| Metadata | |
|---|---|
| ID | DOID:0081326 |
| Name | oxoglutarate dehydrogenase deficiency |
| Definition | An amino acid metabolic disorder that is characterized by infantile and pediatric onset basal ganglia-associated movement disorders, hypotonia, developmental delays, ataxia, and seizures and that has_material_basis_in homozygous mutation in the oxoglutarate dehydrogenase gene (OGDH) on chromosome 7p13. https://pubmed.ncbi.nlm.nih.gov/32383294/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
alpha-ketoglutarate dehydrogenase deficiency [EXACT] Oxoglutaric aciduria [EXACT] |
| Parent Relationships |