Disease ID | Source | Name | Description |
618449 | OMIM | Ciliary dyskinesia, primary, 41 (CILD41) | 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. CILD41 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry. Absence of GAS2L2 results in ciliary orientation defect and affects performance of cilia. |