Neuronal ceroid lipofuscinosis 3
Neuronal ceroid lipofuscinosis 3
Definition
A condition associated with mutation(s) in the CLN3 gene, encoding battenin. 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 3, CLN3, CLN3 neuronal ceroid lipofuscinosis, Juvenile CLN3 Disease, neuronal ceroid lipofuscinosis 3, neuronal ceroid lipofuscinosis caused by mutation in CLN3, neuronal ceroid lipofuscinosis type 3 — per MONDO