rs1057519567, MDH2

N. diseases: 5
Disease: Global developmental delay ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 CausalMutation CLINVAR Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. 27989324 2017