEX14 (Peroxisomal Biogenesis Factor 14) (intronic lead variant rs6687430) underlie certain forms of Zellweger Spectrum Peroxisomal Biogenesis Disorder (MIM: 614887), a syndrome characterized by absence of functional peroxisomes and systemic neurological impairment30. Here, PEX14 is linked to Peroxisome biogenesis disorder-Zellweger syndrome spectrum.