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9q31.1q31.3 microdeletion syndrome

Disease definition

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.


Classification level: Disorder
  • Synonym(s):
    • Del(9)(q31.1q31.3)
    • Monosomy 9q31.1q31.3
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Neonatal
  • ICD-10: Q93.5
  • OMIM: -
  • UMLS: C4750910
  • MeSH: -
  • GARD: -
  • MedDRA: -
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