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C85864Level 8

Neuronal Ceroid Lipofuscinosis Type 2

**Semantic type:** Disease or Syndrome

**Definition:** A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.

**Synonyms:** - CLN2 - Late Infantile Neuronal Ceroid Lipofuscinosis

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