Conditions / Genetic

Fanconi anemia complementation group I

info · Genetic

A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCI gene on chromosome 15q26.

Signs and symptoms

Decreased body weight
Astigmatism
Hearing impairment
Short stature
Small pituitary gland
Ventricular septal defect
Anemia
Cafe-au-lait spot
Bone marrow hypocellularity
Atresia of the external auditory canal

Also known as: FANCI