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GENATLAS PHENOTYPE
last update : 6/07/2006
Symbol HFG
Location 7p15.3
Name hand-foot-genital syndrome
Other name(s) hand-foot-uterus syndrome
Corresponding gene HOXA13
Other symbol(s) HFGS
Main clinical features
  • characterized by hypospadias in males, genital tract duplication in females, hypoplastic first digits, overlapping Guttmacher syndrome
    • Genetic determination autosomal dominant
    Function/system disorder congenital malformation
    Type disease
    Gene product
    Name homeobox A12, stable expansion of 11 to 18 residues poly alanine tract
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   unknown disruption of DNA binding or of protein stability