Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome | 280679 | BRCC3 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |
| MOYAMOYA DISEASE 4 WITH SHORT STATURE, HYPERGONADOTROPIC HYPOGONADISM, AND FACIAL DYSMORPHISM | C3151857 | BRCC3 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 21596366 | - |