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GENATLAS PHENOTYPE

last update : 29-01-2019

Symbol	IDHE
Location	5q31.1
Name	intellectual disability, hypotonia, epilepsy
Corresponding gene	PPP2CA
Main clinical features	mild to severe mental retardation, behavioral problems, variable types of epilepsy, hypotonia, abnormal head circumference, and brain abnormalities such as corpus callosum abnormalities and ventriculomegaly mild dysmorphic features, but a recognizable facial gestalt could not be observed
Genetic determination	not applicable
Function/system disorder	mental retardation
	neurology
Type	disease

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