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Infantile neuronal ceroid lipofuscinoses (INCL) or Santavuori disease or Hagberg–Santavuori disease or Santavuori–Haltia disease or Infantile Finnish type neuronal ceroid lipofuscinosis or Balkan disease is a form of NCL and inherited as a recessive autosomal genetic trait. The disorder is progressive, degenerative and fatal, extremely rare worldwide – with approximately 60 official cases reported by 1982, perhaps 100 with the condition in total today – but relatively common in Finland due to the local founder effect. Källa: Wikipedia (en)

Verk om infantil neuronal ceroidlipofuscinos

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