primary ciliary dyskinesia 48

A primary ciliary dyskinesia characterized by recurrent upper and lower respiratory infections due to impaired ciliary movement and clearance, resulting from defects in the radial spokes and central pairs of microtubules in motile cilia that has_material_basis

A primary ciliary dyskinesia characterized by recurrent upper and lower respiratory infections due to impaired ciliary movement and clearance, resulting from defects in the radial spokes and central pairs of microtubules in motile cilia that has_material_basis_in homozygous mutation in the NME5 gene on chromosome 5q31. Situs abnormalities have not been reported.

Signs and symptoms

• Absent central microtubular pair morphology of respiratory motile cilia
• Bronchiectasis
• Recurrent otitis media
• Recurrent pneumonia
• Recurrent sinusitis
• Situs inversus totalis

Also known as: CILD48