Disease ID | Source | Name | Description |
618801 | OMIM | Ciliary dyskinesia, primary, 45 (CILD45) | 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. CILD45 is an autosomal recessive form characterized by onset of symptoms in infancy or early childhood. Male patients have infertility due to immotile sperm. The disease is caused by variants affecting the gene represented in this entry. |