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616346.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Seizure; Global developmental delay
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Sex
Male
Family History
No
Parental Consanguinity
No
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_004408.4:c.127G>A
1
Developmental and Epileptic Encephalopathy 31A
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References
Monies et al. 2017
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