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GENATLAS PHENOTYPE
last update : 08/10/07
Symbol FGS6
Location Xq24-q26
Name FG syndrome 6
Corresponding gene UPF3B
Main clinical features
  • mental retardation, facial anomalies, prominent forehead, hypotonia, failure to thrive, constipation, and anal anomalies
    • Genetic determination sex linked
    Function/system disorder mental retardation
    digestive tract/gastrointestinal
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   truncated protein leading to a translational frameshift and subsequent protein truncation