606844.1

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Country

Lebanon

HPO Terms

Type I diabetes mellitus ; Optic atrophy ; Bilateral sensorineural hearing impairment; Seizure
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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_015120.4:c.11876-3T>G2
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References

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