Human genes for sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay [DOID:0080209]
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.
Synonyms: sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, and developmental delay sideroblastic anemia with B-cell immunodeficiency, periodic fevers, DOID:0080209, sideroblastic anemia with Bcell immunodeficiency periodic fevers and developmental delay, and developmental delay sideroblastic anemia with Bcell immunodeficiency periodic fevers ...