Conditions / Syndrome
primary ciliary dyskinesia 40
info · Syndrome
A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has_material_basis_in h
A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH9 gene on chromosome 17p12.
Signs and symptoms
- Chronic rhinitis
- Cough
- Chronic sinusitis
- Absent outer dynein arms
- Infertility
- Azoospermia
- Situs inversus totalis
- Decreased nasal nitric oxide
- Reduced respiratory ciliary beating frequency
- Unbalanced atrioventricular canal defect
Also known as: CILD40; primary ciliary dyskinesia 40 with or without situs inversus