Also Known As
late infantile neuronal ceroid lipofuscinosisCLN2TPP1 neuronal ceroid lipofuscinosisceroid lipofuscinosis, neuronal, type 2neuronal ceroid lipofuscinosis 2 variable age at onsetneuronal ceroid lipofuscinosis caused by mutation in TPP1neuronal ceroid lipofuscinosis type 2CLN2 diseaseCLN2 disease, juvenile (subtype)CLN2 disease, late infantile (subtype)Jansky-Bielschowsky diseaseceroid lipofuscinosis, neuronal, 2ceroid lipofuscinosis, neuronal, 2, variable Age at onsetneuronal ceroid lipofuscinosis, late infantile
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.