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GENATLAS PHENOTYPE

last update : 29/06/2006

Symbol	ESMR
Location	Xq28
Name	epilepsia, spasticity, mental retardation
Corresponding gene	MECP2
Main clinical features	hypotonia, early death < 25 years, profound mental retardation
Genetic determination	sex linked
Function/system disorder	neurology
Type	MCA/MR

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
duplication			in the region L1CAM-MECP2