Neuronal ceroid lipofuscinosis

Orpha code: 216OMIM code:

Definicja

Neuronal ceroid lipofuscinoses (NCLs) are a group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina.

Disease data
Klasyfikacja

Clinical group

Synonimy
NCL
NCL
Kod ORPHA
216
Kod OMIM
-
Kod ICD10
E75.4
Kod ICD11
5C56.1

No additional description.

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