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Hereditary neurocutaneous malformation

Disease definition

A disorder characterised by the association of cerebral and cutaneous angiomatous lesions. It has been described in less than 10 families. Clinical manifestations of the cerebral lesions include epilepsy, cerebral haemorrhage, and focal neurological deficit. Transmission is autosomal dominant.


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Childhood
  • ICD-10: D18.0
  • OMIM: 106070
  • UMLS: C1275084
  • MeSH: C536364
  • GARD: 676
  • MedDRA: -
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