Distal 7q11.23 microdeletion syndrome

What is Distal 7q11.23 microdeletion syndrome?

Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression).

Other condition names

  • Distal del(7)(q11.23)
  • Distal monosomy 7q11.23

Inheritance type

Autosomal dominant, Not applicable


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Infancy
  • Neonatal
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