Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 13-02-2018
Symbol EIEE53
Location 21q22.11
Name epileptic encephalopathy, early infantile, 53
Corresponding gene SYNJ1
Main clinical features
  • severe neurodegenerative disorder characterized by onset of intractable seizures in infancy; affected individuals show hypotonia and very poor or absent global development, resulting in severe intellectual disability and spastic quadriplegia
  • Genetic determination autosomal recessive
    autosomal recessive
    Function/system disorder mental retardation
    neurology
    Type disease
    Remark(s)