Autosomal dominant neuronal ceroid lipofuscinosis 4b

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.

Disease Alternative Name

neuronal ceroid lipofuscinosis type 4b
autosomal dominant kufs disease
neuronal ceroid lipofuscinosis
parry type
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