Ritscher-schinzler syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| RITSCHER-SCHINZEL SYNDROME | WASHC5 | Causal | GWAS catalog | ||
| CCDC22 | Unknown | HPO | |||
| VPS35L | Unknown | CTD | |||
| RITSCHER-SCHINZEL SYNDROME 1 | WASHC5 | Causal | ClinGen ClinVar Disgenet GenCC HPO | ||
| DPYSL5 | Unknown | — | Disgenet | ||
| RITSCHER-SCHINZEL SYNDROME 2 | CCDC22 | Causal | ClinGen ClinVar Disgenet GWAS catalog HPO | ||
| RITSCHER-SCHINZEL SYNDROME 3 | VPS35L | Causal | — | ClinVar Disgenet GenCC HPO | |
| RITSCHER-SCHINZEL SYNDROME 4 | DPYSL5 | Causal | ClinVar Disgenet HPO |