Many of these disorders also present with a recognizable facial gestalt and include some of the classic dysmorphic syndromes, such as Kabuki syndrome (e.g., KMT2D; MIM: 147920 and MIM: 602113) or Rubinstein-Taybi syndrome (e.g., CREBBP; MIM: 180849 and MIM: 600140). The gene discussed is CREBBP; the disease is Rubinstein-Taybi syndrome.