primary ciliary dyskinesia 7
Findings
No curated finding names primary ciliary dyskinesia 7 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 DNAH11 gene.
Definition from the Mondo Disease Ontology (MONDO:0012748), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Childhood onset
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.
- Abnormal ciliary motilityHPOHP:0012262
- 4 of 4 reported patients
- BronchiectasisHPOHP:0002110
- 3 of 3 reported patients
- Chronic rhinitisHPOHP:0002257
- 2 of 2 reported patients
- Ciliary dyskinesiaHPOHP:0012265
- 3 of 3 reported patients
- CoughHPOHP:0012735
- 2 of 2 reported patients
- Decreased nasal nitric oxideHPOHP:0033036
- 2 of 2 reported patients
- DextrocardiaHPOHP:0001651
Show the remaining 1
- Abnormal axonemal organization of respiratory motile ciliaHPOHP:0012258
- 0 of 1 reported patient
Genes
2 genes
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.
- DNAH11HGNC:2942
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- DNAH1HGNC:2940
- Moderate · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: primary ciliary dyskinesia 7
- Also called
- CILD7ciliary dyskinesia, primary, type 7DNAH11 primary ciliary dyskinesiaprimary ciliary dyskinesia caused by mutation in DNAH11primary ciliary dyskinesia type 7