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Duplication/inversion 15q11

Disease definition

The duplication/inversion 15q11 or isodicentric 15 chromosome (inv dup(15) or idic(15)) syndrome is a chromosomal disorder with distinctive clinical findings characterized by early central hypotonia, developmental delay and intellectual deficit, epilepsy, and autistic behavior.

ORPHA:3306

  • Synonym(s):
    • Invdup(15)
    • Isodicentric 15 chromosome
    • Non-distal tetrasomy 15q
    • Non-telomeric tetrasomy 15q
    • idic(15)
  • Prevalence: -
  • Inheritance: Not applicable or Unknown 
  • Age of onset: Neonatal
  • ICD-10: Q99.8
  • OMIM: -
  • UMLS: C3711376
  • MeSH: -
  • GARD: 5153
  • MedDRA: -

Detailed information

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