Immunodeficiency-centromeric instability-facial anomalies syndrome
MONDO:0000133The 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
4 clinical trials for this condition and its sub-types.
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Disease
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Hereditary disease
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Human disease
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Telomere syndrome
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Premature aging syndrome
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Autosomal recessive disease
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Disease of genetic or genomic mechanism
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Autosomal genetic disease
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