249270.2

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Country

Lebanon

HPO Terms

Diabetes Mellitus; Thiamine-responsive megaloblastic anemia; Bilateral sensorineural hearing impairment
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_006996.3:c.725delC2
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Remarks

Father and brother reported to have IDDM

References

© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.