613561.7

Country

Lebanon

HPO Terms

Sideroblastic anemia; Severe; Myopathy; Severe; Lactic acidosis; Sinus tachycardia; Neutropenia; Thrombocytopenia; Death in early adulthood;
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Sex

Female

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001040436.3:c.156C>G2
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