Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE | C3554576 | POLE | Causal Pathogenic evidence from ClinVar | 23230001 | ClinVar |
| Facial dysmorphism-immunodeficiency-livedo-short stature syndrome | 352712 | POLE | Causal Pathogenic evidence from ClinVar | - | ClinVar |