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Immunodeficiency-centromeric instability-facial anomalies syndrome

MONDO:0000133

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

Also known as: immunodeficiency-centromeric instability-facial anomalies, immunodeficiency-centromeric instability-facial anomalies syndrome, CIID, ICF syndrome

3 clinical trials for this condition and its sub-types, 1 tagged with Immunodeficiency-centromeric instability-facial anomalies syndrome itself.

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