Conditions / Genetic
Fanconi anemia complementation group F
info ยท Genetic
A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCF gene on chromosome 11p15.
Signs and symptoms
- Failure to thrive
- Anemia
- Cafe-au-lait spot
- Hyperpigmentation of the skin
- Bone marrow hypocellularity
- Decreased total leukocyte count
- Chromosomal breakage induced by crosslinking agents
- Pneumonia
- Thrombocytopenia
- Short stature
Also known as: FANCF