Infantile neuronal ceroid lipofuscinosis
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Infantile neuronal ceroid lipofuscinoses (INCL) or Santavuori disease[1] or Hagberg-Santavuori disease[2] or Santavuori-Haltia disease[2] or Infantile Finnish type neuronal ceroid lipofuscinosis[3] or Balkan disease[3] 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,[4] perhaps 100 with the condition in total today[citation needed][when?] – but relatively common in Finland due to the local founder effect.
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Infantile neuronal ceroid lipofuscinosis | |
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Other names | Santavuori disease, Hagberg-Santavuori disease, Santavuori-Haltia disease, Infantile Finnish type neuronal ceroid lipofuscinosis, Balkan disease |
Specialty | Endocrinology |
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