primary ciliary dyskinesia 26

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, neonatal respiratory distress, recurrent upper and lower airway disease, bronchiectasis, and variable occurence of laterality defects

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, neonatal respiratory distress, recurrent upper and lower airway disease, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the C21ORF59 gene on chromosome 21q22.

Signs and symptoms

• Decreased nasal nitric oxide
• Recurrent sinusitis
• Immotile cilia
• Neonatal respiratory distress
• Situs inversus totalis
• Recurrent otitis media
• Bronchiectasis
• Reduced sperm motility
• Respiratory insufficiency due to defective ciliary clearance
• Ciliary dyskinesia

Also known as: CILD26; primary ciliary dyskinesia 26 with or without situs inversus