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

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/242860