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GENATLAS PHENOTYPE

last update : 16-03-2018

Symbol	EIEE58
Location	9q21.33
Name	epileptic encephalopathy, early infantile, 58
Corresponding gene	NTRK2
Main clinical features	severe neurodevelopmental disorder characterized by onset of refractory seizures in the first days or months of life, with global developmental delay and intellectual disability, usually with absent speech and inability to walk additional features include optic atrophy with poor or absent visual fixation, hypotonia, and spasticity
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

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