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GENATLAS PHENOTYPE
last update : 22-12-2011
Symbol GFS
Location 6p21.1
Name gloomy face syndrome
Other name(s)
  • 3M syndrome 1
  • three M syndrome
  • Le Merrer syndrome
  • dolichospondylic dysplasia
    • Corresponding gene CUL7
    Other symbol(s) 3M1
    Main clinical features
  • low birth weight dwarfism, narrow facies, grooved lower anterior thorax, and clinodactyly, no mental retardation
    • Genetic determination autosomal recessive
    Related entries including the short stature syndrome in Yakuts
    Function/system disorder
    Type malformation
    Gene product
    Name cullin 7
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    frameshift   truncated protein impairing the capacity of CUL7 to to interact with ROC1
    Remark(s)
    Genotype/Phenotype correlations 4582insT mutation associated to short stature syndrome in Yakuts