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604229.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Microphthalmia; Ocular anterior segment dysgenesis
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Family History
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001368894.2:c.664C>T
1
Anterior Segment Dysgenesis 5
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Remarks
de novo mutation
References
Patel et al. 2018
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