231300.1.2

Country

Saudi Arabia

HPO Terms

Primary congenital glaucoma; Abnormal intraocular pressure; Visual field defect ;
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000104.3:c.182G>A2

Remarks

Sister of 231300.1.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
231300.1Saudi ArabiaPrimary congenital glaucoma; Abnormal intraocular pressure;UnknownYesBad prognosis
231300.1.1Saudi ArabiaPrimary congenital glaucoma; Abnormal intraocular pressure; Visual field defect ;MaleYesYes
231300.1.3Saudi Arabia;FemaleMother of 231300.1.1 and 231300.1.2
231300.1.4Saudi Arabia;MaleFather of 231300.1.1 and 231300.1.2
231300.1.5Saudi Arabia;MaleSibling of 231300.1.1 and 231300.1.2
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