Conditions / Syndrome
primary ciliary dyskinesia 51
info · Syndrome
A primary ciliary dyskinesia characterized by male infertility with markedly reduced progressive motility and multiple morphologic abnormalities of the flagella, chronic rhinosinusitis and bronchitis, and recurrent upper and lower respiratory infections that h
A primary ciliary dyskinesia characterized by male infertility with markedly reduced progressive motility and multiple morphologic abnormalities of the flagella, chronic rhinosinusitis and bronchitis, and recurrent upper and lower respiratory infections that has_material_basis_in homozygous or compound heterozygous mutation in the BRWD1 gene on chromosome 21q22. Situs abnormalities have been reported.
Signs and symptoms
- Chronic rhinitis
- Bronchiectasis
- Male infertility
- Reduced sperm motility
- Productive cough
- Recurrent sinusitis
- Absent sperm flagella
- Short sperm flagella
- Irregularly shaped sperm tail
- Reduced progressive sperm motility
Also known as: CILD51