Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Disease Term | Disease ID | Gene Symbol | References |
---|---|---|---|
FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE | C3554576 | POLE | 23230001 |
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome | 352712 | POLE |