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613587.1
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Subject Details
Country
Lebanon
HPO Terms
Microphthalmia; Slow decrease in visual acuity; Cataract
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Sex
Unknown
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_178857.6:c.5484G>C
1
Occult Macular Dystrophy
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Remarks
Parents from the same village
References
Jalkh et al. 2019
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