primary ciliary dyskinesia 16

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absence of ciliary outer dynein arms, early infantile onset of respiratory distress, and variable occurrence of situs inversus and has_material_basis_in homozygous mutat

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absence of ciliary outer dynein arms, early infantile onset of respiratory distress, and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the DNAL1 gene on chromosome 14q24.3.

Signs and symptoms

• Chronic rhinitis
• Situs inversus totalis
• Absent outer dynein arms
• Abnormal ciliary motility
• Chronic otitis media
• Bronchiectasis
• Ciliary dyskinesia
• Pulmonic regurgitation
• Chronic sinusitis

Also known as: CILD16; primary ciliary dyskinesia 16 with or without situs inversus