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GENATLAS PHENOTYPE
last update : 17-08-2012
Symbol ELDX
Location Xp11
Name epilespsy, variable features
Corresponding gene SYN1
Main clinical features associated or not with learning dificulties, macrocephaly or aggressive behavior, mild mental retardation
Genetic determination sex linked
Related entries . also cases with spontaneous complex partial seizures, reflex seizures triggered by bathing or showering and hippocampal atrophy (PMID: 26096837)
Function/system disorder neurology
Type disease
Gene product
Name synapsin 1
Remark(s)
Genotype/Phenotype correlations
  • SYN1 Q555X male mutation carriers showed specific language impairment and mild autistic spectrum disorder (PMID: 26096837))