Term Name: | neuronal ceroid lipofuscinosis 6B |
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Synonyms: | autosomal recessive neuronal ceroid lipofuscinosis 4A, CLN4A, neuronal ceroid lipofuscinosis 4A |
Definition: | A neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive myoclonus epilepsy, ataxia, loss of motor function, dysarthria, progressive dementia, and progressive cerebral and cerebellar atrophy on brain imaging and has_material_basis_in homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23. |
Ontology: | Human Disease [DOID:0110730] ( DOID:0110730 ) |