Phenotypes associated with the disease primary ciliary dyskinesia 10 (OMIM:612518):
- 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:19052621)
- 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:19052621)
- 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:19052621)
- Abnormal respiratory motile cilium morphology (HP:0005938): Abnormal arrangement of the structures of the motile cilium. Evidence: PCS. (PMID:19052621)
- 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: PCS. Frequency: 3/3. (PMID:19052621)
- Chronic sinusitis (HP:0011109): A chronic form of sinusitis. Evidence: TAS. Frequency: 3/3. (PMID:19052621)
- Recurrent sinusitis (HP:0011108): A recurrent form of sinusitis. Evidence: TAS. (PMID:19052621)