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