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Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition

Summary

Mosaic variegated aneuploidy syndrome-7 with inflammation and tumor predisposition (MVA7) is an autosomal recessive disorder characterized by increased susceptibility to benign and malignant neoplasms beginning in early childhood. Affected individuals show dysmorphic facies and may have early developmental delay. Patient cells show a high level of aneuploidy due to defects in cell division (Villarroya-Beltri et al., 2022). For a discussion of genetic heterogeneity of MVA, see MVA1 (257300). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: MAD1, MVA7, PIG9, TP53I9, TXBP181, MAD1L1
    Summary: mitotic arrest deficient 1 like 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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