primary ciliary dyskinesia 39 (DOID:0111854)
Alliance: disease page
Synonyms: CILD39; primary ciliary dyskinesia 39 with or without situs inversus
Alt IDs: OMIM:618254
Definition: A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the LRRC56 gene on chromosome 11p15.5.