Antley-bixler syndrome with genital anomalies and disordered steroidogenesis
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS | C3150099 | POR | Causal Pathogenic evidence from ClinVar | 12116245, 14758361, 15264278, 15483095, 16470797 | ClinVar |