| Metadata | |
|---|---|
| ID | DOID:0110730 |
| Name | neuronal ceroid lipofuscinosis 6B |
| Definition | A neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive myoclonus epilepsy, ataxia, loss of motor function, dysarthria, progressive dementia, and progressive cerebral and cerebellar atrophy on brain imaging and has_material_basis_in homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23. https://www.ncbi.nlm.nih.gov/pubmed/15965709, https://www.ncbi.nlm.nih.gov/pubmed/21549341 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive neuronal ceroid lipofuscinosis 4A [EXACT] CLN4A [EXACT] neuronal ceroid lipofuscinosis 4A [EXACT] |
| Parent Relationships |