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References OMIM Gene GeneReviews HGMD HGNC
last update : 19-11-2018
Symbol EFMR
Location Xq13.3
HGNC id 3220
Name epilepsy, female restricted, with mental retardation
Other name(s)
  • Juberg-Heilman disease
  • Epileptic encephalopathy, early infantile, 9
  • Corresponding gene PCDH19
    Other symbol(s) JHD, EIEE9
    Main clinical features
  • convulsive disorder of early onset with mental retardation, dominant, female limited (mutated male, phenotypically normal)
  • seizure onset in infancy or early childhood (6-36 months) and cognitive impairment, ataxia
  • Dravet-like syndrome
  • restricted to females, and starts with global and speech developmental delay and epilepsy; intellectual disability may continue in adults (PMID: 30653859))
  • intellectual disability might be present, ranging from mild to severe; behavioral and psychiatric problems are a common feature of the disorder, including aggressiveness, depressed mood, and psychotic traits (PMID: 25499160))
  • Genetic determination sex linked
    Function/system disorder mental retardation
    Type disease
    Genotype/Phenotype correlations
  • in a girl with epilepsy, developmental delay, and autistic conversion associated with posterior reversible leukoencephalopathy and tractopathy produced by PCDH19 mutation (c.142G>T/ p.Glu48X) (PMID: 30653859))