| Disease ID | Source | Name | Description |
| 617341 | OMIM | Cerebroretinal microangiopathy with calcifications and cysts 2 (CRMCC2) | An autosomal recessive, multisystemic disorder characterized by intrauterine growth retardation and, later in life, premature aging symptoms, including poor growth, graying hair, liver fibrosis, portal hypertension, esophageal varices, osteopenia, pancytopenia, hypocellular bone marrow, and vascular telangiectasia resulting in gastrointestinal bleeding. Brain calcifications and white matter changes are responsible for signs including spasticity, ataxia, or dystonia observed in some patients. The disease is caused by variants affecting the gene represented in this entry. |