primary ciliary dyskinesia 9
Findings
No curated finding names primary ciliary dyskinesia 9 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 DNAI2 gene.
Definition from the Mondo Disease Ontology (MONDO:0012906), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal 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 outer dynein armsHPOHP:0012256
- 5 of 5 reported patients
- Chronic otitis mediaHPOHP:0000389
- 6 of 6 reported patients
- Chronic sinusitisHPOHP:0011109
- 6 of 6 reported patients
- Decreased nasal nitric oxideHPOHP:0033036
- 6 of 6 reported patients
- Recurrent otitis mediaHPOHP:0000403
- 6 of 6 reported patients
- BronchiectasisHPOHP:0002110
- 11 of 12 reported patients
- Neonatal respiratory distressHPO
Show the remaining 2
- PneumoniaHPOHP:0002090
- Neonatal onset
- Recurrent sinusitisHPOHP:0011108
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.
- HGNC:18744HGNC:18744
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: primary ciliary dyskinesia 9
- Also called
- CILD9ciliary dyskinesia, primary, type 9DNAI2 primary ciliary dyskinesiaprimary ciliary dyskinesia caused by mutation in DNAI2primary ciliary dyskinesia type 9