primary ciliary dyskinesia 22
Findings
No curated finding names primary ciliary dyskinesia 22 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 ZMYND10 gene.
Definition from the Mondo Disease Ontology (MONDO:0014192), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
17 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.
- Decreased nasal nitric oxideHPOHP:0033036
- 12 of 12 reported patients
- Immotile ciliaHPOHP:0012263
- 7 of 7 reported patients
- Absent inner and outer dynein armsHPOHP:0012259
- 20 of 21 reported patients
- Neonatal respiratory distressHPOHP:0002643
- 34 of 41 reported patients
- RhinitisHPOHP:0012384
- 4 of 5 reported patients
- Recurrent otitis mediaHPOHP:0000403
- 28 of 36 reported patients
- BronchiectasisHPO
Show the remaining 5
- Chronic bronchitisHPOHP:0004469
- Ciliary dyskinesiaHPOHP:0012265
- InfertilityHPOHP:0000789
- Reduced sperm motilityHPOHP:0012207
- 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.
- ZMYND10HGNC:19412
- Definitive · ClinGen · Autosomal recessive · 2023
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: primary ciliary dyskinesia 22
- Also called
- CILD22ciliary dyskinesia, primary, type 22primary ciliary dyskinesia caused by mutation in ZMYND10primary ciliary dyskinesia type 22ZMYND10 primary ciliary dyskinesia