| Metadata | |
|---|---|
| ID | DOID:0110723 |
| Name | neuronal ceroid lipofuscinosis 8 |
| Definition | A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in homozygous or compound heterozygous mutation in the CLN8 gene on chromosome 8p23. https://www.ncbi.nlm.nih.gov/pubmed/15024724, https://www.ncbi.nlm.nih.gov/pubmed/15074367, https://www.ncbi.nlm.nih.gov/pubmed/15965709 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CLN8 [EXACT] |
| Parent Relationships |