Fanconi anemia complementation group J

A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRIP1 gene on chromosome 17q22.

Signs and symptoms

• Multiple cafe-au-lait spots
• Chromosomal breakage induced by crosslinking agents
• Global developmental delay
• Postnatal growth retardation
• Bone marrow hypocellularity
• Microphthalmia
• Intrauterine growth retardation
• Short thumb

Also known as: FANCJ