primary ciliary dyskinesia 18
Findings
No curated finding names primary ciliary dyskinesia 18 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 DNAAF5 gene.
Definition from the Mondo Disease Ontology (MONDO:0013940), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · 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 inner dynein armsHPOHP:0012257
- 9 of 9 reported patients
- Absent outer dynein armsHPOHP:0012256
- 9 of 9 reported patients
- Decreased nasal nitric oxideHPOHP:0033036
- 9 of 9 reported patients
- Immotile ciliaHPOHP:0012263
- 1 of 1 reported patient
- Neonatal respiratory distressHPOHP:0002643
- 8 of 9 reported patients
- Recurrent sinusitisHPOHP:0011108
- 8 of 9 reported patients
- RhinitisHPOHP:0012384
Show the remaining 2
- Ciliary dyskinesiaHPOHP:0012265
- Respiratory insufficiency due to defective ciliary clearanceHPOHP:0200073
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.
- DNAAF5HGNC:26013
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · G2P · Autosomal recessive · 2025
- 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 18
- Also called
- CILD18ciliary dyskinesia, primary, type 18DNAAF5 primary ciliary dyskinesiaprimary ciliary dyskinesia caused by mutation in DNAAF5primary ciliary dyskinesia type 18