ciliary dyskinesia, primary, 42
MONDO:0032872Mondo
Findings
No curated finding names ciliary dyskinesia, primary, 42 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
- Neonatal onset
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
- 9 of 9 reported patients
- Decreased nasal nitric oxideHPOHP:0033036
- 7 of 7 reported patients
- PneumoniaHPOHP:0002090
- 9 of 9 reported patients
- Recurrent sinusitisHPOHP:0011108
- 11 of 13 reported patients
- Respiratory insufficiencyHPOHP:0002093
- 2 of 9 reported patients
- Chronic pulmonary obstructionHPOHP:0006510
- Chronic rhinitisHPOHP:0002257
- Nasal polyposisHPOHP:0100582
- Reduced forced vital capacityHPOHP:0032341
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.
- MCIDASHGNC:40050
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
Where it sits
- A kind of