Duane-radial ray syndrome
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Acro-renal-ocular syndrome | 959 | SALL4 | |
| Okihiro Syndrome | C1623209 | CHN1 | |
| MAFB | |||
| SALL4 | 26791099, 16402211, 12395297, 6426304, 12393809, 16086360, 12843316, 30067223 | ||
| Okihiro syndrome due to 20q13 microdeletion | 261638 | SALL4 | |
| Okihiro syndrome due to a point mutation | 261647 | SALL4 |