primary ciliary dyskinesia 13
Findings
No curated finding names primary ciliary dyskinesia 13 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 DNAAF1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013174), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
10 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 inner dynein armsHPOHP:0012257
- 8 of 8 reported patients
- Absent outer dynein armsHPOHP:0012256
- 8 of 8 reported patients
- BronchiectasisHPOHP:0002110
- 5 of 5 reported patients
- Immotile ciliaHPOHP:0012263
- 8 of 8 reported patients
- InfertilityHPOHP:0000789
- 2 of 2 reported patients
- Recurrent bronchitisHPOHP:0002837
- 5 of 5 reported patients
- Recurrent sinusitisHPOHP:0011108
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.
- DNAAF1HGNC:30539
- Definitive · ClinGen · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: primary ciliary dyskinesia 13
- Also called
- CILD13ciliary dyskinesia, primary, type 13DNAAF1 primary ciliary dyskinesiaprimary ciliary dyskinesia caused by mutation in DNAAF1primary ciliary dyskinesia type 13