MEF2C, myocyte enhancer factor 2C, 4208

N. diseases: 206; N. variants: 53
Disease: Mental impairment ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.030 AlteredExpression disease BEFREE Pathogenicity of MEF2C overexpression is still unclear as only four patients with mild intellectual deficiency carrying 5q14.3 microduplications containing MEF2C are described in the literature. 31375103 2019
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.030 GeneticVariation disease BEFREE We report heterozygous MEF2C loss-of-function as a possible cause of question mark ear associated with intellectual deficiency. 28456137 2018
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.030 GeneticVariation disease BEFREE By combining the clinical data of all patients with MEF2C point mutations published so far with the phenotype of our patient, a targeted search for MEF2C mutations could be applied to patients with a severe intellectual deficiency associated with absence of language and hypotonia, strabismus, and epilepsy (started after 6 months, often well controlled by valproate). 23001426 2013