Fanconi anemia complementation group V

A Fanconi anemia that has_material_basis_in homozygous mutation in the MAD2L2 gene on chromosome 1p36.

Signs and symptoms

• Microcephaly
• Short stature
• Anemia
• Chromosomal breakage induced by crosslinking agents
• Elevated circulating alpha-fetoprotein concentration
• Bone marrow hypocellularity
• Thrombocytopenia
• Decreased total neutrophil count

Also known as: FANCV