MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 664; N. variants: 387
Disease: Neuronal Ceroid-Lipofuscinoses ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		0.010 GeneticVariation disease BEFREE Also we confirmed that NCL should be suspected in patients with Rett-like phenotype at onset and negative MECP2 mutation. 30144815 2018