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References OMIM Gene GeneReviews HGMD HGNC
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