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GENATLAS PHENOTYPE
last update : 06-06-2017
Symbol WVSS2
Location 7q36
Name Weaver-Smith syndrome 2
Corresponding gene EZH2
Main clinical features
  • generalized overgrowth, advanced bone age, marked macrocephaly, hypertelorism, and characteristic facial features; intellectual disability is common
  • retrognathia with a prominent chin crease (sometimes described as a stuck-on chin), increased prenatal growth, and a carpal bone age that is greatly advanced compared to metacarpal and phalangeal bone age, features distinguishing Weaver syndrome from Sotos syndrome
  • Genetic determination not applicable
    Function/system disorder osteo-articular
    mental retardation
    Type disease
    Remark(s)
  • possibility that dietary supplementation with methionine (or with other methyl donors such as betaine and choline) might improve the activity of certain EZH2 variants is attractive but awaits further investigation (PMID: 22177091))