Conditions / Syndrome
primary ciliary dyskinesia 54
info · Syndrome
A primary ciliary dyskinesia characterized by a mild respiratory phenotype including rhinitis, sinusitis, asthma, and bronchiectasis that has_material_basis_in compound heterozygous mutation in the CFAP54 gene on chromosome 12q23. Some abnormalities of spermat
A primary ciliary dyskinesia characterized by a mild respiratory phenotype including rhinitis, sinusitis, asthma, and bronchiectasis that has_material_basis_in compound heterozygous mutation in the CFAP54 gene on chromosome 12q23. Some abnormalities of spermatozoa have been reported, but their effect on male fertility is unclear.
Signs and symptoms
- Bronchiectasis
- Asthma
- Recurrent bronchitis
- Productive cough
- Pneumonia
- Atelectasis
- Abnormal sperm axoneme morphology
- Absent sperm flagella
- Short sperm flagella
Also known as: CILD54