Conditions / Syndrome
primary ciliary dyskinesia 41
info · Syndrome
A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has_material_basis_in homozygous or compound heterozygous mutation in the GAS2L2 gene on
A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has_material_basis_in homozygous or compound heterozygous mutation in the GAS2L2 gene on chromosome 17q12.
Signs and symptoms
- Impaired nasal mucociliary clearance
- Bronchiectasis
- Infertility
- Recurrent otitis media
- Immotile sperm
- Recurrent sinusitis
Also known as: CILD41