Contents

Search

immunodeficiency centromeric instability-facial anomalies (ICF) syndrome

Epidemiology: - rare Genetics: - autosomal recessive - associated with defects in DNMT3B - centromeric heterochromatin instability involving chromosomes 1, 9, & 16 - hypomethylation of CpG sites in some regions of heterochromatin Clinical manifestations: - variable immunodeficiency - mild facial anomalies

General

genetic syndrome (multisystem disorder)

Database Correlations

OMIM 242860

References

  1. UniProt :accession Q9UBC3