primary ciliary dyskinesia 41 (DOID:0111858)
Alliance: disease page
Synonyms: CILD41
Alt IDs: OMIM:618449
Definition: A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has_material_basis_in homozygous or compound heterozygous mutation in the GAS2L2 gene on chromosome 17q12.