Phenotypes associated with the disease primary ciliary dyskinesia 26 (OMIM:615500):
- Situs inversus totalis (HP:0001696): A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs. Evidence: PCS. Frequency: 3/4. Onset: Congenital onset (HP:0003577). (PMID:24094744)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: PCS. Frequency: 2/4. (PMID:24094744)
- 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: 4/4. (PMID:24094744)
- Reduced sperm motility (HP:0012207): An abnormal reduction in the mobility of ejaculated sperm. Evidence: TAS. (OMIM:615500)
- Recurrent sinusitis (HP:0011108): A recurrent form of sinusitis. Evidence: PCS. Frequency: 4/4. (PMID:24094744)
- Respiratory insufficiency due to defective ciliary clearance (HP:0200073). Evidence: TAS. (OMIM:615500)
- Ciliary dyskinesia (HP:0012265): A deviation from the normally well coordinated pattern of intracellular and intercellular synchrony of motile cilia. Dyskinetic cilia usually beat out of synchrony relative to neighboring cilia. Evidence: PCS. (PMID:24094744)
- Absent outer dynein arms (HP:0012256): Absence of the outer dynein arms of respiratory motile cilia, which normally are situated outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. Evidence: PCS. (PMID:24094744)
- Rhinitis (HP:0012384): Inflammation of the nasal mucosa with nasal congestion. Evidence: TAS. (OMIM:615500)
- Immotile cilia (HP:0012263). Evidence: IEA. Frequency: 1/1. (PMID:24094744)
- Infertility (HP:0000789). Evidence: TAS. (OMIM:615500)
- 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:24094744)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 3/4. (PMID:24094744)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. (PMID:24094744)
- Neonatal respiratory distress (HP:0002643): Respiratory difficulty as newborn. Evidence: PCS. Frequency: 4/4. Onset: Neonatal onset (HP:0003623). (PMID:24094744)
- Chronic bronchitis (HP:0004469): Chronic inflammation of the bronchi. Evidence: PCS. (PMID:24094744)