HBRF

613835.6.1

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Country

Syria

HPO Terms

Retinal dystrophy; Rod-cone dystrophy
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name Allele Count Allele Frequency Associated Disease Associated Gene
NM_201253.3:c.2555T>C 2
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References

Related Subjects

Subject Id Country HPO Terms Sex Family History Parental Consanguinity Remarks
613835.6.2 Syria Macular atrophy; Foveal atrophy Male Yes Yes Sibling of 613835.6.1
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.