Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype BEFREE Mutations of the MECP2 gene should be considered early in males with hypotonia, developmental delay, profound intellectual impairment, and seizures, associated with a mother with psychosocial, cognitive, and gastrointestinal impairments. 28089766 2017
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype BEFREE Electroencephalographic (EEG) and seizure types occurring in MECP2 DS have been poorly investigated. 30642617 2019
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.500 GeneticVariation phenotype BEFREE Here, we report the first case of a male patient presenting with an early seizure type of Rett-like phenotypes with a missense variant of MECP2. 30569584 2019