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References OMIM Gene GeneReviews HGMD HGNC
last update : 23-11-2013
Symbol ICS29
Location 8q22.2
Name immotile cilia syndrome 29
Other name(s) ciliary dyskinesia-28
Corresponding gene SPAG1
Other symbol(s) CILD28
Main clinical features
  • defective ciliary movement, recurrent upper and lower airway disease, bronchiectasis, and decreased fertility
  • about half of patients show laterality defects, including situs inversus
  • respiratory cilia from patients show defects in both the inner and outer dynein arms
  • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    Type disease