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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

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