Conditions / Genetic

Fanconi anemia complementation group U

info · Genetic

A Fanconi anemia that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36.

Signs and symptoms

  • Microcephaly
  • Ectopic kidney
  • Absent scaphoid
  • Aplasia of the 1st metacarpal
  • Unilateral facial palsy
  • Chromosome breakage
  • Absent thumb
  • Patent ductus arteriosus
  • Growth delay
  • Hypoplasia of the radius

Also known as: FANCU