Phenotypes associated with the disease primary ciliary dyskinesia 19 (OMIM:614935):
- 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: 2/6. (PMID:23122589)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: PCS. Frequency: 4/6. (PMID:23122589)
- Male infertility (HP:0003251). Evidence: PCS. Frequency: 5/5. (PMID:23122589)
- 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. Frequency: 2/6. (PMID:23122589)
- Recurrent sinusitis (HP:0011108): A recurrent form of sinusitis. Evidence: PCS. Frequency: 5/6. (PMID:23122589)
- 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. (PMID:23122589)
- Respiratory insufficiency due to defective ciliary clearance (HP:0200073). Evidence: PCS. (PMID:23122589)
- 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:23122589)
- Immotile cilia (HP:0012263). Evidence: PCS. Frequency: 12/12. (PMID:23122589;PMID:23891469)
- Rhinitis (HP:0012384): Inflammation of the nasal mucosa with nasal congestion. Evidence: PCS. Frequency: 5/6. (PMID:23122589)
- 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:23122589)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 3/6. (PMID:23122589)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. (PMID:23891469)
- Chronic bronchitis (HP:0004469): Chronic inflammation of the bronchi. Evidence: PCS. Frequency: 5/6. (PMID:23122589)