Conditions / Genetic

Fanconi anemia complementation group N

info · Genetic

A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the PALB2 gene on chromosome 16p12.

Signs and symptoms

Epicanthus
Ectopic kidney
Cafe-au-lait spot
Hypertelorism
Postnatal growth retardation
Chromosomal breakage induced by crosslinking agents
Short neck
Aplastic anemia
Small for gestational age
Absent thumb

Also known as: FANCN