Conditions / Syndrome
primary ciliary dyskinesia 49
info · Syndrome
A primary ciliary dyskinesia characterized by onset of recurrent respiratory infections, chronic cough, and bronchiectasis in early childhood due to defective ciliary clearance and male infertility due to defective flagellar morphology and function that has_ma
A primary ciliary dyskinesia characterized by onset of recurrent respiratory infections, chronic cough, and bronchiectasis in early childhood due to defective ciliary clearance and male infertility due to defective flagellar morphology and function that has_material_basis_in compound heterozygous mutation in the CFAP74 gene on chromosome 1p36. Situs abnormalities have not been reported.
Signs and symptoms
- Bronchiectasis
- Male infertility
- Chronic cough
- Recurrent sinusitis
- Short sperm flagella
- Ciliary dyskinesia
- Coiled sperm flagella
- Recurrent respiratory infections
- Nasal polyposis
- Situs inversus totalis
Also known as: CILD49