Conditions / Genetic
congenital nonspherocytic hemolytic anemia 4
info · Genetic
A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHI gene (GPI) on chromosome 19q13.
Signs and symptoms
- Ataxia
- Cholelithiasis
- Sensory ataxia
- Cholecystitis
- Impaired neutrophil bactericidal activity
- Pigment gallstones
- Muscle weakness
- Jaundice
- Splenomegaly
- Intellectual disability