Term Name: | neuronal ceroid lipofuscinosis 3 |
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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 ) |