primary ciliary dyskinesia 20 (DOID:0110625)
Alliance: disease page
Synonyms: CILD20; primary ciliary dyskinesia 20 with or without situs inversus
Alt IDs: OMIM:615067, ICD10CM:Q34.8
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.