ciliary dyskinesia, primary, 36, X-linked
Findings
No curated finding names ciliary dyskinesia, primary, 36, X-linked 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 PIH1D3 gene.
Definition from the Mondo Disease Ontology (MONDO:0010517), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Neonatal onset
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.
- BronchiectasisHPOHP:0002110
- 2 of 2 reported patients
- Chronic otitis mediaHPOHP:0000389
- 4 of 4 reported patients
- CoughHPOHP:0012735
- 4 of 4 reported patients
- Decreased nasal nitric oxideHPOHP:0033036
- 4 of 4 reported patients
- Male infertilityHPOHP:0003251
- 1 of 1 reported patient
- Nasal congestionHPOHP:0001742
- 4 of 4 reported patients
- Recurrent respiratory infectionsHPOHP:0002205
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.
- DNAAF6HGNC:28570
- Definitive · ClinGen · X-linked · 2024
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · G2P · X-linked · 2025
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: ciliary dyskinesia, primary, 36, X-linked
- Also called
- CILD36ciliary dyskinesia, primary, 36, X-linked, X-linked recessiveciliary dyskinesia, primary, 36, X-linked; CILD36PIH1D3 primary ciliary dyskinesiaprimary ciliary dyskinesia caused by mutation in PIH1D3