ciliary dyskinesia, primary, 39
MONDO:0032637Mondo
Findings
No curated finding names ciliary dyskinesia, primary, 39 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
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.
- Chronic lung diseaseHPOHP:0006528
- 2 of 2 reported patients
- CoughHPOHP:0012735
- 2 of 2 reported patients
- Decreased nasal nitric oxideHPOHP:0033036
- 1 of 1 reported patient
- Double outlet right ventricleHPOHP:0001719
- 2 of 2 reported patients
- Recurrent lower respiratory tract infectionsHPOHP:0002783
- 2 of 2 reported patients
- Recurrent otitis mediaHPOHP:0000403
- 2 of 2 reported patients
- BronchiectasisHPOHP:0002110
- 1 of 2 reported patients
- RhinorrheaHPOHP:0031417
- 1 of 2 reported patients
- DextrocardiaHPOHP:0001651
- 1 of 4 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.
- LRRC56HGNC:25430
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2024
- Moderate · ClinGen · Autosomal recessive · 2024
- Limited · Ambry Genetics · Autosomal recessive · 2022
Where it sits
- A kind of