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GENATLAS PHENOTYPE

last update : 05-07-2016

Symbol	EIEE36
Location	Xq23
Name	epileptic encephalopathy, early infantile, 36
Corresponding gene	ALG13
Main clinical features	neurodevelopmental disorder characterized by onset of seizures in infancy followed by delayed psychomotor development, with dysmorphic features focal infantile spasms, global developmental delay and severe intellectual disability EEG showed hypsarrhythmia and multifocal discharges; brain MRI showed cerebral atrophy
Genetic determination
Function/system disorder
Type	disease

Remark(s)