Hereditary hyperekplexia due to Glycine receptor subunit mutations (Q83851)
From determinar.ia.br - Determine suas informações
Hereditary hyperekplexia characterised by 3 characteristics: a generalised stiffness after birth; excessive startling to an unexpected stimulus, particularly auditory stimuli; and generalised stiffness after a startle reflex that lasts a few seconds. The hereditary form is autosomal dominant and associated with a glycine receptor mutation.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_693631704 |
||
| English | Hereditary hyperekplexia due to Glycine receptor subunit mutations |
Hereditary hyperekplexia characterised by 3 characteristics: a generalised stiffness after birth; excessive startling to an unexpected stimulus, particularly auditory stimuli; and generalised stiffness after a startle reflex that lasts a few seconds. The hereditary form is autosomal dominant and associated with a glycine receptor mutation. |
