Blepharophimosis-mental retardation syndrome
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Young Simpson syndrome | C1863557 | KAT6B | 26938784, 22715153, 22077973 |
| Blepharophimosis syndrome Ohdo type | C0796094 | MED12 | |
| Blepharophimosis-intellectual disability syndrome, SBBYS type | 3047 | KAT6B | |
| Blepharophimosis-intellectual disability syndrome, MKB type | 293707 | MED12 |