Symbol
| EDS10
|
Location
| 2q34
|
Name
|
Ehlers-Danlos syndrome, type X |
Other name(s)
|
Ehlers-Danlos syndrome, with platelet dysfunction from fibronectin abnormality
Ehlers-Danlos syndrome, dysfibronectinemic type |
Corresponding gene
|
FN1
|
Other symbol(s)
| EDSX
|
Main clinical features
|
defect in platelet aggregation in response to collagen which is partially corrected by normal plasma or cryoprecipitate, suggesting a functionally abnormal fibronectin |
Genetic determination
| autosomal recessive |
Function/system disorder
| connective tissue |
Type
| disease
|