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
  • autistic signs
  • psychosis

More general terms

• epilepsy
• genetic disease of the central nervous system

Database

• OMIM: https://mirror.omim.org/entry/300088