Neuronal Ceroid Lipofuscinosis
Autoszomális recesszív
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.
Más néven
ceroid lipofuscinoses; NCL
39 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- adult neuronal ceroid lipofuscinosis
- adult neuronal ceroid lipofuscinosis 1
- adult neuronal ceroid lipofuscinosis 5
- ceroid lipofuscinosis, neuronal, 4 (Kufs type)
- ceroid lipofuscinosis, neuronal, 6A
- ceroid lipofuscinosis, neuronal, 6B (Kufs type)
- congenital neuronal ceroid lipofuscinosis
- congenital neuronal ceroid lipofuscinosis 10
- infantile neuronal ceroid lipofuscinosis
- infantile neuronal ceroid lipofuscinosis 1
- infantile neuronal ceroid lipofuscinosis 2
- juvenile neuronal ceroid lipofuscinosis
- juvenile neuronal ceroid lipofuscinosis 1
- juvenile neuronal ceroid lipofuscinosis 10
- juvenile neuronal ceroid lipofuscinosis 2
- juvenile neuronal ceroid lipofuscinosis 3
- juvenile neuronal ceroid lipofuscinosis 5
- juvenile neuronal ceroid lipofuscinosis 6
- late infantile neuronal ceroid lipofuscinosis 1
- late infantile neuronal ceroid lipofuscinosis 10
- late infantile neuronal ceroid lipofuscinosis 2
- late infantile neuronal ceroid lipofuscinosis 5
- late infantile neuronal ceroid lipofuscinosis 6
- late infantile neuronal ceroid lipofuscinosis 8
- neuronal ceroid lipofuscinosis 1
- neuronal ceroid lipofuscinosis 10
- neuronal ceroid lipofuscinosis 11
- neuronal ceroid lipofuscinosis 13
- neuronal ceroid lipofuscinosis 15
- neuronal ceroid lipofuscinosis 2
- neuronal ceroid lipofuscinosis 3
- neuronal ceroid lipofuscinosis 5
- neuronal ceroid lipofuscinosis 7
- neuronal ceroid lipofuscinosis 8
- neuronal ceroid lipofuscinosis 8 northern epilepsy variant
- neuronal ceroid lipofuscinosis 9
- parkinsonism due to ATP13A2 deficiency
- progressive myoclonic epilepsy type 3
- protracted juvenile neuronal ceroid lipofuscinosis 3
