ciliary dyskinesia, primary, 40
MONDO:0032664Mondo
Findings
No curated finding names ciliary dyskinesia, primary, 40 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
17 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 outer dynein armsHPOHP:0012256
- 1 of 1 reported patient
- AzoospermiaHPOHP:0000027
- 1 of 1 reported patient
- Chronic rhinitisHPOHP:0002257
- 4 of 4 reported patients
- Chronic sinusitisHPOHP:0011109
- 4 of 4 reported patients
- CoughHPOHP:0012735
- 4 of 4 reported patients
- InfertilityHPOHP:0000789
- 1 of 1 reported patient
- Situs inversus totalisHPOHP:0001696
- 7 of 9 reported patients
- Decreased nasal nitric oxideHPOHP:0033036
- 1 of 4 reported patients
- Levotransposition of the great arteriesHPOHP:0011540
- 1 of 4 reported patients
- Reduced forced expiratory volume in one secondHPOHP:0032342
- 1 of 4 reported patients
- Reduced respiratory ciliary beating frequencyHPOHP:0033158
- 1 of 4 reported patients
- Unbalanced atrioventricular canal defectHPOHP:0011579
- 1 of 4 reported patients
Show the remaining 5
- Atrioventricular canal defectHPOHP:0006695
- 1 of 5 reported patients
- Interrupted inferior vena cava with azygous continuationHPOHP:0011671
- 1 of 5 reported patients
- Left IsomerismHPOHP:0031854
- 1 of 5 reported patients
- Patent ductus arteriosusHPOHP:0001643
- 1 of 5 reported patients
- Right aortic archHPOHP:0012020
- 1 of 5 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.
- DNAH9HGNC:2953
- Definitive · ClinGen · Autosomal recessive · 2026
- Definitive · G2P · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of