| Metadata | |
|---|---|
| ID | DOID:0110732 |
| Name | neuronal ceroid lipofuscinosis 11 |
| Definition | A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the GRN gene on chromosome 17q. https://www.ncbi.nlm.nih.gov/pubmed/22608501 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CLN11 [EXACT] |
| Parent Relationships |