Conditions / Syndrome
primary ciliary dyskinesia 19
info · Syndrome · ICD-10: Q34.8
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, chronic sinopulmonary infections, asthenospermia, and immotile cilia and has_material_basis_in homozygous mutation in the LRRC6 gene o
A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, chronic sinopulmonary infections, asthenospermia, and immotile cilia and has_material_basis_in homozygous mutation in the LRRC6 gene on chromosome 8q24.
Signs and symptoms
- Male infertility
- Immotile cilia
- Recurrent sinusitis
- Rhinitis
- Chronic bronchitis
- Bronchiectasis
- Absent inner and outer dynein arms
- Respiratory insufficiency due to defective ciliary clearance
- Ciliary dyskinesia
- Recurrent otitis media
Also known as: CILD19; primary ciliary dyskinesia 19 with or without situs inversus