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GENATLAS PHENOTYPE
last update : 12-11-2015
Symbol ICS34
Location 2p23.2
Name immotile cilia syndrome 34
Other name(s) Ciliary dyskinesia, primary, 21
Corresponding gene DRC1
Other symbol(s) CILD21
Main clinical features
  • characterized by infantile onset of chronic sinopulmonary infections resulting from abnormal ciliary function
  • electron microscopy of respiratory epithelial cells shows normal outer and inner dynein arms, but absence of nexin links and defects in the nexin-dynein regulatory complex (N-DRC)
  • Genetic determination autosomal recessive
    Function/system disorder respiratory
    Type disease
    Remark(s)