sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (DOID:0080209)
Alliance: disease page
Synonyms: SIFD
Alt IDs: OMIM:616084
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.