| Disease ID | Source | Name | Description |
| 618300 | OMIM | Ciliary dyskinesia, primary, 40 (CILD40) | A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD40 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. |