An inborn error of cholesterol biosynthesis.
D002675:Child, Preschool; D002784:Cholesterol / Q000096:biosynthesis*; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000175:diagnosis*; D008297:Male; D010770:Phosphotransferases / Q000172:deficiency*; D017853:Phosphotransferases (Alcohol Group Acceptor)
D002784:Cholesterol; D010770:Phosphotransferases; D017853:Phosphotransferases (Alcohol Group Acceptor); C021796:mevalonate kinase