ciliary dyskinesia, primary, 38
MONDO:0054843Mondo
Findings
No curated finding names ciliary dyskinesia, primary, 38 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
7 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 inner and outer dynein armsHPOHP:0012259
- 3 of 3 reported patients
- Decreased nasal nitric oxideHPOHP:0033036
- 1 of 1 reported patient
- Immotile ciliaHPOHP:0012263
- 3 of 3 reported patients
- Neonatal respiratory distressHPOHP:0002643
- 3 of 3 reported patients
- Productive coughHPOHP:0031245
- 3 of 3 reported patients
- DextrocardiaHPOHP:0001651
- 2 of 3 reported patients
- Situs inversus totalisHPOHP:0001696
- 2 of 3 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.
- HGNC:28188HGNC:28188
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
Where it sits
- A kind of