| Disease ID | Source | Name | Description |
| 616335 | OMIM | Microcephaly and chorioretinopathy, autosomal recessive, 3 (MCCRP3) | A disorder characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus. Variable ocular anomalies include microphthalmia, retinal folding, retinal detachment, optic nerve hypoplasia, absence of retinal vessels, round areas of chorioretinal atrophy, and attenuated electroretinogram. Most patients have mild developmental delay and mild learning difficulties. The disease is caused by variants affecting the gene represented in this entry. |