Symbol
| STHEEX
|
Location
| Xq11.1
|
Name
|
Startle disease, hyperekplexia, with epilepsia |
Other name(s)
|
Epileptic encephalopathy, early infantile, 8 |
Corresponding gene
|
ARHGEF9
|
Other symbol(s)
| EIEE8
|
Main clinical features
|
cyanosis and muscular stiffness, tonic seizures that were provoked by tactile stimulation, with progressive epileptic encephalopathy, and severe mental retardation
in females, mild mental retardation with pronounced sensory hyperarousal |
Genetic determination
| sex linked |
Function/system disorder
Type
| disease
| |