Dystonia with optic atrophy and basal ganglia abnormalities
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES | C4310634 | MECR | Causal Pathogenic evidence from ClinVar | 27817865 | ClinVar |