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GENATLAS PHENOTYPE

last update : 04-05-2015

Symbol	EIEE2
Location	Xp22.13
Name	epileptic encephalopathy, early infantile, 2
Other name(s)	Rett syndrome, atypical infantile spasm syndrome, X-linked
Corresponding gene	CDKL5
Other symbol(s)	RTTA, ISSX2
Main clinical features	Rett-like phenotype associated with early-onset seizures
Genetic determination	sex linked
Related entries	ISSX
Function/system disorder
Type	disease

Remark(s)

allelic disorder to ISSX , with many clinical overlaps