Conditions / Genetic

Fanconi anemia complementation group L

info · Genetic

A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHF9 gene on chromosome 2p16.

Signs and symptoms

  • Delayed CNS myelination
  • Cafe-au-lait spot
  • Chromosome breakage
  • Micropenis
  • Feeding difficulties
  • Chromosomal breakage induced by crosslinking agents
  • Global developmental delay
  • Absent thumb
  • Growth delay
  • Attention deficit hyperactivity disorder

Also known as: FANCL