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GENATLAS PHENOTYPE
last update : 04-11-2011
Symbol POF3
Location 3q22.3
Name premature ovarian failure, 3
Corresponding gene FOXL2
Main clinical features
  • autosomal dominant female-limited defect
  • associated with blepharophimosis-epicathus inversus-ptosis, type2 (BPES2) or rarely isolated
    • Genetic determination autosomal dominant
    Function/system disorder endocrinology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     FOXL2
    Remark(s)