primary ciliary dyskinesia 14 (DOID:0110598)
Alliance: disease page
Synonyms: CILD14; primary ciliary dyskinesia 14 with or without situs inversus
Alt IDs: OMIM:613807, ICD10CM:Q34.8
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26.