MEF2C, myocyte enhancer factor 2C, 4208

N. diseases: 206; N. variants: 53
Disease: Congenital anomaly of brain ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		0.010 Biomarker group BEFREE We describe two unrelated patients with overlapping de novo interstitial deletions of 4.1 and 1.9 Mb, including MEF2C in 5q14.3, one of whom had a complex brain malformation which could be best described as microcephaly with simplified gyral pattern (MSG). 23824879 2013