ciliary dyskinesia, primary, 53
MONDO:0957991Mondo
Findings
No curated finding names ciliary dyskinesia, primary, 53 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
- Infantile onset · Neonatal onset · Antenatal 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.
- Abdominal situs inversusHPOHP:0003363
- 2 of 3 reported patients
- Pulmonary arterial hypertensionHPOHP:0002092
- 2 of 3 reported patients
- Recurrent pneumoniaHPOHP:0006532
- 2 of 3 reported patients
- Respiratory insufficiencyHPOHP:0002093
- 2 of 3 reported patients
- CardiomegalyHPOHP:0001640
- 1 of 3 reported patients
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 1 of 3 reported patients
- Chronic sinusitisHPOHP:0011109
- 1 of 3 reported patients
- Common atriumHPOHP:0011565
- 1 of 3 reported patients
- Dilated fourth ventricleHPOHP:0002198
- 1 of 3 reported patients
- Ductus venosus agenesisHPOHP:0034196
- 1 of 3 reported patients
- Hypoplastic spleenHPOHP:0006270
- 1 of 3 reported patients
- Patent foramen ovaleHPOHP:0001655
- 1 of 3 reported patients
Show the remaining 5
- Perimembranous ventricular septal defectHPOHP:0011682
- 1 of 3 reported patients
- Persistent left superior vena cavaHPOHP:0005301
- 1 of 3 reported patients
- PolyspleniaHPOHP:0001748
- 1 of 3 reported patients
- Right aortic archHPOHP:0012020
- 1 of 3 reported patients
- Situs inversus totalisHPOHP:0001696
- 1 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.
- CLXNHGNC:25678
- Strong · ClinGen · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of