Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
Definition
A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.
Also known as autosomal dominant Kufs disease, ceroid lipofuscinosis, neuronal, 4 (Kufs type), ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant, CLN4, neuronal ceroid lipofuscinosis type 4B, neuronal ceroid lipofuscinosis, parry type — per MONDO