Conditions / Genetic
Fanconi anemia complementation group O
info · Genetic
A Fanconi anemia that has_material_basis_in homozygous mutation in the RAD51C gene on chromosome 17q21-q24.
Signs and symptoms
- Stage 5 chronic kidney disease
- Anal atresia
- Short stature
- Chromosome breakage
- Rectal atresia
- Abnormal heart morphology
- Cryptorchidism
- Small thenar eminence
- External genital hypoplasia
- Renal cyst
Also known as: FANCO