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blepharophimosis – intellectual disability syndrome, Ohdo type

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

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

Synonyms

  • BMRS, Ohdo type
  • Ohdo blepharophimosis syndrome
  • Ohdo syndrome
  • Ohdo-Madokoro-Sonoda syndrome
  • blepharophimosis syndrome, Ohdo type
  • intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth
  • mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth
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