Conditions / Syndrome

primary ciliary dyskinesia 14

info · Syndrome · ICD-10: Q34.8

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation i

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26.

Signs and symptoms

  • Immotile sperm
  • Rhinorrhea
  • Cough
  • Wheezing
  • Chronic sinusitis
  • Recurrent respiratory infections
  • Chronic bronchitis
  • Bronchiectasis
  • Neonatal respiratory distress
  • Reduced sperm motility

Also known as: CILD14; primary ciliary dyskinesia 14 with or without situs inversus