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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.

ORPHA:438114

  • 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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