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11q22.2q22.3 microdeletion syndrome

Disease definition

11q22.2q22.3 microdeletion syndrome is a rare chromosomal anomaly characterized by mild intellectual disability, developmental delay, short stature, hypotonia and dysmorphic facial features. Anxiety and short attention span have also been reported.

ORPHA:444002

  • Synonym(s):
    • 11q22.2-q22.3 deletion syndrome
    • Del(11)(q22.2q22.3)
    • Monosomy 11q22.2-q22.3
    • Monosomy 11q22.2q22.3
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable 
  • Age of onset: Neonatal, Infancy
  • ICD-10: Q93.5
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

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