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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