primary ciliary dyskinesia 38

A primary ciliary dyskinesia characterized by significant loss of both the inner and outer dynein arms, chronic airway disease, recurrent sinopulmonary infections, and laterality defects in about half of patients that has_material_basis_in homozygous or compou

A primary ciliary dyskinesia characterized by significant loss of both the inner and outer dynein arms, chronic airway disease, recurrent sinopulmonary infections, and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP300 gene on chromosome 11q22.1.

Signs and symptoms

• Decreased nasal nitric oxide
• Productive cough
• Absent inner and outer dynein arms
• Immotile cilia
• Neonatal respiratory distress
• Situs inversus totalis
• Dextrocardia
• Bronchiectasis
• Chronic sinusitis
• Rhinitis

Also known as: CILD38; primary ciliary dyskinesia 38 with or without situs inversus