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Blepharophimosis - intellectual disability syndrome, Ohdo type
rareOhdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.
- Identifiers
- MONDO:0009583 OMIM:249620Orphanet:2728
- Part of
- Ohdo syndrome and variants
- Also known as
- blepharophimosis syndrome, Ohdo type · BMRS, Ohdo type · mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth · Ohdo syndrome · Ohdo-Madokoro-Sonoda syndrome
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