primary ciliary dyskinesia 3

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the DNAH5 ge

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the DNAH5 gene on chromosome 5p15.

Signs and symptoms

• Decreased nasal nitric oxide
• Recurrent otitis media
• Recurrent sinusitis
• Bronchiectasis
• Neonatal respiratory distress
• Ciliary dyskinesia
• Situs inversus totalis
• Recurrent respiratory infections

Also known as: CILD3; primary ciliary dyskinesia 3 with or without situs inversus