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GENATLAS PHENOTYPE
last update : 01-04-2014
Symbol ICAS
Location 3p22.1
Name asplenia, isolated congenital
Corresponding gene RPSA
Main clinical features
  • rare cause of primary immunodeficiency, isolated
  • most affected individuals die of severe bacterial infections in early childhood
  • Genetic determination autosomal recessive
    autosomal dominant
    Function/system disorder hematology
    Type disease
    Remark(s)