Conditions / Genetic

Fanconi anemia complementation group G

info · Genetic

A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the XRCC9 gene on chromosome 9p13.

Signs and symptoms

Growth delay
Microcephaly
Leukemia
Abnormality of chromosome stability
Anemia
Abnormal thumb morphology
Multiple cafe-au-lait spots
Thrombocytopenia
Myelodysplasia
Decreased total neutrophil count

Also known as: FANCG