immunodeficiency-centromeric instability-facial anomalies syndrome
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.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0100137
telomere syndrome
is_a
CIID
related
immunodeficiency-centromeric instability-facial anomalies
exact
immunodeficiency-centromeric instability-facial anomalies syndrome
exact