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Results 1 - 1 of 1 for Congenital sideroblastic "anemia-B-cell" "immunodeficiency-periodic" "fever-developmental" delay syndrome
  1. TRNT1 deficiency 
    ... related immunodeficiency TRNT1-related immunodeficiency+ Genetic Testing Registry: Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome Genetic Testing Registry: Retinitis pigmentosa and erythrocytic microcytosis ...
    https://medlineplus.gov/genetics/condition/trnt1-deficiency - Genetics