primary ciliary dyskinesia 28

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, and decreased fertility and has_material_basis_in homozygous or compound het

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, and decreased fertility and has_material_basis_in homozygous or compound heterozygous mutation in the SPAG1 gene on chromosome 8q22.

Signs and symptoms

• Decreased nasal nitric oxide
• Dynein arm defect of respiratory motile cilia
• Neonatal respiratory distress
• Recurrent sinusitis
• Recurrent otitis media
• Situs inversus totalis
• Bronchiectasis
• Respiratory insufficiency due to defective ciliary clearance
• Ciliary dyskinesia
• Rhinitis

Also known as: CILD28; primary ciliary dyskinesia 28 with or without situs inversus