neuronal ceroid lipofuscinosis 3
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. [ http://purl.obolibrary.org/obo/ECO_0007637 http://purl.obolibrary.org/obo/ECO_0007645 ]
Term info
neuronal ceroid lipofuscinosis 3
- Batten disease
- CLN3
- juvenile neuronal ceroid lipofuscinosis
DO_FlyBase_slim
DOID:0050756
disease_ontology
DOID:0110731