Peroxisome biogenesis disorder 10B (DOID:0081440)
Alliance: disease page
Alt IDs: OMIM:617370
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 compound heterozygous mutation in the PEX3 gene on chromosome 6q24.