Primary ciliary dyskinesia-17 is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with a defect in the function of ciliary outer dynein arms. Situs inversus is variable. [From OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Congenital malformations of the respiratory system
Autosomal recessive
17q21.31
Primary ciliary dyskinesia-17 is an autosomal recessive disorder characterized by early infantile onset of respiratory distress associated with a defect in the function of ciliary outer dynein arms. Situs inversus is variable. [From OMIM]
| Subject ID | Country | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference |
|---|---|---|---|---|---|---|
| 614679.1 | Palestine | Neonatal respiratory distress; Cough; Si... Neonatal respiratory distress; Cough; Sinusitis; Recurrent pneumonia; Wheezing; Bronchiolectasis; Abnormal pulmonary situs morphology  | NM_213607.3:c.104G>C | Homozygous | Autosomal, Recessive | Rumman et al. 2023 |