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References OMIM Gene GeneReviews HGMD HGNC
last update : 18-02-2012
Symbol GFS3
Location 19q13.32
Name gloomy face syndrome 3
Other name(s) 3M syndrome 3
Corresponding gene CCDC8
Other symbol(s) 3M3
Main clinical features
  • poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips, and may include skeletal anomalies and prominent heels
  • low birth weight dwarfism, narrow facies, grooved lower anterior thorax, and clinodactyly, no mental retardation
  • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    Type disease