| Disease ID | Source | Name | Description |
| 616171 | OMIM | Microcephaly and chorioretinopathy, autosomal recessive, 2 (MCCRP2) | A severe disorder characterized by microcephaly, delayed psychomotor development, growth retardation with dwarfism, and ocular abnormalities. The disease is caused by variants affecting the gene represented in this entry. |