General Information of Disease (ID: DISX9A5W)

Disease Name Juvenile neuronal ceroid lipofuscinosis
Synonyms juvenile NCL; JNCL; juvenile neuronal ceroid lipofuscinosis; batten disease; Spielmeyer-Vogt disease
Definition
A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities.|Editor note: DO class was merged into CLN3 disease but we treat as separate since this class groups different CLNs
Disease Hierarchy
DIS9A4K4: Neuronal ceroid lipofuscinosis
DISZSG9R: Cerebral lipidosis with dementia
DISX9A5W: Juvenile neuronal ceroid lipofuscinosis