Neuronal ceroid lipofuscinosis 1
Neuronal ceroid lipofuscinosis 1
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.
Also known as ceroid lipofuscinosis neuronal 1, ceroid lipofuscinosis, neuronal, 1, ceroid lipofuscinosis, neuronal, 1, variable Age at onset, ceroid lipofuscinosis, neuronal, type 1, ceroid storage disease, CLN1, CLN1 disease, CLN1 variable age at onset, neuronal ceroid lipofuscinosis 1, neuronal ceroid lipofuscinosis caused by mutation in PPT1, neuronal ceroid lipofuscinosis type 1, PPT1 neuronal ceroid lipofuscinosis — per MONDO