Database of Pathogenic Variants
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Disease Detail
Disease Name
3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency
OMIM:605911
Orphanet:35701
MedGen:C2751532
Associated Genes and Variants
HMGCS2
NM_005518.3:c.1016+1G>A
NM_005518.3:c.1162G>A