Neuronal Ceroid Lipofuscinosis Type 4B

**Semantic type:** Disease or Syndrome

**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.

**Synonyms:** - Autosomal Dominant Kufs Disease - CLN4B - Neuronal Ceroid Lipofuscinosis, Parry Type