Conditions / Genetic
Fanconi anemia complementation group W
info · Genetic
A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the RFWD3 gene on chromosome 16q23.
Signs and symptoms
- Microcephaly
- Megakaryocyte dysplasia
- Chiari malformation
- Decreased response to growth hormone stimulation test
- Polysplenia
- Absent thumb
- Radial ray deficiency
- Growth delay
- Myelodysplasia
- Hypoplasia of the radius