Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 85358
Gene Symbol: SHANK3
SHANK3
0.010 GeneticVariation disease BEFREE The most common semiology is atypical absence seizure, which can be challenging to identify due to comorbid intellectual disability in individuals with SHANK3 mutations; however, no consistent seizure semiology, neuroimaging findings, or EEG findings were present in the majority of individuals with SHANK3 mutations. 27554343 2016