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Recombinant 8 syndrome

Disease definition

Recombinant 8 (rec(8)) syndrome, also known as San Luis Valley syndrome, is a complex chromosomal disorder that is due to a parental pericentric inversion of chromosome 8 and is characterized by major congenital heart anomalies, urogenital malformations, moderate to severe intellectual deficiency and mild craniofacial dysmorphism.

ORPHA:96167

  • Synonym(s):
    • Duplication 8q/deletion 8p
    • Rec(8) syndrome
    • Rec8 syndrome
    • Recombinant chromosome 8 syndrome
    • San Luis Valley syndrome
  • Prevalence: Unknown
  • Inheritance: Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q99.8
  • OMIM: 179613
  • UMLS: -
  • MeSH: -
  • GARD: 9698
  • MedDRA: -

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