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epilepsy female-restricted with mental retardation (convulsive disorder & mental retardation)
Genetics:
- associated with defects in PCDH19
- sex-limited, with the phenotype being restricted to females
Clinical manifestations:
- seizures with onset in infancy or early childhood
- cognitive impairment
- delayed development
- variable severity
- additional features include
a) autistic signs
b) psychosis
General
epilepsy
genetic disease of the central nervous system
Database Correlations
OMIM 300088
References
OMIM :accession 300088