ciliary dyskinesia, primary, 41
MONDO:0032757Mondo
Findings
No curated finding names ciliary dyskinesia, primary, 41 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
5 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.
- BronchiectasisHPOHP:0002110
- Immotile spermHPOHP:0012208
- Male
- Impaired nasal mucociliary clearanceHPOHP:0031603
- Recurrent otitis mediaHPOHP:0000403
- 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.
- GAS2L2HGNC:24846
- Strong · G2P · Autosomal recessive · 2025
- Strong · LiferaOmics · Autosomal recessive · 2026
- Moderate · ClinGen · Autosomal recessive · 2023
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2019
Where it sits
- A kind of