primary ciliary dyskinesia 29
Findings
No curated finding names primary ciliary dyskinesia 29 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 CCNO gene.
Definition from the Mondo Disease Ontology (MONDO:0014378), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Progressive · Childhood onset
HPO, annotations 2026-09-02
Features
9 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.
- BronchiectasisHPOHP:0002110
- 15 of 15 reported patients
- Decreased nasal nitric oxideHPOHP:0033036
- 6 of 6 reported patients
- InfertilityHPOHP:0000789
- 1 of 1 reported patient
- Recurrent respiratory infectionsHPOHP:0002205
- 15 of 15 reported patients
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- 0 of 8 reported patients
- Elevated sweat chlorideHPOHP:0012236
- 0 of 9 reported patients
- Situs inversus totalisHPO
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.
- CCNOHGNC:18576
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
5 names
Resolves to: primary ciliary dyskinesia 29
- Also called
- CCNO primary ciliary dyskinesiaCILD29ciliary dyskinesia, primary, type 29primary ciliary dyskinesia caused by mutation in CCNOprimary ciliary dyskinesia type 29