Disease: Hyperexplexia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		0.020 Biomarker phenotype BEFREE This family reveals that the phenotypic spectrum of ARHGEF9 is broader than commonly assumed and includes febrile seizures and focal epilepsy with intellectual disability in the absence of hyperekplexia or other clinically distinguishing features. 28620718 2017
CUI: C0234166
Disease: Hyperexplexia
Hyperexplexia 		0.020 GeneticVariation phenotype BEFREE Three previously reported mutations of ARHGEF9 consisted of a missense mutation in a male patient with hyperekplexia and two chromosomal disruptions in two female patients. 21633362 2011