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GENATLAS PHENOTYPE
last update : 04-10-2013
Symbol ICS24
Location 10p12.1
Name immotile cilia syndrome 24
Other name(s) primary ciliary dyskinesia-23
Corresponding gene ARMC4
Other symbol(s) CILD23
Main clinical features
  • defective ciliary motility associated with respiratory distress and recurrent upper and lower airway infections, and often bronchiectasis
  • about 50% of patients have situs inversus or laterality defects
  • ultrastructural analysis of respiratory cilia shows defects in the outer dynein arm
  • Genetic determination autosomal recessive
    Function/system disorder cardiovascular
    respiratory
    eye
    Type disease
    Remark(s)