1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0080209 | sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay | 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. |