Phenotypes associated with the disease primary ciliary dyskinesia 14 (OMIM:613807):
- 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: 3/19. (PMID:21131972)
- Congenital onset (HP:0003577): A phenotypic abnormality that is present at birth. Evidence: PCS. Frequency: 2/11. (PMID:23255504)
- 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: 10/19. (PMID:21131972)
- Male infertility (HP:0003251). Evidence: PCS. (PMID:21131972)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 2/11. (PMID:23255504)
- Reduced sperm motility (HP:0012207): An abnormal reduction in the mobility of ejaculated sperm. Evidence: PCS. Frequency: 4/7. (PMID:21131972)
- Immotile sperm (HP:0012208): A lack of mobility of ejaculated sperm. Evidence: PCS. Frequency: 3/3. (PMID:23255504)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 2/11. (PMID:23255504)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 1/11. (PMID:23255504)
- Polysplenia (HP:0001748): Polysplenia is a congenital disease manifested by multiple small accessory spleens. Evidence: PCS. Frequency: 2/19. (PMID:21131972)
- Recurrent pneumonia (HP:0006532): An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. Evidence: PCS. Frequency: 5/11. (PMID:23255504)
- Rhinorrhea (HP:0031417): Increased discharge of mucus from the nose. Evidence: PCS. Frequency: 11/11. (PMID:23255504)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 4/11. (PMID:23255504)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: PCS. Frequency: 9/10. (PMID:23255504)
- Cough (HP:0012735): A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. Evidence: PCS. Frequency: 9/9. (PMID:23255504)
- Wheezing (HP:0030828): A high-pitched whistling sound associated with labored breathing. Evidence: PCS. Frequency: 9/9. (PMID:23255504)
- Absent inner dynein arms (HP:0012257): Absence of the inner dynein arms of respiratory motile cilia, which normally are situated within the peripheral microtubules of motile cilia. This feature is usually appreciated by electron microscopy. Evidence: PCS. (PMID:21131972)
- Chronic sinusitis (HP:0011109): A chronic form of sinusitis. Evidence: PCS. Frequency: 11/11. (PMID:23255504)
- Abnormal axonemal organization of respiratory motile cilia (HP:0012258): Abnormal arrangement of the structures of the axoneme, which is the cytoskeletal structure that forms the inner core of the motile cilium and displays a canonical 9+2 microtubular pattern of motile cilia studded with dynein arms. Evidence: PCS. (PMID:21131972)
- 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:21131972)
- Abnormal ciliary motility (HP:0012262): Any anomaly of the normal motility of motile cilia. Evaluation of ciliary beat frequency and ciliary beat pattern requires high-speed videomicroscopy of freshly obtained ciliary biopsies that are maintained in culture media under controlled conditions. Evidence: TAS. (OMIM:613807)
- 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:21131972)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. Frequency: 21/21. (PMID:23255504;PMID:21131972)
- Otitis media (HP:0000388): Inflammation or infection of the middle ear. Evidence: TAS. (OMIM:613807)
- Neonatal respiratory distress (HP:0002643): Respiratory difficulty as newborn. Evidence: PCS. Frequency: 9/11. (PMID:23255504)
- Chronic bronchitis (HP:0004469): Chronic inflammation of the bronchi. Evidence: PCS. Frequency: 9/9. (PMID:23255504)