| Dataset | DisGeNET Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | disease |
| 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 | https://www.disgenet.org/browser/0/1/0/C1833429 |
| Similar Terms | |
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6 genes associated with the disease D-2-Hydroxyglutaric Aciduria in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
