ciliary dyskinesia, primary, 44
MONDO:0032914Mondo
Findings
No curated finding names ciliary dyskinesia, primary, 44 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal 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
- 9 of 9 reported patients
- Recurrent sinusitisHPOHP:0011108
- 8 of 9 reported patients
- Reduced forced expiratory volume in one secondHPOHP:0032342
- 6 of 7 reported patients
- Reduced forced vital capacityHPOHP:0032341
- 5 of 7 reported patients
- Neonatal respiratory distressHPOHP:0002643
- 2 of 9 reported patients · Neonatal onset
- Otitis mediaHPOHP:0000388
- 2 of 9 reported patients · Childhood onset
- Abnormal sweat electrolytesHPOHP:0040128
- 0 of 5 reported patients
- Decreased nasal nitric oxideHPOHP:0033036
- 0 of 4 reported patients
- HeterotaxyHPOHP:0030853
- 0 of 9 reported patients
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.
- NEK10HGNC:18592
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2020
Where it sits
- A kind of