Baraitser-winter cerebrofrontofacial syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| BARAITSER WINTER CEREBROFRONTOFACIAL SYNDROME | ACTB | Unknown | — | Disgenet | |
| ACTG1 | Unknown | — | Disgenet | ||
| BARAITSER-WINTER CEREBROFRONTOFACIAL SYNDROME | ACTB | Unknown | CTD ClinGen Orphanet | ||
| ACTG1 | Unknown | GWAS catalog Orphanet | |||
| BARAITSER-WINTER SYNDROME 1 | ACTB | Causal | CTD ClinVar Disgenet HPO | ||
| ACTG1 | Unknown | — | Disgenet | ||
| BARAITSER-WINTER SYNDROME 2 | ACTG1 | Causal | CTD ClinGen ClinVar Disgenet GWAS catalog HPO |