primary ciliary dyskinesia 15

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect, axonemal disorganization, recurrent respiratory infections and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC40

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect, axonemal disorganization, recurrent respiratory infections and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC40 gene on chromosome 17q25.

Signs and symptoms

• Cough
• Wheezing
• Immotile sperm
• Chronic bronchitis
• Recurrent respiratory infections
• Rhinorrhea
• Chronic sinusitis
• Recurrent otitis media
• Neonatal respiratory distress
• Situs inversus totalis

Also known as: CILD15; primary ciliary dyskinesia 15 with or without situs inversus