Term Name: primary ciliary dyskinesia 20
Synonyms: CILD20, primary ciliary dyskinesia 20 with or without situs inversus
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, infantile onset of chronic sinopulmonary infections, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC114 gene on chromosome 19q13.
Ontology: Human Disease [DOID:0110625]   ( DOID:0110625 )

Relationships
is a type of: primary ciliary dyskinesia