Blepharophimosis-intellectual disability syndrome, Ohdo type

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

Hearing impairment

A decreased magnitude of the sensory perception of sound.


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PMID (PMCID)
12868473
 MALE Infant, Newborn
Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition.
White SM, Ades LC, Amor D, Liebelt J, Bankier A, Baker E, Wilson M, Savarirayan R.
Clin Dysmorphol. 2003;12(2):109-13.
Ohdo syndrome (MIM 249620) is a multiple malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.