Primary ciliary dyskinesia-16 (CILD16) is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with absence of ciliary outer dynein arms. [From OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of the respiratory system
Autosomal recessive
14q24.3
Primary ciliary dyskinesia-16 (CILD16) is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with absence of ciliary outer dynein arms. [From OMIM]
| Subject ID | Country | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference |
|---|---|---|---|---|---|---|
| 614017.1 | Palestine | Neonatal respiratory distress; Cough; Si... Neonatal respiratory distress; Cough; Sinusitis; Recurrent pneumonia; Wheezing; Bronchiolectasis  | NM_031427.4:c.286GAA[1] | Homozygous | Autosomal, Recessive | Rumman et al. 2023 |