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GENATLAS PHENOTYPE
last update : 03-07-2015
Symbol FANCT
Location 1q32.1
Name Fanconi anemia of complementation group T
Corresponding gene UBE2T
Main clinical features
  • thumb abnormalities, hypoplastic thumb or bilateral thumb polydactyly; also short stature and abnormalities of external genitalia, facial palsy and dysplasia of the middle ear bone with hearing loss associated to thrombocytopenia and anemia as well as increased rate of chromosomal breakage, and progressive bone marrow failure (BMF)
  • Genetic determination autosomal recessive
    Function/system disorder defense and immunity
    ear
    hematology
    osteo-articular
    Type disease
    Remark(s)