Fanconi anemia complementation group D1

A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13.

Signs and symptoms

• Intrauterine growth retardation
• Failure to thrive
• Acute myeloid leukemia
• Cafe-au-lait spot
• Short stature
• Chromosomal breakage induced by crosslinking agents
• Bone marrow hypocellularity
• Microcephaly
• Anal atresia
• T-cell acute lymphoblastic leukemias

Also known as: FAD1; FANCD1