Phenotypes associated with the disease primary ciliary dyskinesia 34 (OMIM:617091):
- Absent central microtubular pair morphology of respiratory motile cilia (HP:0012264): Absence of the two central microtubules of motile cilia with a 9+2 microtubuluar configuration. Evidence: PCS. (PMID:27486783)
- Chronic rhinitis (HP:0002257): Chronic inflammation of the nasal mucosa. Evidence: PCS. Frequency: 3/3. (PMID:27486783)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: PCS. Frequency: 3/3. (PMID:27486783)
- Male infertility (HP:0003251). Evidence: PCS. Frequency: 1/1. (PMID:27486783)
- Decreased nasal nitric oxide (HP:0033036): Reduced level of nasal nitric oxide (nNO). Current American Thoracic Society/European Respiratory Society (ATS/ERS) guidelines for nNO measurements recommend air aspiration via a nasal probe while the subject exhales through the mouth against resistance in order to maintain velum closure. Evidence: PCS. Frequency: 3/3. (PMID:27486783)
- Reduced respiratory ciliary beating frequency (HP:0033158): An abnormal reduction in the number of beats per unit time of the respiratory cilia. Evidence: PCS. Frequency: 2/2. (PMID:27486783)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:27486783)
- Recurrent bronchitis (HP:0002837): An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis. Evidence: PCS. Frequency: 2/3. (PMID:27486783)
- Immotile sperm (HP:0012208): A lack of mobility of ejaculated sperm. Evidence: PCS. Frequency: 1/1. (PMID:27486783)
- Recurrent sinusitis (HP:0011108): A recurrent form of sinusitis. Evidence: PCS. Frequency: 3/3. (PMID:27486783)
- Neonatal respiratory distress (HP:0002643): Respiratory difficulty as newborn. Evidence: PCS. Frequency: 1/3. Onset: Neonatal onset (HP:0003623). (PMID:27486783)