Conditions / Genetic
Fanconi anemia complementation group T
info · Genetic
A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the UBE2T gene on chromosome 1q32.
Signs and symptoms
- Chromosomal breakage induced by crosslinking agents
- Anemia
- Thrombocytopenia
- Facial palsy
- Hearing impairment
- Short stature
- Acute myeloid leukemia
- Duplication of thumb phalanx
- Bone marrow hypocellularity
- Short thumb
Also known as: FANCT