L2HGDH, L-2-hydroxyglutarate dehydrogenase, 79944

N. diseases: 62; N. variants: 18
Disease: Extrapyramidal sign ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		0.110 GeneticVariation phenotype BEFREE L-2-Hydroxyglutaric aciduria (L-2-HGA, MIM 236792) is a rare autosomal recessive neurodegenerative disorder characterized by psychomotor delay, cerebellar and extrapyramidal signs and subcortical leukoencephalopathy with basal ganglia and dentate nuclei involvement. 18671189 2008
CUI: C0234133
Disease: Extrapyramidal sign
Extrapyramidal sign 		0.110 Biomarker phenotype HPO