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-intellectual disability syndrome, Finnish type, progressive epilepsy with mental retardation, northern epilepsy

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

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

: cln8

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012391 - neuronal ceroid lipofuscinosis 8 northern epilepsy variant

MONDO:0012391 - neuronal ceroid lipofuscinosis 8 northern epilepsy variant

MIM:

MIM:610003 - CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT

MIM:610003 - CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT

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

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

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