Term Name: | neuronal ceroid lipofuscinosis 6A |
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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 ) |