ciliary dyskinesia, primary, 43
MONDO:0032874Mondo
Findings
No curated finding names ciliary dyskinesia, primary, 43 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
9 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
- 6 of 6 reported patients
- Chronic rhinitisHPOHP:0002257
- 6 of 6 reported patients
- Chronic sinusitisHPOHP:0011109
- 6 of 6 reported patients
- Noncommunicating hydrocephalusHPOHP:0010953
- 6 of 6 reported patients · Neonatal onset
- Productive coughHPOHP:0031245
- 6 of 6 reported patients
- Recurrent lower respiratory tract infectionsHPOHP:0002783
- 6 of 6 reported patients
- Recurrent upper respiratory tract infectionsHPOHP:0002788
- 6 of 6 reported patients
- Neonatal respiratory distressHPOHP:0002643
- 4 of 6 reported patients
- Abdominal situs inversusHPOHP:0003363
- 3 of 6 reported patients
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.
- FOXJ1HGNC:3816
- Definitive · ClinGen · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2019
Where it sits
- A kind of