Short stature, facial dysmorphism and skeletal anomalies with or without cardiac anomalies
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES | C4693481 | BMP2 | Causal Pathogenic evidence from ClinVar | 24289245, 29129813, 29198724 | ClinVar |