Phenotypes associated with the disease primary ciliary dyskinesia 21 (OMIM:615294):
- 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:23354437)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: PCS. Frequency: 1/4. (PMID:23354437)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/4. (PMID:23354437)
- 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: 1/1. (PMID:23354437)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 1/1. (PMID:23354437)
- 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:23354437)
- Recurrent pneumonia (HP:0006532): An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. Evidence: PCS. Frequency: 4/4. Onset: Infantile onset (HP:0003593). (PMID:23354437)
- Atelectasis (HP:0100750): Collapse of part of a lung associated with absence of inflation (air) of that part. Evidence: PCS. Frequency: 1/4. (PMID:23354437)
- Chronic sinusitis (HP:0011109): A chronic form of sinusitis. Evidence: PCS. (PMID:23354437)
- Neonatal respiratory distress (HP:0002643): Respiratory difficulty as newborn. Evidence: PCS. Frequency: 1/4. (PMID:23354437)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 3/4. (PMID:23354437)