MECP2, methyl-CpG binding protein 2, 4204

N. diseases: 90; N. variants: 362
Disease: Myoclonus, Nocturnal ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751352
Disease: Myoclonus, Nocturnal
Myoclonus, Nocturnal 		0.300 Biomarker phenotype CTD_human A novel MECP2 mutation in a boy with neonatal encephalopathy and facial dysmorphism. 19559301 2009