Term Name: neuronal ceroid lipofuscinosis 3
Synonyms: Batten disease, CLN3, juvenile neuronal ceroid lipofuscinosis
Definition: A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11.
Ontology: Human Disease [DOID:0110731]   ( DOID:0110731 )

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