Term Name: neuronal ceroid lipofuscinosis 6B
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 )

Relationships
is a type of: autosomal recessive disease neuronal ceroid lipofuscinosis