You are using an outdated browser. Please upgrade your browser to improve your experience.

hyperekplexia 1

Disease Summary
Associated Targets (4)
Tclin

2

Tchem

1

Tbio

1


Mondo Description A hyperekplexia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32.
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:0007868:  hyperekplexia 1