primary ciliary dyskinesia 32

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with near absence of radial spokes, respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility and

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with near absence of radial spokes, respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH3 gene on chromosome 6q25.

Signs and symptoms

• Chronic rhinitis
• Bronchiectasis
• Decreased nasal nitric oxide
• Chronic sinusitis
• Recurrent otitis media
• Neonatal respiratory distress
• Ciliary dyskinesia
• Absent respiratory ciliary axoneme radial spokes
• Immotile cilia
• Recurrent respiratory infections

Also known as: CILD32; primary ciliary dyskinesia 32 without situs inversus