primary ciliary dyskinesia 24
Findings
No curated finding names primary ciliary dyskinesia 24 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 RSPH1 gene.
Definition from the Mondo Disease Ontology (MONDO:0014202), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
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.
- InfertilityHPOHP:0000789
- 4 of 4 reported patients
- 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
- BronchiectasisHPOHP:0002110
- 9 of 12 reported patients
- Recurrent otitis mediaHPOHP:0000403
- 8 of 12 reported patients
- Neonatal respiratory distressHPOHP:0002643
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.
- RSPH1HGNC:12371
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
5 names
Resolves to: primary ciliary dyskinesia 24
- Also called
- CILD24ciliary dyskinesia, primary, type 24primary ciliary dyskinesia caused by mutation in RSPH1primary ciliary dyskinesia type 24RSPH1 primary ciliary dyskinesia