Conditions / Genetic

Fanconi anemia complementation group B

info · Genetic

A Fanconi anemia that has_material_basis_in mutation in the FANCB gene on chromosome Xp22.

Signs and symptoms

Ventriculomegaly
Hypogonadism
Abnormality of chromosome stability
Intrauterine growth retardation
Growth delay
Bilateral radial aplasia
Absent thumb
Hypergonadotropic hypogonadism
Abnormal vertebral morphology
Aplastic anemia

Also known as: FACB; FANCB; Fanconi pancytopenia type 2