Spinocerebellar ataxia, with neurodevelopmental deficits
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS | C4748120 | CACNA1G | Causal Pathogenic evidence from ClinVar | 29878067 | ClinVar |