primary ciliary dyskinesia 27
Findings
No curated finding names primary ciliary dyskinesia 27 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 CCDC65 gene.
Definition from the Mondo Disease Ontology (MONDO:0014215), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
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
- 4 of 4 reported patients
- Decreased nasal nitric oxideHPOHP:0033036
- 3 of 3 reported patients
- Recurrent otitis mediaHPOHP:0000403
- 3 of 3 reported patients
- Recurrent respiratory infectionsHPOHP:0002205
- 1 of 1 reported patient
- Chronic sinusitisHPOHP:0011109
- 2 of 3 reported patients
- Neonatal respiratory distressHPOHP:0002643
- 1 of 3 reported patients · Neonatal onset
- Situs inversus totalisHPO
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.
- HGNC:29937HGNC:29937
- Definitive · ClinGen · Autosomal recessive · 2024
- Definitive · G2P · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
Where it sits
- A kind of
Other names
5 names
Resolves to: primary ciliary dyskinesia 27
- Also called
- CCDC65 primary ciliary dyskinesiaCILD27ciliary dyskinesia, primary, type 27primary ciliary dyskinesia caused by mutation in CCDC65primary ciliary dyskinesia type 27