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GABRA3

​Symptoms which have been reported by some individuals or publications associated with this gene (some individuals may experience more than one, or none of these symptoms):

 

  • Epilepsy

  • Intellectual disability/developmental delay

  • Dysmorphic features

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Publications:

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Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

 

Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals

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