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GENATLAS PHENOTYPE
last update : 7/09/2006
Symbol CFC2
Location 7q34
Name cardio-facio-cutaneous syndrome 2
Corresponding gene BRAF
Main clinical features
  • characterized by minor facial anomalies, cardiac defects, ectodermal anomalies and mental retardation
    • Genetic determination autosomal dominant
    Function/system disorder mental retardation
    dermatology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     in 78 p100 of CFC
    Remark(s)
    Genotype/Phenotype correlations mutations G534R in exon 13 and D638E in exon 16 associated to severe phenotype mimicking Costello syndrome