Search Ontology:
Human Disease

neuronal ceroid lipofuscinosis 8 northern epilepsy variant

Term ID
DOID:0110724
Synonyms
  • EPMR
  • northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant
  • progressive epilepsy with mental retardation, northern epilepsy
  • progressive epilepsy-intellectual disability syndrome, Finnish type
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. (2)
References
  • GARD:2163
  • GARD:4010
  • ICD10CM:E75.4
  • MIM:610003
  • ORDO:1947
Ontology
Human Disease   ( DOID:0110724 )
Relationships
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Genes Involved
Zebrafish Models