Conditions / Syndrome
primary ciliary dyskinesia 9
info · Syndrome · ICD-10: Q34.8
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozyg
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAI2 gene on chromosome 17q25.
Signs and symptoms
- Decreased nasal nitric oxide
- Chronic sinusitis
- Absent outer dynein arms
- Recurrent otitis media
- Chronic otitis media
- Bronchiectasis
- Neonatal respiratory distress
- Situs inversus totalis
- Chronic rhinitis
- Male infertility
Also known as: CILD9; primary ciliary dyskinesia 9 with or without situs inversus