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Juvenile neuronal ceroid lipofuscinosis

Disease definition

Juvenile neuronal ceroid lipofuscinoses (JNCLs) are a genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs; see this term) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities.

ORPHA:79264

  • Synonym(s):
    • Batten disease
    • JNCL
    • Juvenile NCL
    • Spielmeyer-Vogt disease
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: E75.4
  • OMIM: 204200  204500  256730  600143  609055  610127
  • UMLS: -
  • MeSH: -
  • GARD: 5897
  • MedDRA: 10052073

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