2p13.2 microdeletion syndrome

What is 2p13.2 microdeletion syndrome?

A rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.

Other condition names

  • Del(2)(p13.2)

Inheritance type

Autosomal dominant


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Infancy
  • Neonatal
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