Conditions / Syndrome
primary ciliary dyskinesia 24
info · Syndrome · ICD-10: Q34.8
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with sinopulmonary infection and subfertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH1 gene on chromosome 21q22.
Signs and symptoms
- Infertility
- Chronic rhinitis
- Recurrent sinusitis
- Decreased nasal nitric oxide
- Bronchiectasis
- Recurrent otitis media
- Ciliary dyskinesia
- Neonatal respiratory distress
- Chronic pulmonary obstruction
- Immotile cilia
Also known as: CILD24; primary ciliary dyskinesia 24 without situs inversus