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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.
Mondo Term and Equivalent IDs
MONDO:0013827:  hyperekplexia 3
UMLS:C3553288: