neuronal ceroid lipofuscinosis 6B (DOID:0110730)
Alliance: disease page
Synonyms: autosomal recessive neuronal ceroid lipofuscinosis 4A; CLN4A; neuronal ceroid lipofuscinosis 4A
Alt IDs: OMIM:204300, ICD10CM:E75.4, ORDO:228340
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.