Figure 1.
Characteristic features of the Mendelian disorders of the epigenetic machinery. The most common phenotypic feature is intellectual disability (yellow). Other features include growth retardation (red), overgrowth (green), immune dysfunction (purple), and various limb abnormalities (orange). The components of the epigenetic machinery (horizontal labels) and genetic syndromes (vertical labels) are divided into four categories (writer, eraser, reader, or remodeler). The majority of these genes demonstrate dosage sensitivity (filled circle).
