604219.1.2

Country

Saudi Arabia

HPO Terms

Developmental cataract; Microcornea
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000394.4:c.160C>T2

Remarks

Brother of 604219.1.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
604219.1.1Saudi ArabiaDevelopmental cataract; MicrocorneaFemaleYesYesMaternal first cousin had a similar phenotype
604219.1.3Saudi ArabiaDevelopmental cataract; MicrocorneaFemaleYesYesSister of 604219.1.1
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