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GTR Home > Conditions/Phenotypes > Mosaic variegated aneuploidy syndrome 3

Mosaic variegated aneuploidy syndrome 3

Summary

MVA3 is an autosomal recessive disorder resulting from errors in chromosome segregation. Most affected individuals develop early-onset Wilms tumor and show either aneuploidy or premature chromatid separation in cells. Some patients may have additional developmental features, such as microcephaly, growth retardation, or developmental delay (summary by Yost et al., 2017). For a discussion of genetic heterogeneity of MVA, see MVA1 (257300). [from OMIM]

Available tests

5 tests are in the database for this condition.

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Clinical tests (5 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: 16E1BP, MVA3, OOMD9, OZEMA9, TRIP13
    Summary: thyroid hormone receptor interactor 13

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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