X-linked mental retardation with epilepsy (MRXE)

Genetics

• X-linked recessive syndrome
• associated with defects in ATP6AP2 (renin receptor) gene
  • silent mutation, exon skipping occurs

Clinical manifestations

• mild to moderate mental retardation
• epilepsy
• delays in motor milestones & speech acquisition in infancy

More general terms

• X-linked mental retardation syndromic

Additional terms

• renin receptor