Juvenile neuronal ceroid lipofuscinosis

rare

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.

Identifiers: MONDO:0019262 Orphanet:79264
Part of: Cerebral lipidosis with dementia Neuronal ceroid lipofuscinosis
Also known as: batten disease · JNCL · juvenile NCL · Spielmeyer-Vogt disease

Subtypes

All diseases Rare only

Disease	ID	Subtypes
Juvenile neuronal ceroid lipofuscinosis 1	MONDO:0979341
Juvenile neuronal ceroid lipofuscinosis 10	MONDO:0979373
Juvenile neuronal ceroid lipofuscinosis 2	MONDO:0979345
Juvenile neuronal ceroid lipofuscinosis 3	MONDO:0979346
Juvenile neuronal ceroid lipofuscinosis 5	MONDO:0979349
Juvenile neuronal ceroid lipofuscinosis 6	MONDO:0979368
Neuronal ceroid lipofuscinosis 9	MONDO:0012188
Parkinsonism due to ATP13A2 deficiency	MONDO:0017809

Projects

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