Human genes for neuronal ceroid lipofuscinosis 6B
Neuronal ceroid lipofuscinosis 6B [DOID:0110730]
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.
Synonyms: neuronal ceroid lipofuscinosis 6B, DOID:0110730, autosomal recessive neuronal ceroid lipofuscinosis 4A, CLN4A, neuronal ceroid lipofuscinosis 4A