primary ciliary dyskinesia 18

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, early infantile onset of recurrent sinopulmonary infections, male infertility, and variable occurence of situs inversus and has_materi

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, early infantile onset of recurrent sinopulmonary infections, male infertility, and variable occurence of situs inversus and has_material_basis_in homozygous mutation in the HEATR2 gene on chromosome 7p22.

Signs and symptoms

• Decreased nasal nitric oxide
• Absent inner dynein arms
• Absent outer dynein arms
• Immotile cilia
• Recurrent sinusitis
• Rhinitis
• Neonatal respiratory distress
• Male infertility
• Immotile sperm
• Respiratory insufficiency due to defective ciliary clearance

Also known as: CILD18; primary ciliary dyskinesia 18 with or without situs inversus