611040.G.1

Country

Lebanon

HPO Terms

Abnormal posterior eye segment morphology; Microphthalmia
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Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_031433.4:c.428-2A>G6

Remarks

Three unrelated affected families
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