Conditions / Syndrome
primary ciliary dyskinesia 55
info · Syndrome
A primary ciliary dyskinesia characterized by impairment of the function of the motile cilia of the airways, resulting in chronic respiratory tract infections and has_material_basis_in homozygous or compound heterozygous mutation in the CFAP221 gene on chromos
A primary ciliary dyskinesia characterized by impairment of the function of the motile cilia of the airways, resulting in chronic respiratory tract infections and has_material_basis_in homozygous or compound heterozygous mutation in the CFAP221 gene on chromosome 2q14.
Signs and symptoms
- Recurrent sinopulmonary infections
- Congenital pulmonary airway malformation
- Bronchiectasis
- Recurrent bronchitis
- Azoospermia
Also known as: Azoospermia-sinopulmonary infections syndrome; Sinusitis-infertility syndrome; young syndrome