Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY | AHDC1 | Unknown | — | Disgenet | |
| ARID1A | Unknown | — | Disgenet | ||
| ARID1B | Unknown | — | Disgenet | ||
| ATAD3A | Unknown | — | Disgenet | ||
| AUTS2 | Unknown | — | Disgenet | ||
| BCL11A | Unknown | — | Disgenet | ||
| BCOR | Unknown | — | Disgenet | ||
| CASK | Unknown | — | Disgenet | ||
| DDX3X | Unknown | — | Disgenet | ||
| DKC1 | Unknown | — | Disgenet | ||
| FGFR1 | Unknown | — | Disgenet | ||
| FLG | Unknown | — | Disgenet | ||
| FOXP1 | Unknown | — | Disgenet | ||
| FZD3 | Unknown | — | Disgenet | ||
| KCTD3 | Unknown | — | Disgenet | ||
| KIAA0586 | Unknown | — | Disgenet | ||
| KIF4A | Unknown | — | Disgenet | ||
| L1CAM | Unknown | — | Disgenet | ||
| MACF1 | Unknown | — | Disgenet | ||
| OPHN1 | Unknown | — | Disgenet | ||
| OXR1 | Unknown | — | Disgenet HPO | ||
| PLA2G6 | Unknown | — | Disgenet | ||
| PMM2 | Unknown | — | Disgenet | ||
| RARS2 | Unknown | — | Disgenet | ||
| SEMA6B | Unknown | — | Disgenet | ||
| SEPSECS | Unknown | — | Disgenet | ||
| SETD2 | Unknown | — | Disgenet | ||
| SPTAN1 | Unknown | — | Disgenet | ||
| STXBP1 | Unknown | — | Disgenet | ||
| TMLHE | Unknown | — | Disgenet | ||
| TSEN54 | Unknown | — | Disgenet | ||
| TUBA1A | Unknown | — | Disgenet | ||
| TUBB2A | Unknown | — | Disgenet | ||
| USH2A | Unknown | — | Disgenet | ||
| VLDLR | Unknown | — | Disgenet | ||
| WDR37 | Unknown | — | Disgenet |