Macrocephaly, macrosomia, and facial dysmorphism syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| MACROCEPHALY, MACROSOMIA, AND FACIAL DYSMORPHISM SYNDROME | C3280095 | RNF135 | Causal Pathogenic evidence from ClinVar | 17632510, 26368817 | ClinVar |