Conditions / Syndrome
primary ciliary dyskinesia 1
info · Syndrome · ICD-10: Q34.8
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13.
Signs and symptoms
- Chronic sinusitis
- Atelectasis
- Absent outer dynein arms
- Immotile cilia
- Recurrent bronchitis
- Chronic otitis media
- Chronic rhinitis
- Situs inversus totalis
- Bronchiectasis
- Male infertility
Also known as: CILD1; primary ciliary dyskinesia 1 with or without situs inversus