Term Name: | primary ciliary dyskinesia 14 |
---|---|
Synonyms: | CILD14, primary ciliary dyskinesia 14 with or without situs inversus |
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. |
Ontology: | Human Disease [DOID:0110598] ( DOID:0110598 ) |