neuronal ceroid lipofuscinosis 8 northern epilepsy variant

Summary

DOID:0110724 - neuronal ceroid lipofuscinosis 8 northern epilepsy variant

Disease Ontology 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.

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,

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

OMIM:

MIM:610003 - ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant

MIM:610003 - ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), neuronal ceroid lipofuscinosis (is_a)