sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay

Term ID

DOID:0080209

Synonyms

• SIFD

Definition

A sideroblastic anemia characterized by onset of severe sideroblastic anemia in the neonatal period or infancy, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26. (2)

References

• MIM:616084

Ontology

Human Disease   ( DOID:0080209 )