Distal monosomy 12p

What is Distal monosomy 12p?

A rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly.

Other condition names

  • 12p13.33 microdeletion syndrome
  • Del(12)(p13.33)
  • Distal deletion 12p


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Infancy
  • Neonatal
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