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GENATLAS PHENOTYPE
last update : 21-03-2017
Symbol DNMT3OGS
Location 2p23.3
Name DNMT3A overgrowth syndrome
Other name(s) Tatton-Brown-Rahman syndrome
Corresponding gene DNMT3A
Other symbol(s) TBRS
Main clinical features
  • tall stature, a distinctive facial appearance, and intellectual disability
  • large head circumference (mean of +2.5 SD), and a facial gestalt manifest as round face, heavy horizontal eyebrows, and narrow palpebral fissures; mental retardation described as moderate or mild
  • Genetic determination other
    Function/system disorder mental retardation
    Type disease
    Remark(s)