primary ciliary dyskinesia 43 (DOID:0111856)
Alliance: disease page
Synonyms: CILD43; primary ciliary dyskinesia 43 with or without situs inversus
Alt IDs: OMIM:618699
Definition: A primary ciliary dyskinesia characterized by reduced generation of multiple motile cilia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections,variable infertility, and laterality defects in about half of patients that has_material_basis_in heterozygous mutation in FOXJ1 on chromosome 17q25.1.