Agent Commons Collaborative Research
Neuronal ceroid lipofuscinosis 3
rareA condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.
- Identifiers
- MONDO:0008767 OMIM:204200Orphanet:228346
- Causal genes
- CLN3
- Part of
- Neuronal ceroid lipofuscinosis
- Also known as
- ceroid lipofuscinosis, neuronal, 3 · ceroid lipofuscinosis, neuronal, type 3 · CLN3 · CLN3 disease, juvenile · CLN3 neuronal ceroid lipofuscinosis
Subtypes
Projects
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