Conditions / Genetic

Fanconi anemia complementation group Q

info · Genetic

A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the ERCC4 gene on chromosome 16p13.

Signs and symptoms

Short stature
Chromosome breakage
Bone marrow hypocellularity
Growth delay
Microcephaly
Esophageal atresia
Primum atrial septal defect
Absent thumb
Biliary atresia
Low-set ears

Also known as: FANCQ