primary ciliary dyskinesia 20
Findings
No curated finding names primary ciliary dyskinesia 20 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 CCDC114 gene.
Definition from the Mondo Disease Ontology (MONDO:0014030), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
22 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.
- Absent outer dynein armsHPOHP:0012256
- 2 of 2 reported patients
- BronchiectasisHPOHP:0002110
- 6 of 6 reported patients
- Recurrent otitis mediaHPOHP:0000403
- 15 of 16 reported patients
- Productive coughHPOHP:0031245
- 14 of 15 reported patients
- Recurrent sinusitisHPOHP:0011108
- 9 of 16 reported patients
- HemoptysisHPOHP:0002105
- 5 of 14 reported patients
- Recurrent pneumoniaHPOHP:0006532
Show the remaining 10
- Double outlet right ventricleHPOHP:0001719
- 1 of 16 reported patients
- Persistent left superior vena cavaHPOHP:0005301
- 1 of 16 reported patients
- Pulmonary arterial hypertensionHPOHP:0002092
- 1 of 16 reported patients
- Pulmonary artery stenosisHPOHP:0004415
- 1 of 16 reported patients
- Decreased fertilityHPOHP:0000144
- 0 of 7 reported patients
- AtelectasisHPOHP:0100750
- Ciliary dyskinesia
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.
- ODAD1HGNC:26560
- Definitive · ClinGen · Autosomal recessive · 2022
- 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 20
- Also called
- CCDC114 primary ciliary dyskinesiaCILD20ciliary dyskinesia, primary, type 20primary ciliary dyskinesia caused by mutation in CCDC114primary ciliary dyskinesia type 20