Condition: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50
rs763410987
in
CAD
gene and
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 50
PMID 28087732
2017 Novel GNB1 mutations disrupt assembly and function of G protein heterotrimers and cause global developmental delay in humans.
PMID 25678555
2015 Biallelic mutations in CAD, impair de novo pyrimidine biosynthesis and decrease glycosylation precursors.