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Pelizaeus-Merzbacher-like disease

Disease definition

Pelizaeus-Merzbacher like disease (PMLD) is an autosomal recessive leukodystrophy sharing identical clinical and radiological features as X-linked Pelizaeus-Merzbacher disease (PMD; see this term).

ORPHA:280270

Classification level: Disorder
  • Synonym(s):
    • PMLD
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E75.2
  • OMIM: 260600  300523  608804  612233
  • UMLS: -
  • MeSH: -
  • GARD: 12300
  • MedDRA: -

Detailed information

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