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. (DO)
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction
is comprised of a complex set of reactions and/or regulatory events, possibly involving
additional chemicals and/or gene products.
ClinVar Annotator: match by term: Cerebrohepatorenal syndrome | ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome
ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum | ClinVar Annotator: match by term: Zellweger Spectrum | ClinVar Annotator: match by term: Zellweger syndrome