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Neonatal adrenoleukodystrophy

Disease definition

A variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS) charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD).


Classification level: Disorder
  • Synonym(s):
    • Intermediate PBD-ZSD
    • Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
    • NALD
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal, Childhood
  • ICD-10: E71.3
  • OMIM: 202370  266510  601539  614863  614867  614871  614873  614877  614885  614920  617370
  • UMLS: C0282525
  • MeSH: D018901
  • GARD: 559
  • MedDRA: -

Detailed information

Article for general public


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