| Metadata | |
|---|---|
| ID | DOID:0110724 |
| Name | neuronal ceroid lipofuscinosis 8 northern epilepsy variant |
| Definition | A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in a Finnish founder mutation in the CLN8 gene on chromosome 8p23. https://www.ncbi.nlm.nih.gov/pubmed/8743986, https://www.ncbi.nlm.nih.gov/pubmed/8014963 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
EPMR [EXACT] northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant [EXACT] progressive epilepsy with mental retardation, northern epilepsy [EXACT] progressive epilepsy-intellectual disability syndrome, Finnish type [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |