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hyperekplexia 2

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description Any hereditary hyperekplexia in which the cause of the disease is a mutation in the GLRB gene.
Uniprot Description A neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and by an exaggerated startle response to unexpected acoustic or tactile stimuli.
Mondo Term and Equivalent IDs
MONDO:0013828:  hyperekplexia 2
UMLS:C3553291: