| Metadata | |
|---|---|
| ID | DOID:0110728 |
| Name | neuronal ceroid lipofuscinosis 5 |
| Definition | A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22. https://www.ncbi.nlm.nih.gov/pubmed/15965709, https://www.ncbi.nlm.nih.gov/pubmed/9662406 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CLN5 [EXACT] neuronal ceroid lipofuscinosis 5 variable age of onset [EXACT] |
| Parent Relationships |