Conditions / Syndrome
primary ciliary dyskinesia 53
info · Syndrome
A primary ciliary dyskinesia characterized by randomization of the left-right body asymmetry and respiratory symptoms that has_material_basis_in homozygous mutation in the CLXN gene on chromosome 8q11.
Signs and symptoms
- Abdominal situs inversus
- Pulmonary arterial hypertension
- Respiratory insufficiency
- Recurrent pneumonia
- Cerebellar vermis hypoplasia
- Situs inversus totalis
- Cardiomegaly
- Persistent left superior vena cava
- Dilated fourth ventricle
- Common atrium
Also known as: CILD53