Ohdo Syndrome, SBBYS Variant

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant condition caused by mutation(s) in the KAT6B gene encoding histone acetyltransferase KAT6B. It is characterized by intellectual disability, distinctive facial features. Other characteristics are variable, but often include absent knee caps in males.

**Synonyms:** - Blepharophimosis-Intellectual Disability Syndrome, SBBYS Type - Say-Barber-Biesecker-Young-Simpson Syndrome - YSS