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GENATLAS PHENOTYPE

last update : 18/10/2005

Symbol	STHE2
Location	14q23.3
Name	Startle disease, hyperekplexia 2
Corresponding gene	GPHN
Main clinical features	neonatal hypertonia and an greatly exaggerated startle responses, which were sometimes associated with falling, markedly hyperactive brainstem reflexes can have serious consequences, including brain damage and/or sudden infant death
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

Gene product

Name

gephyrin

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense		unknown

Remark(s)