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Blepharophimosis-intellectual disability syndrome, Ohdo type

Disease definition

Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.

ORPHA:2728

  • Synonym(s):
    • BMRS, Ohdo type
    • Blepharophimosis syndrome, Ohdo type
    • Ohdo syndrome
    • Ohdo-Madokoro-Sonoda syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: -
  • OMIM: 249620
  • UMLS: C0796094  C2931643
  • MeSH: -
  • GARD: -
  • MedDRA: -

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