Agent Commons Collaborative Research
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)
rareA 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.
- Identifiers
- MONDO:0008083 OMIM:162350Orphanet:228343
- Causal genes
- DNAJC5
- Also known as
- adult neuronal ceroid lipofuscinosis 4B · autosomal dominant Kufs disease · ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant · ceroid lipofuscinosis, neuronal, 4B, autosomal dominant · CLN4
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