primary ciliary dyskinesia 14
Findings
No curated finding names primary ciliary dyskinesia 14 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 CCDC39 gene.
Definition from the Mondo Disease Ontology (MONDO:0013434), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset · Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
18 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.
- Chronic bronchitisHPOHP:0004469
- 9 of 9 reported patients
- Chronic sinusitisHPOHP:0011109
- 11 of 11 reported patients
- CoughHPOHP:0012735
- 9 of 9 reported patients
- Immotile spermHPOHP:0012208
- 3 of 3 reported patients
- Recurrent respiratory infectionsHPOHP:0002205
- 21 of 21 reported patients
- RhinorrheaHPOHP:0031417
- 11 of 11 reported patients
- WheezingHPOHP:0030828
Show the remaining 6
- HeterotaxyHPOHP:0030853
- 3 of 19 reported patients
- PolyspleniaHPOHP:0001748
- 2 of 19 reported patients
- Abnormal axonemal organization of respiratory motile ciliaHPOHP:0012258
- Absent inner dynein armsHPOHP:0012257
- Ciliary dyskinesiaHPOHP:0012265
- Male infertilityHPOHP:0003251
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.
- CCDC39HGNC:25244
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
- A kind of
Other names
5 names
Resolves to: primary ciliary dyskinesia 14
- Also called
- CCDC39 primary ciliary dyskinesiaCILD14ciliary dyskinesia, primary, type 14primary ciliary dyskinesia caused by mutation in CCDC39primary ciliary dyskinesia type 14