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neuronal ceroid lipofuscinosis 8 northern epilepsy variant

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision.
Uniprot Description A form of neuronal ceroid lipofuscinosis clinically characterized by epilepsy that presents between 5 and 10 years of age with frequent tonic-clonic seizures followed by progressive mental retardation. Visual loss is not a prominent feature. Intracellular accumulation of autofluorescent material results in curvilinear and granular profiles on ultrastructural analysis.
Mondo Term and Equivalent IDs
MONDO:0012391:  neuronal ceroid lipofuscinosis 8 northern epilepsy variant
GARD:0002163: 
GARD:0004010: 
Orphanet:1947: