LIPT2, lipoyl(octanoyl) transferase 2, 387787

N. diseases: 20; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0235820
Disease: Neonatal encephalopathy
Neonatal encephalopathy 		0.010 GeneticVariation disease BEFREE We report on the identification of biallelic LIPT2 mutations in three affected individuals from two families with severe neonatal encephalopathy. 28757203 2017