ERBB4, erb-b2 receptor tyrosine kinase 4, 2066

N. diseases: 317; N. variants: 75
Disease: Early myoclonic encephalopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0270855
Disease: Early myoclonic encephalopathy
Early myoclonic encephalopathy 		0.020 GeneticVariation disease BEFREE A yet unresolved issue involves the relationship between early myoclonic encephalopathy (EME-ErbB4 mutations) versus the EIEE spectrum of disorders. 21967765 2012
CUI: C0270855
Disease: Early myoclonic encephalopathy
Early myoclonic encephalopathy 		0.020 GeneticVariation disease BEFREE Here, we present a patient with early myoclonic encephalopathy and profound psychomotor delay with a de novo reciprocal translocation t(2;6)(q34;p25.3), disrupting the ErbB4 gene. 18854870 2009