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605534.G.1
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Subject Details
Country
Syria
HPO Terms
Intellectual disability, moderate; Seizure
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Family History
Yes
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001304504.2:c.694C>G
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Remarks
Authors classified this gene variant as a "moderately confident" novel candidate for neurodevelopmental disorders. Group of 5 family members
References
Reuter et al. 2017
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