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9q31.1q31.3 microdeletion syndrome

What is 9q31.1q31.3 microdeletion syndrome?

9q31.1q31.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, short stature with high body mass index, short neck with cervical gibbus and dysmorphic facial features. A metabolic syndrome, including type 2 diabetes, hypercholesterolemia and hypertension has also been reported.

Other condition names

  • Del(9)(q31.1q31.3)
  • Monosomy 9q31.1q31.3

Inheritance type

Unknown

Prevalence

  • Worldwide: <1 in 1,000 000

Age of Onset

  • Neonatal
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.