Saethre-chotzen syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| SAETHRE-CHOTZEN SYNDROME | FGFR2 | Causal | ClinVar Disgenet GenCC HPO Orphanet | ||
| FGFR3 | Causal | — | Disgenet Orphanet | ||
| TWIST1 | Causal | CTD ClinGen ClinVar Disgenet HPO Orphanet | |||
| SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES | TWIST1 | Causal | CTD Disgenet |