Ocular coloboma, with or without hearing impairment, cleft lip/palate, and/or mental retardation
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION | C3805432 | YAP1 | 24462371, 28801591, 27267789 |
| Uveal coloboma-cleft lip and palate-intellectual disability | 1473 | YAP1 |