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. The gene discussed is PEX14; the disease is peroxisome biogenesis disorder.