Fanconi anemia complementation group P

info · Genetic

A Fanconi anemia characterized by increased chromosomal instability, progressive bone marrow failure and in some cases skeletal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the SLX4 gene on chromosome 16p13.3.

Signs and symptoms

Chromosomal breakage induced by crosslinking agents
Anemia
Growth delay
Pancytopenia
Short stature
Microcephaly
Hearing impairment
Horseshoe kidney
Short palpebral fissure
Cafe-au-lait spot

Also known as: FANCP