MLYCD, malonyl-CoA decarboxylase, 23417

N. diseases: 79; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0158986
Disease: Neonatal hypoglycemia
Neonatal hypoglycemia
0.010 Biomarker disease BEFREE We report long term follow up of a patient with MLYCD deficiency showing signs of neonatal hypoglycemia, mental retardation, developmental delay and rheumatoid arthritis. 24613099 2015