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GENATLAS PHENOTYPE

last update : 29-05-2024

Symbol	DEE101
Location	9q34.3
Name	developmental and epileptic encephalopathy 101
Corresponding gene	GRIN1
Main clinical features	early infantile epileptic encephalopathy and severe global developmental delay; severe intellectual disability with absent speech, muscular hypotonia, hyperkinetic movement disorder, oculogyric crises, cortical blindness, generalized cerebral atrophy also intractable epilepsy and infantile death in any cases
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	neurology
Type	disease

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