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GENATLAS PHENOTYPE

last update : 28-02-2024

Symbol	EGI7
Location	9q21.13
Name	epilepsy generalized idiopathic, 7
Corresponding gene	RORB
Main clinical features	generalized, predominantly absence and myoclonic, and occipital seizures, median age at seizure onset was 3.5 years all individuals with epilepsy were photosensitive, and any had cognitive abnormalities also eyelid myoclonia with absences, intellectual disability, and attention deficit hyperactivity disorder (ADHD) EEG showed generalized spike and wave and/or polyspike and wave
Genetic determination	not applicable
Function/system disorder	neurology
	mental retardation
Type	disease

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