Primary ciliary dyskinesia is a genetically heterogeneous autosomal recessive disorder resulting from loss of function of different parts of the primary ciliary apparatus, most often dynein arms. [From OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of the respiratory system
Autosomal recessive
6q22.1
Primary ciliary dyskinesia is a genetically heterogeneous autosomal recessive disorder resulting from loss of function of different parts of the primary ciliary apparatus, most often dynein arms. [From OMIM]
| Subject ID | Country | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference |
|---|---|---|---|---|---|---|
| 612649.1 | Palestine | Neonatal respiratory distress; Cough; Si... Neonatal respiratory distress; Cough; Sinusitis; Recurrent pneumonia; Wheezing; Bronchiolectasis  | NM_001010892.3:c.368del | Homozygous | Autosomal, Recessive | Rumman et al. 2023 |
| 612649.2 | Palestine | Neonatal respiratory distress; Cough; Si... Neonatal respiratory distress; Cough; Sinusitis; Recurrent pneumonia; Wheezing; Bronchiolectasis | NM_001010892.3:c.72G>A | Homozygous | Autosomal, Recessive | Rumman et al. 2023 |