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300088.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Intellectual disability; Specific learning disability; Developmental regression; Bilateral tonic-clonic seizure
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Sex
Female
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001184880.2:c.577_578del
1
Developmental and Epileptic Encephalopathy 9
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References
Monies et al. 2017
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