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613835.6.1
Home
Subject Details
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
Leber Congenital Amaurosis 8
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References
Hasan et al. 2016
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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