Diencephalic mesencephalic junction dysplasia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| DIENCEPHALIC MESENCEPHALIC JUNCTION DYSPLASIA | GSX2 | Unknown | — | Disgenet | |
| PCDH12 | Unknown | — | Disgenet | ||
| RNF14 | Unknown | — | Disgenet | ||
| DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA | PCDH12 | Causal | GenCC | ||
| DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1 | PCDH12 | Causal | ClinVar Disgenet GWAS catalog HPO | ||
| RNF14 | Unknown | — | Disgenet | ||
| DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 2 | GSX2 | Unknown | ClinGen ClinVar Disgenet HPO |