Symbol
| ICS34
|
Location
| 2p23.2
|
Name
|
immotile cilia syndrome 34 |
Other name(s)
|
Ciliary dyskinesia, primary, 21 |
Corresponding gene
|
DRC1
|
Other symbol(s)
| CILD21
|
Main clinical features
|
characterized by infantile onset of chronic sinopulmonary infections resulting from abnormal ciliary function
electron microscopy of respiratory epithelial cells shows normal outer and inner dynein arms, but absence of nexin links and defects in the nexin-dynein regulatory complex (N-DRC) |
Genetic determination
| autosomal recessive |
Function/system disorder
| respiratory |
Type
| disease
|