Pyruvate dehydrogenase E2 deficiency Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Pyruvate dehydrogenase E2 deficiency is a very rare form of pyruvate dehydrogenase deficiency (PDHD, see this term) characterized by variable lactic acidosis and neurological dysfunction, mainly appearing during childhood. (Orphanet Rare Disease Ontology, Orphanet_79244)
External Link http://www.omim.org/entry/245348
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Genes

1 genes associated with the Pyruvate dehydrogenase E2 deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
DLAT dihydrolipoamide S-acetyltransferase