| Symbol
| STHE1
|
| Location
| 5q33.1
|
| Name
|
Startle disease, hyperekplexia 1 |
| Other name(s)
|
Stiff-baby syndrome
Stiff-man syndrome, congenital
Stiff-person syndrome, congenital
Kok disease |
| Corresponding gene
|
GLRA1
|
| Main clinical features
|
neonatal hypertonia and an exaggerated startle reflex, characterized by difficulty in making sudden movements
can have serious consequences, including brain damage and/or sudden infant death |
| Genetic determination
| autosomal dominant |
|
| autosomal recessive |
| Function/system disorder
| neurology |
| Type
| disease
|