Conditions / Syndrome

primary ciliary dyskinesia 36

info ยท Syndrome

A primary ciliary dyskinesia characterized by absence of outer dynein arms, defects in inner dynein arms, chronic airway disease and recurrent sinopulmonary infections, male infertility, and laterality defects in about half of patients that has_material_basis_

A primary ciliary dyskinesia characterized by absence of outer dynein arms, defects in inner dynein arms, chronic airway disease and recurrent sinopulmonary infections, male infertility, and laterality defects in about half of patients that has_material_basis_in hemizygous mutation in the PIH1D3 gene on chromosome Xq22.3.

Signs and symptoms

  • Bronchiectasis
  • Male infertility
  • Decreased nasal nitric oxide
  • Cough
  • Recurrent respiratory infections
  • Chronic otitis media
  • Nasal congestion
  • Recurrent sinusitis
  • Situs inversus totalis
  • Neonatal respiratory distress

Also known as: CILD36; X-linked primary ciliary dyskinesia 36