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612621.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Global developmental delay; Seizure
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Sex
Male
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_006772.3:c.490C>T
1
Intellectual Developmental Disorder, Autosomal Dominant 5
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References
Monies et al. 2017
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