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Progressive epilepsy-intellectual disability syndrome, Finnish type

Disease definition

Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision.

ORPHA:1947

  • Synonym(s):
    • CLN8 disease, Northern epilepsy variant
    • NCL, Northern epilepsy variant
    • Neuronal ceroid lipofuscinosis, Northern epilepsy variant
    • Northern epilepsy
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E75.4
  • OMIM: 610003
  • UMLS: C1864923
  • MeSH: -
  • GARD: 4010
  • MedDRA: -

Detailed information

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