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Infantile neuronal ceroid lipofuscinosis

Disease definition

Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities.

ORPHA:79263

  • Synonym(s):
    • Hagberg-Santavuori disease
    • INCL
    • Infantile NCL
    • Santavuori disease
    • Santavuori-Haltia disease
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E75.4
  • OMIM: 214200  256730
  • UMLS: C0268281  C2931673
  • MeSH: C537948
  • GARD: -
  • MedDRA: -

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