Dopa-responsive dystonia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency | C0268468 | SPR | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 11443547, 16049044, 16650784, 17159114, 22522443, 25526675, 27604308, 28189489 | - |