Ceroid lipofuscinosis, neuronal, 4 (Kufs type)

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: CLN4, autosomal dominant Kufs disease, ceroid lipofuscinosis, neuronal, 4 (Kufs type), ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant, neuronal ceroid lipofuscinosis type 4B, neuronal ceroid lipofuscinosis, parry type, CLN4B, Kuf's disease type B

1 clinical trial for this condition and its sub-types, 0 tagged with Ceroid lipofuscinosis, neuronal, 4 (Kufs type) itself.