Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 31/08/2006
Symbol EOD
Location 20p13
Name early onset (median age), dementia
Corresponding gene PRNP
Main clinical features ataxia, myoclonus siezures, curly prion deposits
Genetic determination multigenic
Function/system disorder neurology
psychiatric disorder
Type susceptibility factor
Gene product
Name prion
Mechanism(s)
Gene mutationChromosome rearrangementEffectComments
unknown     mutation H178R
Remark(s)