primary ciliary dyskinesia 25
Findings
No curated finding names primary ciliary dyskinesia 25 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 DNAAF4 gene.
Definition from the Mondo Disease Ontology (MONDO:0014203), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
19 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.
- InfertilityHPOHP:0000789
- 5 of 5 reported patients
- Immotile ciliaHPOHP:0012263
- 6 of 7 reported patients
- Recurrent otitis mediaHPOHP:0000403
- 9 of 12 reported patients
- Neonatal respiratory distressHPOHP:0002643
- 7 of 12 reported patients
- Recurrent sinusitisHPOHP:0011108
- 7 of 12 reported patients
- BronchiectasisHPOHP:0002110
- 5 of 12 reported patients
- Chronic pulmonary obstructionHPOHP:0006510
Show the remaining 7
- DextrocardiaHPOHP:0001651
- 1 of 12 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 1 of 12 reported patients
- MicrocephalyHPOHP:0000252
- 1 of 12 reported patients
- PolyspleniaHPOHP:0001748
- 1 of 12 reported patients
- Recurrent pneumoniaHPOHP:0006532
- 1 of 12 reported patients
- Ciliary dyskinesiaHPOHP:0012265
- Recurrent respiratory infectionsHPO
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.
- DNAAF4HGNC:21493
- Definitive · Ambry Genetics · Autosomal recessive · 2024
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: primary ciliary dyskinesia 25
- Also called
- CILD25ciliary dyskinesia, primary, type 25DNAAF4 primary ciliary dyskinesiaprimary ciliary dyskinesia caused by mutation in DNAAF4primary ciliary dyskinesia type 25