Database of Pathogenic Variants
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Disease Detail
Disease Name
3-hydroxy-3-methylglutaryl-CoA lyase deficiency
OMIM:246450
Orphanet:20
MedGen:C0268601
Associated Genes and Variants
HMGCL
NM_000191.2:c.242G>A
NM_000191.2:c.31C>T