syndromic disease autosomal recessive disease rare hereditary metabolic disease with peripheral neuropathy leukodystrophy peroxisomal disease neurometabolic disease peroxisome biogenesis disorder DOID:0080377 GARD:0009473 GARD:0011890 MESH:C531857 MESH:C536664 MONDO:0019234 NCIT:C146639 OMIMPS:214100 Orphanet:79189 PBD, ZSS PBD-ZSD PBD-ZSS PBD-Zellweger spectrum disorder Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD). SCTID:742876007 ZSD Zellweger spectrum Zellweger spectrum disorder Zellweger spectrum disorders Zellweger syndrome spectrum cerebrohepatorenal syndrome disorders of peroxisome biogenesis peroxisomal biogenesis disorders peroxisomal biogenesis disorders, Zellweger syndrome spectrum peroxisome biogenesis disorder spectrum peroxisome biogenesis disorder-Zellweger syndrome spectrum peroxisome biogenesis disorders, Zellweger syndrome spectrum