Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of the respiratory system
Autosomal recessive
8q22.2
Primary ciliary dyskinesia-28 (CILD28) is an autosomal recessive disorder caused by defective ciliary movement. Affected individuals have recurrent upper and lower airway disease, bronchiectasis, and decreased fertility. About half of patients show laterality defects, including situs inversus. Respiratory cilia from patients show defects in both the inner and outer dynein arms. [From OMIM]
| Subject ID | Country | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference |
|---|---|---|---|---|---|---|
| 615505.1 | Palestine | Neonatal respiratory distress; Cough; Si... Neonatal respiratory distress; Cough; Sinusitis; Recurrent pneumonia; Wheezing; Bronchiolectasis  | NM_003114.5:c.742C>T | Homozygous | Autosomal, Recessive | Rumman et al. 2023 |