Roberts-sc phocomelia syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Roberts-SC phocomelia syndrome | C0392475 | ESCO2 | Causal Pathogenic evidence from ClinVar | 495649, 15821733, 16380922, 18186147, 18411254, 19574259, 20101700, 31192177 | ClinVar |