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Simpson-Golabi-Behmel syndrome

Disease definition

Simpson-Golabi-Behmel syndrome (SGBS, also referred to as SGBS type 1) is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.

ORPHA:373

  • Synonym(s):
    • DGSX
    • Golabi-Rosen syndrome
    • SDYS
    • SGBS
    • SGBS1
    • Simpson dysmorphia syndrome
    • Simpson-Golabi-Behmel syndrome type 1
    • X-linked dysplasia gigantism syndrome
  • Prevalence: Unknown
  • Inheritance: X-linked recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.3
  • OMIM: 312870
  • UMLS: C0796154
  • MeSH: C537340
  • GARD: 7649
  • MedDRA: -

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