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Proximal 16p11.2 microdeletion syndrome

Disease definition

The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

ORPHA:261197

  • Synonym(s):
    • Proximal del(16)(p11.2)
    • Proximal monosomy 16p11.2
  • Prevalence: 1-5 / 10 000
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Childhood
  • ICD-10: Q93.5
  • OMIM: 611913
  • UMLS: -
  • MeSH: -
  • GARD: 10740
  • MedDRA: -

Detailed information

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Additional information

Further information on this disease

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