Baraitser-winter syndrome
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Fryns-Aftimos Syndrome | C1853623 | ACTB | 24896178, 22366783 |
| ACTG1 | |||
| Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation | C1855722 | ACTB | 22366783, 24896178, 16685646, 25052316, 10411937, 2505231, 29788902 |
| ACTG1 | 22366783 | ||
| BARAITSER-WINTER SYNDROME 2 | C3281235 | ACTG1 | 22366783, 27240540, 26188271, 25052316, 8941379 |
| Baraitser-Winter cerebrofrontofacial syndrome | 2995 | ACTB | |
| ACTG1 |