ciliary dyskinesia, primary, 45
MONDO:0032924Mondo
Findings
No curated finding names ciliary dyskinesia, primary, 45 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
6 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.
- Male infertilityHPOHP:0003251
- 2 of 2 reported patients · Male
- BronchiectasisHPOHP:0002110
- 2 of 4 reported patients
- Absent inner and outer dynein armsHPOHP:0012259
- Chronic rhinitisHPOHP:0002257
- Immotile ciliaHPOHP:0012263
- Recurrent respiratory infectionsHPOHP:0002205
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.
- TTC12HGNC:23700
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
Where it sits
- A kind of