222300.G.2

Country

Lebanon

HPO Terms

Diabetes mellitus; Optic atrophy; Sensorineural hearing impairment; Seizure
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Family History

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_006005.3:c.2119G>A4
NM_006005.3:c.2649del4

Remarks

Family with 2 affected members
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