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GENATLAS PHENOTYPE

last update : 05-07-2016

Symbol	EIEE28
Location	16q23.1
Name	epileptic encephalopathy, early infantile, 28
Corresponding gene	WWOX
Main clinical features	microcephaly, poor growth, and lack of psychomotor development intractable seizure , myoclonic movements and hyperreflexia as well as optic atrophy with retinal dysfunction brain MRI showed supratentorial atrophy with simplified gyral pattern, hypoplasia of the hippocampus and the temporal lobe, and thin corpus callosum
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

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