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GTR Home > Conditions/Phenotypes > Mosaic variegated aneuploidy syndrome 2

Mosaic variegated aneuploidy syndrome 2

Summary

Mosaic variegated aneuploidy syndrome is an autosomal recessive disorder characterized by poor growth and variable phenotypic manifestations, such as facial dysmorphism and congenital heart defects, associated with mosaic aneuploidies resulting from defects in cell division (summary by Snape et al., 2011). See also MVA1 (257300), caused by mutation in the BUB1B gene (602860) on chromosome 15q15. [from OMIM]

Available tests

10 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MVA2, PIG8, TSP57, CEP57
    Summary: centrosomal protein 57

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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