primary ciliary dyskinesia 27

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis and has_material_basis_in homozygous mutation in the CCDC65 gene on chromosom

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis and has_material_basis_in homozygous mutation in the CCDC65 gene on chromosome 12q13.

Signs and symptoms

• Bronchiectasis
• Decreased nasal nitric oxide
• Recurrent otitis media
• Recurrent respiratory infections
• Chronic sinusitis
• Recurrent sinusitis
• Respiratory insufficiency due to defective ciliary clearance
• Ciliary dyskinesia
• Rhinitis
• Chronic bronchitis

Also known as: CILD27; primary ciliary dyskinesia 27 without situs inversus