612095.1.2

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Country

Saudi Arabia

HPO Terms

Rod-cone dystrophy
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Sex

Male

Family History

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_006017.3:c.2130+2del1
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Remarks

Heterozygous, less severely affected son of 612095.1.1

References

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
612095.1.1Saudi ArabiaRod-cone dystrophyMaleYes
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.