Arrhinia with choanal atresia and microphthalmia syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Arhinia, choanal atresia, and microphthalmia | C1863878 | SMCHD1 | Causal Pathogenic evidence from ClinVar | 28067909, 28067911, 29748383 | ClinVar |