| Disease ID | Source | Name | Description |
| 300915 | OMIM | Microphthalmia, syndromic, 13 (MCOPS13) | A form of microphthalmia, a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS13 patients exhibit colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation. The disease is caused by variants affecting the gene represented in this entry. |