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603272.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Intellectual disability; Microphthalmia; Coloboma; Microcornea
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Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_006314.3:c.926+1G>A
2
CNKSR1 Associated Intellectual Disability
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References
Patel et al. 2018
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