Neuronal ceroid lipofuscinosis

Orpha code: 216OMIM code:

Definition

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
Classification

Clinical group

Synonyms
NCL
NCL
ORPHA code
216
OMIM code
-
ICD10 code
E75.4
ICD11 code
5C56.1

No additional description.

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