| Metadata | |
|---|---|
| ID | DOID:0110729 |
| Name | neuronal ceroid lipofuscinosis 6A |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/15965709, https://www.ncbi.nlm.nih.gov/pubmed/15996215 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CLN6 [EXACT] neuronal ceroid lipofuscinosis 6 [EXACT] neuronal ceroid lipofuscinosis 6 variable age of onset [EXACT] |
| Parent Relationships |