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610092.1
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Subject Details
Country
United Arab Emirates
HPO Terms
Bilateral microphthalmos; Developmental cataract; Iris coloboma
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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_182894.3:c.599G>C
2
Microphthalmia, Isolated, with Coloboma 3
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References
Ferda Percin et al. 2000
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