UniProt ID | Protein Name | Source |
---|---|---|
P09622 | Dihydrolipoyl dehydrogenase, mitochondrial |
HPO ID | HPO Term |
---|---|
HP:0003593 | Infantile onset |
HP:0001263 | Global developmental delay |
HP:0010695 | Sutural cataract |
HP:0002500 | Abnormal cerebral white matter morphology |
HP:0001252 | Hypotonia |
HP:0000709 | Psychosis |
HP:0004911 | Episodic metabolic acidosis |
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Last updated: August 19, 2024