primary ciliary dyskinesia 26
Findings
No curated finding names primary ciliary dyskinesia 26 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP298 gene.
Definition from the Mondo Disease Ontology (MONDO:0014211), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased nasal nitric oxideHPOHP:0033036
- 4 of 4 reported patients
- Immotile ciliaHPOHP:0012263
- 1 of 1 reported patient
- Neonatal respiratory distressHPOHP:0002643
- 4 of 4 reported patients · Neonatal onset
- Recurrent sinusitisHPOHP:0011108
- 4 of 4 reported patients
- Recurrent otitis mediaHPOHP:0000403
- 3 of 4 reported patients
- Situs inversus totalisHPOHP:0001696
- 3 of 4 reported patients · Congenital onset
- Bronchiectasis
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CFAP298HGNC:1301
- Strong · G2P · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
5 names
Resolves to: primary ciliary dyskinesia 26
- Also called
- CFAP298 primary ciliary dyskinesiaCILD26ciliary dyskinesia, primary, type 26primary ciliary dyskinesia caused by mutation in CFAP298primary ciliary dyskinesia type 26