613843.4.1

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Country

Saudi Arabia

HPO Terms

Undetectable electroretinogram; Attenuation of retinal blood vessels; Optic disc pallor; Hyperopic astigmatism; Pendular nystagmus
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_003322.6:c.901C>T2
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Remarks

Patient 8 from family KKESH-203 in the publication

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
613843.4.2Saudi ArabiaUndetectable electroretinogram; Attenuation of retinal blood vessels; Optic disc pallor; Hyperopic astigmatism; Pendular nystagmusFemaleYesYesSister of 613843.4.1 Patient 8 from family KKESH-203 in the publication
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.