Phenotypes associated with the disease ciliary dyskinesia, primary, 49, without situs inversus (OMIM:620197):
- 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: 0/3. (PMID:36047773)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: PCS. Frequency: 12/12. (PMID:32555313;PMID:36047773)
- Male infertility (HP:0003251). Evidence: PCS. Frequency: 2/2. (PMID:32555313)
- 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: 0/3. (PMID:36047773)
- Nasal polyposis (HP:0100582): Polypoidal masses arising mainly from the mucous membranes of the nose and paranasal sinuses. They are freely movable and nontender overgrowths of the mucosa that frequently accompany allergic rhinitis. Evidence: PCS. (PMID:36047773)
- Chronic cough (HP:0034315): A persistent cough, defined as a cough lasting longer than eight weeks in adults or longer than four weeks in children. Evidence: PCS. Frequency: 2/2. (PMID:32555313)
- Recurrent sinusitis (HP:0011108): A recurrent form of sinusitis. Evidence: PCS. Frequency: 2/2. (PMID:32555313)
- Short sperm flagella (HP:0032559): Sperm cells with abnormally short flagella. Evidence: PCS. Frequency: 2/2. (PMID:32555313)
- 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. Frequency: 2/2. (PMID:32555313)
- Coiled sperm flagella (HP:0032560): Sperm cells whose flagella are twisted (coiled). Evidence: PCS. Frequency: 2/2. (PMID:32555313)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 3/3. (PMID:36047773)
- 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:32555313)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. Frequency: 3/3. (PMID:36047773)