Orphanet: Infantile neuronal ceroid lipofuscinosis

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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.


Classification level: Disorder
  • 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: -

Detailed information

Article for general public


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