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sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease sideroblastic anemia
External Links
- Disease Ontology
- DOID:0080209
- Mondo Disease Ontology
- OMIM
