Conditions / Syndrome
primary ciliary dyskinesia 34
info · Syndrome
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with childhood onset of recurrent sinopulmonary infections and male infertility and has_material_basis_in homozygous mutation in the DNAJB13 gene on chromosome 11q13.
Signs and symptoms
- Chronic rhinitis
- Bronchiectasis
- Male infertility
- Decreased nasal nitric oxide
- Reduced respiratory ciliary beating frequency
- Immotile sperm
- Recurrent sinusitis
- Recurrent bronchitis
- Absent central microtubular pair morphology of respiratory motile cilia
- Neonatal respiratory distress
Also known as: CILD34; primary ciliary dyskinesia 34 without situs inversus