Rare genetic developmental defect during embryogenesis Peroxisome biogenesis disorder-Zellweger syndrome spectrum Zellweger syndrome orphanet OMIM:214110 OMIM:614882 ICD10:Q87.8 OMIM:614883 OMIM:614862 MESH:D015211 OMIM:614886 OMIM:614887 UMLS:C0043459 OMIM:614866 OMIM:214100 Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction. Cerebrohepatorenal syndrome MedDRA:10053706 OMIM:614870 OMIM:614872 ZS OMIM:614876 OMIM:614859 Rare genetic renal disease Craniofacial anomaly with cataract Unclassified primitive or secondary maculopathy Metabolic disease with cataract Metabolic disease with pigmentary retinitis