primary ciliary dyskinesia 11
Findings
No curated finding names primary ciliary dyskinesia 11 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the RSPH4A gene.
Definition from the Mondo Disease Ontology (MONDO:0012978), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
10 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.
- Abnormal central microtubular pair morphology of respiratory motile ciliaHPOHP:0012260
- 10 of 10 reported patients
- Immotile ciliaHPOHP:0012263
- 1 of 1 reported patient
- Reduced sperm motilityHPOHP:0012207
- 1 of 1 reported patient · Male
- Chronic rhinitisHPOHP:0002257
- 10 of 12 reported patients
- Recurrent sinusitisHPOHP:0011108
- 10 of 12 reported patients
- Decreased nasal nitric oxideHPOHP:0033036
- 4 of 5 reported patients
- Bronchiectasis
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.
- RSPH4AHGNC:21558
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: primary ciliary dyskinesia 11
- Also called
- CILD11ciliary dyskinesia, primary, type 11primary ciliary dyskinesia caused by mutation in RSPH4Aprimary ciliary dyskinesia type 11RSPH4A primary ciliary dyskinesia