Fanconi anemia complementation group R

A Fanconi anemia that has_material_basis_in heterozygous mutation in the RAD51 gene on chromosome 15q15.

Signs and symptoms

• Microcephaly
• Nevus
• Anal atresia
• Scoliosis
• Tethered cord
• Delayed ability to walk
• Chromosomal breakage induced by crosslinking agents
• Chiari type I malformation
• Hydrocephalus
• Microphthalmia

Also known as: FANCR