primary ciliary dyskinesia 13

A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-

A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-q24.

Signs and symptoms

• Absent outer dynein arms
• Bronchiectasis
• Immotile cilia
• Infertility
• Recurrent bronchitis
• Absent inner dynein arms
• Recurrent sinusitis
• Situs inversus totalis
• Recurrent otitis media
• Ciliary dyskinesia

Also known as: CILD13; primary ciliary dyskinesia 13 with or without situs inversus