ciliary dyskinesia, primary, 52
MONDO:0957922Mondo
Findings
No curated finding names ciliary dyskinesia, primary, 52 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 · Childhood onset
HPO, annotations 2026-09-02
Features
18 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.
- Atrial septal defectHPOHP:0001631
- 1 of 1 reported patient
- Recurrent otitis mediaHPOHP:0000403
- 3 of 4 reported patients
- Abdominal situs ambiguusHPOHP:0031565
- 2 of 5 reported patients
- Situs inversus totalisHPOHP:0001696
- 2 of 5 reported patients
- Double outlet right ventricleHPOHP:0001719
- 2 of 6 reported patients
- Hypoplastic left ventricleHPOHP:0004383
- 2 of 6 reported patients
- Pulmonic stenosisHPOHP:0001642
- 2 of 6 reported patients
- Ventricular septal defectHPOHP:0001629
- 2 of 6 reported patients
- Chronic coughHPOHP:0034315
- 1 of 4 reported patients
- Recurrent lower respiratory tract infectionsHPOHP:0002783
- 1 of 4 reported patients
- Abdominal situs inversusHPOHP:0003363
- 1 of 5 reported patients
- Discordant atrioventricular connectionHPOHP:0011553
- 1 of 6 reported patients
Show the remaining 6
- Mitral atresiaHPOHP:0011560
- 1 of 6 reported patients
- Patent ductus arteriosusHPOHP:0001643
- 1 of 6 reported patients
- Patent foramen ovaleHPOHP:0001655
- 1 of 6 reported patients
- Sinus venosus atrial septal defectHPOHP:0011567
- 1 of 6 reported patients
- Total anomalous pulmonary venous returnHPOHP:0005160
- 1 of 6 reported patients
- Transposition of the great arteriesHPOHP:0001669
- 1 of 6 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.
- DAW1HGNC:26383
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2024
- Moderate · G2P · Autosomal recessive · 2023
Where it sits
- A kind of