Term Name: neuronal ceroid lipofuscinosis 6A
Synonyms: CLN6, neuronal ceroid lipofuscinosis 6, neuronal ceroid lipofuscinosis 6 variable age of onset
Definition: A neuronal ceroid lipofuscinosis that is characterized by progressive decline of neurologic function, including visual deterioration in most, cognitive impairment, loss of motor function, and seizures and has_material_basis_in homozygous mutation in the CLN6 gene on chromosome 15q21-q23.
Ontology: Human Disease [DOID:0110729]   (DOID:0110729)

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