613561.5

Country

Lebanon

HPO Terms

Lactic acidosis; Sideroblastic Anemia; Scoliosis
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Sex

Female

Family History

Yes

Parental Consanguinity

No

Subject Variants

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

Remarks

Possibly affected deceased sister
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