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Monosomy 22q13

Disease definition

Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.

ORPHA:48652

  • Synonym(s):
    • 22q13 deletion
    • Phelan-McDermid syndrome
  • Prevalence: Unknown
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q93.5
  • OMIM: 606232
  • UMLS: C1853490
  • MeSH: -
  • GARD: 10130
  • MedDRA: -

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