CILD20 is an autosomal recessive ciliopathy characterized by infantile onset of chronic sinopulmonary infections resulting from immotile cilia and defective clearance. Patients may also have situs inversus or cardiac anomalies. Electron microscopy of respiratory epithelial cells shows absence of the outer dynein arms. Unlike other forms of CILD, patients with CILD20 do not appear to be infertile. For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see 244400.

Autosomal visceral heterotaxy-8 (HTX8) is an autosomal recessive developmental disorder characterized by visceral situs inversus associated with complex congenital heart malformations caused by defects in the normal left-right asymmetric positioning of internal organs (summary by Vetrini et al., 2016). For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).