Conditions / Syndrome
primary ciliary dyskinesia 29
info · Syndrome · ICD-10: Q34.8
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with oligocilia and early childhood onset of recurrent respiratory infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCNO gene on chro
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with oligocilia and early childhood onset of recurrent respiratory infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCNO gene on chromosome 5p15.
Signs and symptoms
- Bronchiectasis
- Infertility
- Decreased nasal nitric oxide
- Recurrent respiratory infections
- Ciliary dyskinesia
- Atelectasis
- Decreased circulating immunoglobulin concentration
- Situs inversus totalis
- Elevated sweat chloride
Also known as: CILD29; primary ciliary dyskinesia 29 without situs inversus