Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 22/10/2008

Symbol	STHE4
Location	4q31.3
Name	Startle disease, hyperekplexia 4
Corresponding gene	GLRB
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
Function/system disorder	neuromuscular
Type	disease

Remark(s)