Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of the respiratory system
Autosomal recessive
8q24.22
Primary ciliary dyskinesia-19 (CILD19) is an autosomal recessive ciliopathy characterized by chronic sinopulmonary infections, asthenospermia, and immotile cilia. Respiratory epithelial cells and sperm flagella of affected individuals lack both the inner and outer dynein arms. About 50% of patients have situs inversus. [From OMIM]
| Subject ID | Country | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|
| 614935.G.1 | Palestine | Cough; Sinusitis Cough; Sinusitis  | NM_012472.6:c.436G>C | Homozygous | Autosomal, Recessive | Rumman et al. 2023 | Five patients from f... |