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GENATLAS PHENOTYPE

last update : 18-11-2016

Symbol	EIEE45
Location	4p12
Name	epileptic encephalopathy, early infantile, 45
Corresponding gene	GABRB1
Main clinical features	early infantile epileptic encephalopathy with global developmental delay, hypotonia, ataxia, cortical visual impairment, and thin corpus callosum EEG showed hypsarrhythmia
Genetic determination	not applicable
Function/system disorder	neurology
Type	disease

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