Pontocerebellar hypoplasia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| PONTOCEREBELLAR HYPOPLASIA, TYPE 11 | C4540164 | TBC1D23 | Causal Pathogenic evidence from ClinVar | 28397838, 28823706, 28823707 | ClinVar |
| PONTOCEREBELLAR HYPOPLASIA TYPE 3 (disorder) | C1842687 | PCLO | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 25832664 | - |