Gene:
AI325464 protein (DBSS)
Gene ID:
135174
Symbol:
RGD1307976_predicted
Species:
1182
Description:
Two novel pathogenic mutations in D-2-hydroxyglutarate dehydrogenase gene in patient with a mild presentation and asymptomatic siblings with D-2-hydroxyglutaric aciduria with a splice error (IVS4-2A-->G) and a missense mutation (c.1315A-->G;p.Asn439Asp)