ciliary dyskinesia, primary, 51
MONDO:0957396Mondo
Findings
No curated finding names ciliary dyskinesia, primary, 51 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
14 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 sperm flagellaHPOHP:0032558
- 3 of 3 reported patients
- BronchiectasisHPOHP:0002110
- 3 of 3 reported patients
- Chronic rhinitisHPOHP:0002257
- 3 of 3 reported patients
- Irregularly shaped sperm tailHPOHP:0033393
- 3 of 3 reported patients
- Male infertilityHPOHP:0003251
- 3 of 3 reported patients · Young adult onset
- Productive coughHPOHP:0031245
- 3 of 3 reported patients
- Recurrent respiratory infectionsHPOHP:0002205
- 3 of 3 reported patients
- Recurrent sinusitisHPOHP:0011108
- 3 of 3 reported patients
- Reduced progressive sperm motilityHPOHP:0034011
- 3 of 3 reported patients
- Reduced sperm motilityHPOHP:0012207
- 3 of 3 reported patients
- Short sperm flagellaHPOHP:0032559
- 3 of 3 reported patients
- OligozoospermiaHPOHP:0000798
- 2 of 3 reported patients
Show the remaining 2
- Decreased nasal nitric oxideHPOHP:0033036
- 1 of 2 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.
- BRWD1HGNC:12760
- Limited · Ambry Genetics · Autosomal recessive · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of