UniProt ID | Protein Name | Source |
---|---|---|
P48735 | Isocitrate dehydrogenase [NADP], mitochondrial |
HPO ID | HPO Term |
---|---|
HP:0001263 | Global developmental delay |
HP:0001250 | Seizure |
HP:0012321 | D-2-hydroxyglutaric aciduria |
HP:0000006 | Autosomal dominant inheritance |
HP:0001638 | Cardiomyopathy |
HP:0001252 | Hypotonia |
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Last updated: August 19, 2024