Conditions / Syndrome
primary ciliary dyskinesia 12
info · Syndrome · ICD-10: Q34.8
A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, and nasal symptoms, and has_material_basis_in homozygous mutation in the RSPH9 gene on chromosome 6p21.
Signs and symptoms
- Reduced sperm motility
- Chronic rhinitis
- Chronic sinusitis
- Bronchiectasis
- Decreased nasal nitric oxide
- Chronic otitis media
- Short stature
- Immotile sperm
- Ciliary dyskinesia
- Abnormal central microtubular pair morphology of respiratory motile cilia
Also known as: CILD12; primary ciliary dyskinesia 12 without situs inversus