You are using an outdated browser. Please upgrade your browser to improve your experience.
hyperekplexia 3
Disease Summary
Associated Targets (1)
Tchem
1
Mondo Description Any hereditary hyperekplexia in which the cause of the disease is a mutation in the SLC6A5 gene.
Uniprot Description A neurologic disorder characterized by neonatal hypertonia, an exaggerated startle response to tactile or acoustic stimuli, and life-threatening neonatal apnea episodes. Notably, in some cases, symptoms resolved in the first year of life.