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GTR Home > Conditions/Phenotypes > Microcephaly, growth restriction, and increased sister chromatid exchange 2

Microcephaly, growth restriction, and increased sister chromatid exchange 2

Summary

MGRISCE2 is an autosomal recessive disorder characterized by intrauterine growth restriction, poor postnatal growth with short stature and microcephaly, and increased sister chromatid exchange on cell studies. The disorder results from defective DNA decatenation. The pathogenesis of the disorder is similar to that of Bloom syndrome (BLM; 210900), but patients with mutations in the TOP3A gene do not have a malar rash (summary by Martin et al., 2018). For a discussion of genetic heterogeneity of MGRISCE, see Bloom syndrome (BLM; MGRISCE1; 210900) [from OMIM]

Available tests

6 tests are in the database for this condition.

Clinical tests (6 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MGRISCE2, PEOB5, TOP3, ZGRF7, TOP3A
    Summary: DNA topoisomerase III alpha

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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