Term Name: | neuronal ceroid lipofuscinosis 5 |
---|---|
Synonyms: | CLN5, neuronal ceroid lipofuscinosis 5 variable age of onset |
Definition: | A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22. |
Ontology: | Human Disease [DOID:0110728] ( DOID:0110728 ) |