Blepharophimosis - intellectual disability syndrome, Ohdo type
Blepharophimosis - intellectual disability syndrome, Ohdo type
Definition
Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.
Also known as blepharophimosis syndrome, Ohdo type, BMRS, Ohdo type, Ohdo syndrome, Ohdo-Madokoro-Sonoda syndrome — per MONDO