| Metadata | |
|---|---|
| ID | DOID:0110727 |
| Name | neuronal ceroid lipofuscinosis 13 |
| Definition | A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death and has_material_basis_in homozygous or compound heterozygous mutation in the CTSF gene on chromosome 11q13. https://www.ncbi.nlm.nih.gov/pubmed/23297359 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CLN13 [EXACT] neuronal ceroid lipofuscinosis 13 Kufs type [EXACT] |
| Parent Relationships |