primary ciliary dyskinesia 2
MONDO:0011718Mondo
Findings
No curated finding names primary ciliary dyskinesia 2 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 DNAAF3 gene.
Definition from the Mondo Disease Ontology (MONDO:0011718), read 2026-09-29. CC BY 4.0.
Features
1 feature
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 and outer dynein armsHPOHP:0012259
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.
- DNAAF3HGNC:30492
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
5 names
Resolves to: primary ciliary dyskinesia 2
- Also called
- CILD2ciliary dyskinesia, primary, type 2DNAAF3 primary ciliary dyskinesiaprimary ciliary dyskinesia caused by mutation in DNAAF3primary ciliary dyskinesia type 2