dihydrolipoamide dehydrogenase deficiency Gene Set

Dataset OMIM Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
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)
External Link http://www.omim.org/entry/246900
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Genes

1 genes associated with the dihydrolipoamide dehydrogenase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.

Symbol Name
DLD dihydrolipoamide dehydrogenase