| Disease ID | Source | Name | Description |
| 615877 | OMIM | Microphthalmia/coloboma and skeletal dysplasia syndrome (MCSKS) | A disease characterized by bilateral colobomatous microphthalmia or bilateral anophthalmia, associated with skeletal dysplasia in some cases. Additional ocular findings include microcornea, cataracts, corectopia and nystagmus. Intellectual disability is present in some patients. The disease is caused by variants affecting the gene represented in this entry. |