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Neuronal ceroid lipofuscinosis 1
rareA condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.
- Identifiers
- MONDO:0009744 OMIM:214200OMIM:256730Orphanet:228329
- Causal genes
- PPT1
- Part of
- Neuronal ceroid lipofuscinosis
- Also known as
- ceroid lipofuscinosis neuronal 1 · ceroid lipofuscinosis, neuronal, 1 · ceroid lipofuscinosis, neuronal, 1, variable Age at onset · ceroid lipofuscinosis, neuronal, type 1 · ceroid storage disease
Subtypes
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