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212550.2.1
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Subject Details
Country
Syria
HPO Terms
Microphthalmia; Corneal scarring; Retinal detachment
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Sex
Male
Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_007374.3:c.532_536del
2
Optic Disc Anomalies with Retinal and/or Macular Dystrophy
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References
Aldahmesh et al. 2013;
Patel et al. 2018
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