primary ciliary dyskinesia 20

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, infantile onset of chronic sinopulmonary infections, and variable occurence of laterality defects and has_material_basis_in homozygous or compou

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, infantile onset of chronic sinopulmonary infections, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC114 gene on chromosome 19q13.

Signs and symptoms

• Bronchiectasis
• Absent outer dynein arms
• Recurrent otitis media
• Productive cough
• Recurrent sinusitis
• Rhinorrhea
• Atelectasis
• Respiratory insufficiency due to defective ciliary clearance
• Ciliary dyskinesia
• Recurrent respiratory infections

Also known as: CILD20; primary ciliary dyskinesia 20 with or without situs inversus