primary ciliary dyskinesia 25

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

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, decreased fertility and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the DYX1C1 gene on chromosome 15q21.

Signs and symptoms

• Infertility
• Immotile cilia
• Recurrent otitis media
• Recurrent sinusitis
• Neonatal respiratory distress
• Ciliary dyskinesia
• Recurrent respiratory infections
• Bronchiectasis
• Situs inversus totalis
• Chronic pulmonary obstruction

Also known as: CILD25; primary ciliary dyskinesia 25 with or without situs inversus