ciliary dyskinesia, primary, 49, without situs inversus
MONDO:0859353Mondo
Findings
No curated finding names ciliary dyskinesia, primary, 49, without situs inversus 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
- Childhood onset
HPO, annotations 2026-09-02
Features
11 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
- 12 of 12 reported patients
- Chronic coughHPOHP:0034315
- 2 of 2 reported patients
- Ciliary dyskinesiaHPOHP:0012265
- 2 of 2 reported patients
- Coiled sperm flagellaHPOHP:0032560
- 2 of 2 reported patients
- Male infertilityHPOHP:0003251
- 2 of 2 reported patients
- Recurrent respiratory infectionsHPOHP:0002205
- 3 of 3 reported patients
- Recurrent sinusitisHPOHP:0011108
- 2 of 2 reported patients
- Short sperm flagellaHPOHP:0032559
- 2 of 2 reported patients
- Decreased nasal nitric oxideHPOHP:0033036
- 0 of 3 reported patients
- Situs inversus totalisHPOHP:0001696
- 0 of 3 reported patients
- Nasal polyposisHPOHP:0100582
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.
- CFAP74HGNC:29368
- Moderate · ClinGen · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2023
Where it sits
- A kind of