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Immunodeficiency-centromeric instability-facial anomalies syndrome 2

Summary

Immunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disorder characterized by facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation. Laboratory studies of patient cells show hypomethylation of satellite regions of chromosomes 1, 9, and 16, as well as pericentromeric chromosomal instability in response to phytohemagglutinin stimulation (summary by de Greef et al., 2011). For a discussion of genetic heterogeneity of immunodeficiency-centromeric instability-facial anomalies syndrome, see ICF1 (242860). [from OMIM]

Available tests

22 tests are in the database for this condition.

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Clinical tests (22 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BIF1, ICF2, PATZ2, ZNF450, ZBTB24
    Summary: zinc finger and BTB domain containing 24

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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