| Disease ID | Source | Name | Description |
| 618695 | OMIM | Ciliary dyskinesia, primary, 42 (CILD42) | 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. Other more variable features may include infertility and mild hydrocephalus. Patients with this form of the disorder do not have situs abnormalities. CILD42 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. |