primary ciliary dyskinesia 9 (DOID:0110622)
Alliance: disease page
Synonyms: CILD9; primary ciliary dyskinesia 9 with or without situs inversus
Alt IDs: OMIM:612444, ICD10CM:Q34.8
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAI2 gene on chromosome 17q25.