Disease

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

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.

Synonyms

SIFD

Cross References

MIM:616084

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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