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142461.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Abnormality of the eye; Wide mouth; Abnormal facial expression
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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_005529.7:c.11208-7G>A
2
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References
Monies et al. 2017
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