Neuronal ceroid lipofuscinosis 2
Neuronal ceroid lipofuscinosis 2
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.
Also known as ceroid lipofuscinosis, neuronal, type 2, CLN2, neuronal ceroid lipofuscinosis caused by mutation in TPP1, neuronal ceroid lipofuscinosis type 2, TPP1 neuronal ceroid lipofuscinosis — per MONDO