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GENATLAS PHENOTYPE
last update : 13-10-2012
Symbol ICS19
Location 16q22.2
Name immotile cilia syndrome 19
Corresponding gene HYDIN
Other symbol(s) CILD5
Main clinical features
  • defective cilia and flagella motility; chronic destructive-airway disease is caused by abnormal respiratory-tract mucociliary clearance
  • approximately half show situs inversus or situs ambiguous
  • Genetic determination autosomal recessive
    Function/system disorder multisystem/generalized
    defense and immunity
    Type disease
    Remark(s) . mutant had normal body composition because nodal cilia function is apparently not dependent on the function of the central pair apparatus (PMID: 23022101))