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Xeroderma pigmentosum-Cockayne syndrome complex

Disease definition

Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term).

ORPHA:220295

  • Synonym(s):
    • XP/CS complex
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q82.1  Q87.1
  • OMIM: 278730  278760  278780  610651
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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