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GTR Home > Conditions/Phenotypes > Immunodeficiency-centromeric instability-facial anomalies syndrome 3

Immunodeficiency-centromeric instability-facial anomalies syndrome 3

Summary

Immunodeficiency-centromeric instability-facial anomalies syndrome-3 is an autosomal recessive disorder characterized by recurrent infections in childhood and variable dysmorphic facial features. Laboratory studies show hypomethylation of certain chromosomal regions. Additional features, including delayed development, are variable (summary by Thijssen et al., 2015). For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (242860). [from OMIM]

Available tests

11 tests are in the database for this condition.

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Clinical tests (11 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ICF3, JPO1, CDCA7
    Summary: cell division cycle associated 7

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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