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204000.6
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Subject Details
Country
Saudi Arabia
HPO Terms
Visual impairment; Nystagmus; Attenuation of retinal blood vessels; Undetectable electroretinogram; Deeply set eye; Midface retrusion; Global developmental delay
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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_001023570.4:c.1130-1G>C
2
Leber Congenital Amaurosis 1
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Remarks
References
Wang et al. 2011
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