Hereditary hyperekplexia due to Glycine receptor subunit mutations (Q83851): Difference between revisions
From determinar.ia.br - Determine suas informações
Changed an Item |
Changed an Item |
||
| Property / Verification Status | |||
Concluído | |||
| Property / Verification Status: Concluído / rank | |||
Normal rank | |||
Revision as of 09:13, 15 August 2026
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. |
Statements
CID11:ID_693631704
0 references
dki-india-ID_693631704
0 references
Concluído
0 references
