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Dermatoleukodystrophy

Disease definition

Dermatoleukodystrophy is characterised by the association of a progressive leukodystrophy marked by generalised mental and motor impairment with the presence of thickened and wrinkled skin. It has been described in a Japanese brother and sister born to healthy parents. Both patients died in early childhood.

ORPHA:1659

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: E75.2
  • OMIM: 221790
  • UMLS: C1857314
  • MeSH: C538220
  • GARD: 1813
  • MedDRA: -
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