| Disease ID | Source | Name | Description |
| 257300 | OMIM | Mosaic variegated aneuploidy syndrome 1 (MVA1) | 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. MVA1 is caused by biallelic mutations in the BUB1B gene. |
| 176430 | OMIM | Premature chromatid separation trait (PCS) | Consists of separate and splayed chromatids with discernible centromeres and involves all or most chromosomes of a metaphase. It is found in up to 2% of metaphases in cultured lymphocytes from approximately 40% of normal individuals. When PCS is present in 5% or more of cells, it is known as the heterozygous PCS trait and has no obvious phenotypic effect, although some have reported decreased fertility. Inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry. |