Conditions / Syndrome
primary ciliary dyskinesia 39
info · Syndrome
A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous
A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the LRRC56 gene on chromosome 11p15.5.
Signs and symptoms
- Chronic lung disease
- Recurrent lower respiratory tract infections
- Double outlet right ventricle
- Decreased nasal nitric oxide
- Cough
- Recurrent otitis media
- Rhinorrhea
- Bronchiectasis
- Dextrocardia
Also known as: CILD39; primary ciliary dyskinesia 39 with or without situs inversus