ciliary dyskinesia, primary, 50
MONDO:0957252Mondo
Findings
No curated finding names ciliary dyskinesia, primary, 50 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
8 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 dynein armsHPOHP:0012257
- 4 of 4 reported patients
- Chronic bronchitisHPOHP:0004469
- 4 of 4 reported patients
- Chronic sinusitisHPOHP:0011109
- 4 of 4 reported patients
- Coiled sperm flagellaHPOHP:0032560
- 1 of 1 reported patient
- Male infertilityHPOHP:0003251
- 4 of 4 reported patients
- Reduced progressive sperm motilityHPOHP:0034011
- 4 of 4 reported patients
- Reduced sperm motilityHPOHP:0012207
- 3 of 3 reported patients
- Short sperm flagellaHPOHP:0032559
- 1 of 1 reported patient
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.
- DNAH7HGNC:18661
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
- A kind of