primary ciliary dyskinesia 22

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent respiratory infections, persistent rhinosinusitis, otitis media, chronic cough, variable presence of situs abnormalities, an

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent respiratory infections, persistent rhinosinusitis, otitis media, chronic cough, variable presence of situs abnormalities, and has_material_basis_in homozygous or compound heterozygous mutation in the ZMYND10 gene on chromosome 3p21.

Signs and symptoms

• Decreased nasal nitric oxide
• Immotile cilia
• Absent inner and outer dynein arms
• Neonatal respiratory distress
• Rhinitis
• Recurrent otitis media
• Bronchiectasis
• Recurrent sinusitis
• Situs inversus totalis
• Reduced sperm motility

Also known as: CILD22; primary ciliary dyskinesia 22 with or without situs inversus