primary ciliary dyskinesia 19
Findings
No curated finding names primary ciliary dyskinesia 19 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 LRRC6 gene.
Definition from the Mondo Disease Ontology (MONDO:0013979), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
13 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.
- Immotile ciliaHPOHP:0012263
- 12 of 12 reported patients
- Male infertilityHPOHP:0003251
- 5 of 5 reported patients
- Chronic bronchitisHPOHP:0004469
- 5 of 6 reported patients
- Recurrent sinusitisHPOHP:0011108
- 5 of 6 reported patients
- RhinitisHPOHP:0012384
- 5 of 6 reported patients
- BronchiectasisHPOHP:0002110
- 4 of 6 reported patients
- Recurrent otitis mediaHPOHP:0000403
Show the remaining 1
- 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.
- DNAAF11HGNC:16725
- Definitive · Ambry Genetics · Autosomal recessive · 2025
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: primary ciliary dyskinesia 19
- Also called
- CILD19ciliary dyskinesia, primary, type 19LRRC6 primary ciliary dyskinesiaprimary ciliary dyskinesia caused by mutation in LRRC6primary ciliary dyskinesia type 19