Conditions / Genetic

Fanconi anemia complementation group A

info · Genetic

A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCA gene on chromosome 16q24.

Signs and symptoms

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
Abnormal renal morphology
Leukemia

Also known as: FANCA