Cortical dysgenesis with pontocerebellar hypoplasia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | 300570 | TUBB3 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |