Features include always present findings: Poor head control, Seizure, Low muscle tone (hypotonia), and Elevated lactate:pyruvate ratio and others; and common findings: Strabismus, Delayed CNS myelination, Dystonia, and Shrinkage of the cerebellum (cerebellar atrophy) and others. 34 total HPO annotations.

MDH2 encodes malate dehydrogenase 2 (338 aa). Highest expression in Muscle Skeletal (361.2 TPM) and Cells EBV-transformed lymphocytes (238.9 TPM).

Developmental and epileptic encephalopathy, 51 is associated with mutations in the MDH2 gene on chromosome 7.

The MDH2 protein participates in CS acetylates OA to citrate pathway.

MDH2 is classified as a druggable target with score 26.1.

Genetic testing for MDH2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for developmental and epileptic encephalopathy, 51 has been reported in the published literature.

Phenotype severity distribution: 11 always present features, 19 common features.

No clinical trials have been registered for developmental and epileptic encephalopathy, 51.

67 publications have been identified in PubMed for developmental and epileptic encephalopathy, 51. Research spans Epidemiology / Natural History (31%), Review / Meta-Analysis (19%), and Clinical Trial Publication (18%).