| 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 |
| Similar Terms | |
| Downloads & Tools |
1 genes associated with the dihydrolipoamide dehydrogenase deficiency phenotype from the curated OMIM Gene-Disease Associations dataset.
| Symbol | Name |
|---|---|
| DLD | dihydrolipoamide dehydrogenase |
