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GENATLAS PHENOTYPE
last update : 30-08-2010
Symbol CFC4
Location 19p13.3
Name cardio-facio-cutaneous syndrome 4
Corresponding gene MAP2K2
Main clinical features
  • characterized by minor facial anomalies, cardiac defects, ectodermal anomalies and developmental delay, mental retardation
  • sparse curly hair, with sparse eyebrows, and eyelashes
    • Genetic determination autosomal dominant
    Function/system disorder dermatology
    cardiovascular
    mental retardation
    mental retardation
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     10 p100 of CFC,with exons 2 and 3 being mutational hotspots
    Remark(s)