Phenotypes associated with the disease ciliary dyskinesia, primary, 38 (OMIM:618063):
- 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: 2/3. (PMID:29727692)
- Dextrocardia (HP:0001651): The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left. Evidence: PCS. Frequency: 2/3. (PMID:29727692)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: IEA. (OMIM:618063)
- 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:29727692)
- Productive cough (HP:0031245): A cough that produces phlegm or mucus. Evidence: PCS. Frequency: 3/3. (PMID:29727692)
- Chronic sinusitis (HP:0011109): A chronic form of sinusitis. Evidence: IEA. (OMIM:618063)
- Absent inner and outer dynein arms (HP:0012259): Complete absence of the dynein arms of respiratory motile cilia, that is, absence of the inner and the outer dynein arms, which normally are situated inside and outside of the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. Evidence: PCS. Frequency: 3/3. (PMID:29727692)
- Rhinitis (HP:0012384): Inflammation of the nasal mucosa with nasal congestion. Evidence: IEA. (OMIM:618063)
- Immotile cilia (HP:0012263). Evidence: PCS. Frequency: 3/3. (PMID:29727692)
- Infertility (HP:0000789). Evidence: IEA. (OMIM:618063)
- 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:29727692)
- Conductive hearing impairment (HP:0000405): An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. Evidence: IEA. Frequency: Very rare (HP:0040284). (OMIM:618063)
- Chronic otitis media (HP:0000389): Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear. Evidence: IEA. (OMIM:618063)
- Neonatal respiratory distress (HP:0002643): Respiratory difficulty as newborn. Evidence: PCS. Frequency: 3/3. (PMID:29727692)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 3/3. (PMID:29727692)