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245570.1
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Subject Details
Country
Saudi Arabia
HPO Terms
Global developmental delay; Seizure
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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_001134407.3:c.905C>T
1
Epilepsy, Focal, with Speech Disorder and with or without Impaired Intellectual Development
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References
Monies et al. 2017
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