Research Paper Volume 18 pp 234—260

A genome–phenome view of premature aging syndromes. (A) Each gene (left) is connected to its associated syndrome(s) or subtype(s) (middle), which are further linked to their corresponding clinical feature groups (right). For syndromes with subtypes, a consistent color scheme is applied to indicate grouping, with additional markers (letters or numbers) identifying individual subtypes (e.g., XP: xeroderma pigmentosum; XPA: xeroderma pigmentosum, complementation group A/SCKL: Seckel syndrome; SCKL1: Seckel syndrome 1). (B) Explanations of syndrome abbreviations (full syndrome names) and the numbers of subtypes within each syndrome. Details on the syndromes and subtypes are listed in Supplementary Table 1.