Macinnes syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY | C4479431 | RPS23 | Causal Pathogenic evidence from ClinVar | 28257692 | ClinVar |
| ATG10 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |