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.

Intellectual disability

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.


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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.
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.