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GENATLAS PHENOTYPE

last update : 03-03-2017

Symbol	EIEE51
Location	7q11.23
Name	epileptic encephalopathy, early infantile, 51
Corresponding gene	MDH2
Main clinical features	neurodevelopmental disorder characterized by onset of intractable seizures and hypotonia in the first days or weeks of life severely delayed psychomotor development and may show abnormal movements brain imaging shows nonspecific abnormalities, such as cerebral atrophy, cerebellar atrophy, and delayed myelination
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	neurology
Type	disease

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