| Metadata | |
|---|---|
| ID | DOID:0110721 |
| Name | neuronal ceroid lipofuscinosis 1 |
| Definition | A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34. https://www.ncbi.nlm.nih.gov/pubmed/7637805 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CLN1 [EXACT] neuronal ceroid lipofuscinosis 1 variable age of onset [EXACT] |
| Parent Relationships |