Phenotypes associated with the disease ciliary dyskinesia, primary, 44 (OMIM:618781):
- Heterotaxy (HP:0030853): An abnormality in which the internal thoraco-abdominal organs demonstrate abnormal arrangement across the left-right axis of the body. Evidence: PCS. Frequency: 0/9. (PMID:31959991)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: PCS. Frequency: 9/9. (PMID:31959991)
- Reduced forced vital capacity (HP:0032341): An abnormal reduction in the amount of air a person can expel following maximal inspiration. Evidence: PCS. Frequency: 5/7. (PMID:31959991)
- Reduced forced expiratory volume in one second (HP:0032342): An abnormal reduction in the amount of air a person can forcefully expel in one second. Evidence: PCS. Frequency: 6/7. (PMID:31959991)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 7/9. (PMID:31959991)
- 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: 0/4. (PMID:31959991)
- 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:31959991)
- Recurrent sinusitis (HP:0011108): A recurrent form of sinusitis. Evidence: PCS. Frequency: 8/9. (PMID:31959991)
- Abnormal sweat electrolytes (HP:0040128). Evidence: PCS. Frequency: 0/5. (PMID:31959991)
- Otitis media (HP:0000388): Inflammation or infection of the middle ear. Evidence: PCS. Frequency: 2/9. Onset: Childhood onset (HP:0011463). (PMID:31959991)
- Neonatal respiratory distress (HP:0002643): Respiratory difficulty as newborn. Evidence: PCS. Frequency: 2/9. Onset: Neonatal onset (HP:0003623). (PMID:31959991)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 2/9. (PMID:31959991)