Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Absent outer dynein arms
Always present (100%)HP:0012256
Bronchitis, recurrent
Always present (100%)HP:0002837
Immotile cilia
Always present (100%)HP:0012263
Abnormal sperm motility
Frequent (30-79%)HP:0012206
Abnormal sputum morphology
Frequent (30-79%)HP:0032016
Chronic middle ear infection
Frequent (30-79%)HP:0000389
Chronic rhinitis
Frequent (30-79%)HP:0002257
Chronic sinus disease
Frequent (30-79%)HP:0011109
Cough with mucus production
Frequent (30-79%)HP:0031245
Male infertility
Frequent (30-79%)HP:0003251
Nasal congestion
Frequent (30-79%)HP:0001742
Nasal polyps
Frequent (30-79%)HP:0100582
Recurrent middle ear infection
Frequent (30-79%)HP:0000403
Recurrent sinopulmonary infections
Frequent (30-79%)HP:0005425
Respiratory distress, neonatal
Frequent (30-79%)HP:0002643
Respiratory infection
Frequent (30-79%)HP:0011947
Abnormality of cardiovascular system morphology
Occasional (5-29%)HP:0030680
Bronchiectasis
Occasional (5-29%)HP:0002110
Cardiac anomaly
Occasional (5-29%)HP:0001627
Central nervous system disease
Occasional (5-29%)HP:0002011
Digital clubbing
Occasional (5-29%)HP:0001217
Female infertility
Occasional (5-29%)HP:0008222
Genitourinary disease
Occasional (5-29%)HP:0000119
Hearing impairment
Occasional (5-29%)HP:0000365
Hearing loss, conductive
Occasional (5-29%)HP:0000405
Lithoptysis
Occasional (5-29%)HP:0032543
Obstructive lung disease
Occasional (5-29%)HP:0006536
Peribronchovascular interstitial thickening
Occasional (5-29%)HP:0025177
Pulmonary atelectasis
Occasional (5-29%)HP:0100750
Pulmonary situs ambiguus
Occasional (5-29%)HP:0011617
Related Conditions
Primary ciliary dyskinesia due to transposition of ciliary microtubules(child)
Immotile cilia syndrome due to defective radial spokes(child)
Young's syndrome(child)
Rutland ciliary disorientation syndrome(child)
Kartagener syndrome(child)
Inherited mucociliary clearance defect(parent)
Malformation sequence(parent)
Recessive hereditary disorder (autosomal)(parent)
Developmental hereditary disorder(parent)
Congenital malformation of the respiratory system(parent)
Quick Facts
- SNOMED CT
- 86204009
- UMLS CUI
- C4551720
- Fully Specified Name
- Immotile cilia syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.