|Dataset||OMIM Gene-Disease Associations|
|Category||disease or phenotype associations|
|Description||Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease. (Orphanet Rare Disease Ontology, Orphanet_2394)|
|Downloads & Tools|
1 genes associated with the dihydrolipoamide dehydrogenase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.