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217080.3
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Subject Details
Country
United Arab Emirates
HPO Terms
Photophobia; Visual impairment; Rod-cone dystrophy; Amelogenesis imperfecta
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Sex
Male
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_020184.3:c.509T>C
2
Jalili Syndrome
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References
Khan. 2020
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