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 abnormality

An abnormality of the sensory perception of sound.


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PMID (PMCID)
28710305
 MALE
Autism spectrum disorder in Say-Barber-Biesecker-Young-Simpson syndrome.
Merritt J, Hart JC, LeGrow TL.
BMJ Case Rep. 2017;2017:.
Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS), also known as Ohdo syndrome SBBYS type, is a rare genetic disorder characterised by dysmorphic facial features and severe intellectual disability, as well as cardiac, dental and hearing abnormalities.