Congenital pontocerebellar hypoplasia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| CONGENITAL PONTOCEREBELLAR HYPOPLASIA | CDC40 | Causal | — | Disgenet | |
| HEATR5B | Causal | — | Disgenet | ||
| PPIL1 | Causal | — | Disgenet | ||
| PRDM13 | Unknown | — | Disgenet | ||
| TOE1 | Unknown | — | Disgenet | ||
| CONGENITAL PONTOCEREBELLAR HYPOPLASIA TYPE 1 | EXOSC3 | Causal | — | Disgenet | |
| VRK1 | Causal | — | Disgenet | ||
| AGTPBP1 | Unknown | — | Disgenet | ||
| EXOSC8 | Unknown | — | Disgenet | ||
| EXOSC9 | Unknown | — | Disgenet | ||
| SLC25A46 | Unknown | — | Disgenet | ||
| CONGENITAL PONTOCEREBELLAR HYPOPLASIA TYPE 10 | CLP1 | Unknown | — | Disgenet | |
| CONGENITAL PONTOCEREBELLAR HYPOPLASIA TYPE 7 | MINPP1 | Unknown | — | Disgenet | |
| MUTYH | Unknown | — | Disgenet | ||
| TOE1 | Unknown | — | Disgenet | ||
| CONGENITAL PONTOCEREBELLAR HYPOPLASIA TYPE 8 | CHMP1A | Unknown | — | Disgenet |