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ICF syndrome

Disease definition

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.

ORPHA:2268

  • Synonym(s):
    • Immunodeficiency-centromeric instability-facial anomalies syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: D84.8
  • OMIM: 242860  614069  616910  616911
  • UMLS: -
  • MeSH: -
  • GARD: 2945
  • MedDRA: -

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