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Late infantile neuronal ceroid lipofuscinosis

Disease definition

Late infantile neuronal ceroid lipofuscinoses (LINCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration.

ORPHA:168491

  • Synonym(s):
    • Jansky-Bielschowsky disease
    • LINCL
    • Late infantile NCL
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E75.4
  • OMIM: 204500  256730  256731  600143  601780  610127  610951
  • UMLS: C0022340
  • MeSH: -
  • GARD: -
  • MedDRA: -

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