UniProt ID | Protein Name | Source |
---|---|---|
P09622 | Dihydrolipoyl dehydrogenase, mitochondrial |
HPO ID | HPO Term |
---|---|
HP:0001332 | Dystonia |
HP:0003198 | Myopathy |
HP:0000750 | Delayed speech and language development |
HP:0011968 | Feeding difficulties |
HP:0001638 | Cardiomyopathy |
HP:0000648 | Optic atrophy |
HP:0006929 | Hypoglycemic encephalopathy |
HP:0001508 | Failure to thrive |
HP:0012758 | Neurodevelopmental delay |
HP:0001254 | Lethargy |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
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Last updated: August 19, 2024