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]. The gene discussed is KAT6B; the disease is Global developmental delay.