Neuronal Ceroid Lipofuscinosis Type 1

**Semantic type:** Disease or Syndrome

**Definition:** A 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.

**Synonyms:** - CLN1 - Infantile Neuronal Ceroid Lipofuscinosis - Santavuori Disease