KAT6B and blepharophimosis - intellectual disability syndrome: In a more recent study of a de novo heterozygous variant within exon 16 of KAT6B that was detected in a 7-months-old Chinese female infant, the patient presented symptoms of short stature, global developmental delay, and clinical features consistent with blepharophimosis mental retardation syndromes (SBBYSS, also called Ohdo syndrome) [106].