| Term Name: | primary ciliary dyskinesia 46 |
|---|---|
| Synonyms: | CILD46 |
| Definition: | A primary ciliary dyskinesia characterized by recurrent sinus and respiratory infections, with reduced pulmonary function and uncoordinated beating of respiratory cilia that has_material_basis_in homozygous mutation in the STK36 gene on chromosome 2q35. Situs abnormalities have not been reported. |
| Ontology: | Human Disease [DOID:0070758] ( DOID:0070758 ) |