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2p13.2 microdeletion syndrome

Disease definition

A rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.

ORPHA:363680

Classification level: Disorder
  • Synonym(s):
    • Del(2)(p13.2)
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q93.5
  • OMIM: -
  • UMLS: C4749460
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Italiano (2018) Español (2018) Français (2018) Nederlands (2018) Polski ()

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.