ciliary dyskinesia, primary, 46
MONDO:0030332Mondo
Findings
No curated finding names ciliary dyskinesia, primary, 46 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
9 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.
- BronchiectasisHPOHP:0002110
- 1 of 1 reported patient
- Ciliary dyskinesiaHPOHP:0012265
- 1 of 1 reported patient
- Hearing impairmentHPOHP:0000365
- 1 of 1 reported patient
- Recurrent otitis mediaHPOHP:0000403
- 1 of 1 reported patient
- Recurrent pneumoniaHPOHP:0006532
- 1 of 1 reported patient
- Recurrent sinusitisHPOHP:0011108
- 1 of 1 reported patient
- Reduced forced expiratory volume in one secondHPOHP:0032342
- 1 of 1 reported patient
- Reduced forced vital capacityHPOHP:0032341
- 1 of 1 reported patient
- Reduced sperm motilityHPOHP:0012207
- 1 of 1 reported patient
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.
- STK36HGNC:17209
- Moderate · ClinGen · Autosomal recessive · 2024
- Limited · Ambry Genetics · Autosomal recessive · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: ciliary dyskinesia, primary, 46
- Also called
- CILD46