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Definition

A condition characterized by seizure with onset in infancy or early childhood, cognitive impairment, and delayed development of variable severity in some patients. Additional features include autistic signs and psychosis. The disorder is sex-limited, with the phenotype being restricted to females.

Acronym

DEE9

Synonyms

Convulsive disorder and mental retardation
EFMR
EIEE9
Epilepsy female-restricted with mental retardation
Epileptic encephalopathy, early infantile, 9

Keywords

Epilepsy
Mental retardation

 
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