Conditions / Syndrome
primary ciliary dyskinesia 52
info · Syndrome
A primary ciliary dyskinesia characterized by laterality defects and mild respiratory symptoms due to subtle ciliary beating defects that has_material_basis_in homozygous or compound heterozygous mutation in the DAW1 gene on chromosome 2q36.
Signs and symptoms
- Atrial septal defect
- Recurrent otitis media
- Situs inversus totalis
- Abdominal situs ambiguus
- Hypoplastic left ventricle
- Ventricular septal defect
- Double outlet right ventricle
- Pulmonic stenosis
- Recurrent lower respiratory tract infections
- Chronic cough
Also known as: CILD52