|Dataset||OMIM Gene-Disease Associations|
|Category||disease or phenotype associations|
|Description||Pyruvate dehydrogenase E1-beta deficiency is an extremely rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by severe lactic acidosis, developmental delay and hypotonia. (Orphanet Rare Disease Ontology, Orphanet_255138)|
|Downloads & Tools|
1 genes associated with the pyruvate dehydrogenase e1-beta deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
|PDHB||pyruvate dehydrogenase (lipoamide) beta|