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GENATLAS PHENOTYPE

last update : 04-06-2019

Symbol	EIEE92
Location	3p21.31
Name	epileptic encephalopathy, early infantile, 92
Other name(s)	neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
Corresponding gene	PTPN23
Other symbol(s)	NEDBASS
Main clinical features	severe developmental delay, epilepsy, cortical blindness, hypomyelination and brain atrophy on MRI early onset drug-resistant epilepsy, severe and global developmental delay, microcephaly, and sometimes premature death
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

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