congenital nervous system disorder eye degenerative disease developmental anomaly of metabolic origin peroxisomal disease with epilepsy peroxisome biogenesis disorder Zellweger syndrome Curator note: this refers to the severe form of Zellweger spectrum, see https://github.com/monarch-initiative/mondo-build/issues/61 DOID:905 GARD:0007917 ICD10:E71.510 ICD10:Q87.8 MESH:D015211 MONDO:0019609 NCIT:C85239 Orphanet:912 SCTID:88469006 UMLS:C0043459 ZS ZWS Zellweger leukodystrophy Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction. cerebrohepatorenal syndrome congenital iron overload peroxisome biogenesis disorder nephropathy secondary to a storage or other metabolic disease systemic disease with cataract unclassified primitive or secondary maculopathy metabolic disease with cataract metabolic disease with pigmentary retinitis