4q21 microdeletion syndrome

What is 4q21 microdeletion syndrome?

The 4q21 microdeletion syndrome is a newly described syndrome associated with facial dysmorphism, progressive growth restriction, severe intellectual deficit and absent or severely delayed speech.

Other condition names

  • Del(4)(q21)
  • Monosomy 4q21

Inheritance type

Not applicable, Unknown


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Infancy
  • Neonatal
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