615113.1

Country

United Arab Emirates

HPO Terms

Anophthalmia ; Iris coloboma; Retinal coloboma; Nystagmus
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000693.4:c.845G>C2

Remarks

Similarly affected sister

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
615113.2United Arab EmiratesMicrophthalmiaYesYes
615113.3United Arab EmiratesMicrophthalmiaYesYes
615113.4United Arab EmiratesMicrophthalmiaYesYes
615113.5United Arab EmiratesMicrophthalmiaNoYes
615113.6United Arab EmiratesMicrophthalmiaYesYes
615113.7United Arab EmiratesMicrophthalmiaNoYes
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