6q terminal deletion syndrome

What is 6q terminal deletion syndrome?

6q terminal deletion syndrome is marked by a characteristic facial dysmorphism, short neck and psychomotor retardation, generally associated with a range of non-specific malformations.

Inheritance type

Not applicable, Unknown


  • Worldwide: <1 in 1,000 000

Age of Onset

  • Infancy
  • Neonatal
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