primary ciliary dyskinesia 17

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects and has_material_basis_in homozygous mutat

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC103 gene on chromosome 17q21.

Signs and symptoms

• Dynein arm defect of respiratory motile cilia
• Ciliary dyskinesia
• Bronchiectasis
• Cough
• Chronic sinusitis
• Recurrent respiratory infections
• Chronic rhinitis
• Situs inversus totalis
• Dextrocardia
• Recurrent otitis media

Also known as: CILD17; primary ciliary dyskinesia 17 with or without situs inversus