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Ontology Term : Neuronal ceroid lipofuscinosis UniProtKeyword

description  Protein which, if defective, causes neuronal ceroid lipofuscinosis, a group of neurodegenerative, lysosome storage disorders characterized by intracellular accumulation of autofluorescent wax-like lipid materials in brain and other tissues. Neuronal ceroid lipofuscinoses are associated with variable yet progressive symptoms including seizures, dementia, visual loss, and/or cerebral atrophy
  • synonyms:
  • NCL,
  • CLN
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