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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 18-08-2011
Symbol ICS17
Location 17q25.3
Name immotile cilia syndrome 17
Corresponding gene CCDC40
Other symbol(s) CILD15
Genetic determination autosomal recessive
Related entries . recurrent respiratory infections associated with defects in ciliary inner dynein arms and axonemal disorganization . chronic upper and lower airway infections, situs solitus, or situs inversus, and heterotaxia . electron microscopy studies showed defects in several axonemal structures, including occasional absent or eccentric central pairs, displacement of outer doublets, reductions in the mean number of inner dynein arms
Function/system disorder respiratory
Type disease
Remark(s)