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RARS-related autosomal recessive hypomyelinating leukodystrophy

Disease definition

A rare, genetic leukodystrophy characterized by developmental delay, increased muscle tone leading later to spasticity, mild ataxia, nystagmus, dysarthria, intentional tremor, and mild intellectual disability. Brain imaging reveals supratentorial and infratentorial hypomyelination.


  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Infancy
  • ICD-10: E75.2
  • OMIM: 616140
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

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