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617781.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Visual impairment; Nystagmus; Happy demeanor; Cone-shaped epiphyses of the phalanges of the hand
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Sex
Male
Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_014714.4:c.1990G>A
2
Retinitis Pigmentosa 80
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References
Bifari et al. 2016
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