Also Known As
CLN4CLN4B diseaseautosomal dominant Kufs diseaseautosomal dominant neuronal ceroid lipofuscinosis 4Bceroid lipofuscinosis, neuronal, 4 (Kufs type)ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominantneuronal ceroid lipofuscinosis 4 parry typeneuronal ceroid lipofuscinosis 4Bneuronal ceroid lipofuscinosis type 4Bneuronal ceroid lipofuscinosis, parry typeCLN4BKuf's disease type BKuf's disease, autosomal dominantKufs disease, autosomal dominantadult neuronal ceroid lipofuscinosis 4Bceroid lipofuscinosis, neuronal, 4B, autosomal dominantceroid lipofuscinosis, neuronal, parry 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.