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Zellweger syndrome
Summary
- Synonym
-
- cerebrohepatorenal syndrome
- congenital iron overload
- Definition
- 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.
- Super Class
- autosomal recessive disease peroxisomal biogenesis disorder
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P28288 | ATP-binding cassette sub-family D member 3 |
