pyruvate dehydrogenase e1-beta deficiency Gene Set

Dataset OMIM Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
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)
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1 genes associated with the pyruvate dehydrogenase e1-beta deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

Symbol Name
PDHB pyruvate dehydrogenase (lipoamide) beta