Human genes for Zellweger syndrome
Zellweger syndrome [DOID:905]
A peroxisomal biogenesis disorder that is characterized by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisome and that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes.
Synonyms: Zellweger syndrome, DOID:905, Zellweger disease, Zellweger disorder, Zellweger syndromes ...