| Disease ID | Source | Name | Description |
| 614114 | OMIM | Mosaic variegated aneuploidy syndrome 2 (MVA2) | A severe developmental disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and leukemia reported in several cases. The disease is caused by variants affecting the gene represented in this entry. |