primary ciliary dyskinesia 13 (DOID:0110618)
Alliance: disease page
Synonyms: CILD13; primary ciliary dyskinesia 13 with or without situs inversus
Alt IDs: OMIM:613193, ICD10CM:Q34.8
Definition: A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-q24.