| 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 | |
| Subclass Logical Relationships |
has phenotype some Increased neuronal autofluorescent lipopigment has symptom some seizure has symptom some loss of vision disease has feature some personality disorder has material basis in some autosomal recessive inheritance |