222300.G.1

Country

Lebanon

HPO Terms

Diabetes mellitus; Optic atrophy; Cataract; Sensorineural hearing impairment; Diabetes insipidus
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Family History

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_006005.3:c.1382C>G8
NM_006005.3:c.2524C>T8

Remarks

Family with 4 affected members
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