primary ciliary dyskinesia 42 (DOID:0111855)
Alliance: disease page
Synonyms: CILD42; primary ciliary dyskinesia 42 without situs inversus
Alt IDs: OMIM:618695
Definition: A primary ciliary dyskinesia characterized by severe reduction or absence of multiple motile cilia in respiratory epithelia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the MCIDAS gene on chromosome 5q11.2.