neuronal ceroid lipofuscinosis
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.
MONDO:0019245
lysosomal lipid storage disorder
is_a
MONDO:0024237
inherited neurodegenerative disorder
is_a
NCL
exact
ceroid lipofuscinoses
exact
neuronal ceroid lipofuscinosis
exact
SPBC1773.09c SPBC11B10.05c SPBC530.12c SPAC607.09c