Conditions / Genetic

Fanconi anemia complementation group E

info · Genetic

A Fanconi anemia that has_material_basis_in homozygous mutation in the FANCE gene on chromosome 6p22-p21.

Signs and symptoms

  • Global developmental delay
  • Deficient excision of UV-induced pyrimidine dimers in DNA
  • Prolonged G2 phase of cell cycle
  • Hearing impairment
  • Strabismus
  • Short stature
  • Ectopic kidney
  • Horseshoe kidney
  • Duplicated collecting system
  • Leukemia

Also known as: FACE; FANCE