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2q31.1 microdeletion syndrome

Disease definition

2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.

ORPHA:251014

Classification level: Disorder
  • Synonym(s):
    • Del(2)(q31.1)
    • Monosomy 2q31.1
  • Prevalence: Unknown
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q93.5
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Professionals

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