| Disease ID | Source | Name | Description |
| 251270 | OMIM | Microcephaly and chorioretinopathy, autosomal recessive, 1 (MCCRP1) | A syndrome characterized by microcephaly, cognitive impairment, underdeveloped retina and choroid, and epilepsy in some patients. The more anterior parts of the retina, near the periphery and pars plana, have a grayish hue and diminutive vasculature similar to retinopathy of prematurity. Visual impairment becomes evident during the first year of life. The disease is caused by variants affecting the gene represented in this entry. |