| Dataset | HPO Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| Description | An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. (Human Disease Ontology, DOID_0050575) |
| External Link | http://compbio.charite.de/hpoweb/showterm?id=HP:0012321 |
| Similar Terms | |
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2 genes associated with the d-2-hydroxyglutaric aciduria phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
