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GTR Home > Conditions/Phenotypes > Mosaic variegated aneuploidy syndrome 4

Summary

Mosaic variegated aneuploidy syndrome-4 (MVA4) is an autosomal recessive disorder resulting from errors in chromosome segregation. In addition to mosaic aneuploidy, patients have microcephaly, mild developmental delay, and mild maculopathy (de Wolf et al., 2021). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: CCDC84, DLNB14, MVA4, CENATAC
    Summary: centrosomal AT-AC splicing factor

Clinical features

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