primary ciliary dyskinesia 28 (DOID:0110607)
Alliance: disease page
Synonyms: CILD28; primary ciliary dyskinesia 28 with or without situs inversus
Alt IDs: OMIM:615505, ICD10CM:Q34.8
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, and decreased fertility and has_material_basis_in homozygous or compound heterozygous mutation in the SPAG1 gene on chromosome 8q22.