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Congenital neuronal ceroid lipofuscinosis

Disease definition

Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy.

ORPHA:168486

  • Synonym(s):
    • Congenital NCL
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E75.4
  • OMIM: 610127
  • UMLS: C0027877  C1864670
  • MeSH: -
  • GARD: -
  • MedDRA: -

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