Phenotypes associated with the disease primary ciliary dyskinesia 6 (OMIM:610852):
- 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: IEA. (OMIM:610852)
- Absent/shortened outer dynein arms (HP:0200109). Evidence: TAS. (OMIM:610852)
- 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:610852)
- 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: IEA. (OMIM:610852)
- Abnormal respiratory motile cilium morphology (HP:0005938): Abnormal arrangement of the structures of the motile cilium. Evidence: TAS. (PMID:17360648)
- Sinusitis (HP:0000246): Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction. Evidence: IEA. (OMIM:610852)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: IEA. (OMIM:610852)
- Recurrent sinusitis (HP:0011108): A recurrent form of sinusitis. Evidence: TAS. (OMIM:610852)