Disease: Infantile encephalopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1856408
Disease: Infantile encephalopathy
Infantile encephalopathy 		0.300 Biomarker phenotype GENOMICS_ENGLAND Using exome sequencing, we identified a homozygous mutation, Pro-304-His in the IDH3A gene, in a patient suffering from infantile encephalopathy with peripheral and autonomic nervous system involvement. 28058510 2017