Peroxisome biogenesis disorder 5B (DOID:0081434)
Alliance: disease page
Alt IDs: OMIM:614867
Definition: A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX2 gene on chromosome 8q21.