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Up to: Syndromic disease · Autosomal recessive disease · Hereditary peripheral neuropathy · Leukodystrophy · Peroxisomal disease
Peroxisome biogenesis 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).
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Zellweger spectrum disorders 6 trials · 7 incl. sub-types Sub-types →
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Non-Zellweger spectrum disorder 0 trials · 1 incl. sub-types Sub-types →